Human Genomics Lab
 
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A laboratory of the Pennington Biomedical Research Center, a campus of the Louisiana State University System.

The content of this site is developed by and is the sole responsibility of the the director of the Human Genomics Laboratory. Any scientific opinions or discussions posted do not necessarily reflect the opinion of other Center faculty or staff or the Center's executive management.

Research


The Human Genomics Laboratory investigates the genetic and molecular basis of the response to a physically active lifestyle with an emphasis on cardiorespiratory endurance, cardiovascular disease, and type 2 diabetes risk factors, as well as genetic and molecular background of obesity and abdominal obesity and their co-morbidities. It relies primarily on the resources of the HERITAGE Family Study, the Québec Family Study, and the HYPGENE / Dallas Aerobic Center Longitudinal Study. In addition, the laboratory is closely involved in the GET-READI study, a dietary intervention study in African-American families investigating the genetic and non-genetic determinants of cardiovascular disease risk factor responses to a heart-healthy diet.

HERITAGE Family Study

Our main project focusing on genotype-physical activity interactions is the HERITAGE Family Study. The aim of the HERITAGE Family Study is to document the cardiovascular and metabolic responses to endurance exercise training, and the contribution of genetic factors to the concomitant response of cardiovascular disease (CVD), and type 2 diabetes (T2DM) risk factors.

Phase 1 of HERITAGE (1992 to 1997) was devoted to the recruitment of White and Black families, and extensive testing of all individuals before and after a 20-week laboratory-controlled and fully standardized exercise program. Five centers were involved: University of Minnesota (PI: A. Leon), University of Arizona and then University of Indiana (PI: J. Skinner), University of Texas at Austin (PI: J. Wilmore), Washington University (PI: D.C. Rao), and Laval University in Quebec City (PI: C. Bouchard).  Washington University served as the Data Coordinating Center (PI: Rao). C. Bouchard, leader of the entire project, served as the chair of the HERITAGE Steering Committee and as the coordinator of the core facilities (lipid core, steroid core, hormone core, cell lines core) located at Laval University in Quebec City. In Phase 2 (1997 to 2001), the HERITAGE database was used extensively to document the range of human variation in the response to regular exercise, level of familial aggregation and heritability, and differences in response by age, gender, and race. A panel of pre-selected markers in candidate genes was used to investigate possible associations with the baseline and response levels for a variety of phenotypes. A first (sparse) genome-wide scan with a panel of about 300 markers was undertaken for several baseline and response phenotypes. Phase 3 (2001-2005) dealt with the genetic epidemiology of training-induced changes in major cardiovascular disease (CVD) risk factors, with an emphasis on possible Black and White differences. Targeted CVD and Type 2 diabetes risk factors and their responses to regular exercise were investigated, with an emphasis on Black and White differences. Microarray studies of vastus lateralis skeletal muscle mRNA obtained in a subset of 78 HERITAGE participants have been undertaken with the goal of comparing the profile of those who did not improve and those who almost doubled their insulin sensitivity in response to regular exercise. More refined genome-wide linkage scans were completed by the end of Phase 3 with a denser panel of markers (650 microsatellites) and more powerful analytical strategies. Phase 4 of the study began in 2006 and will continue for five years.

148 papers have been published or are in press based on the data of the HERITAGE Family Study and are listed on the HERITAGE website.

ACLS/Cooper Institute collaboration

In collaboration with the Cooper Institute in Dallas, TX, the Human Genomics Laboratory has established a DNA bank of all consenting participants of the Aerobics Center Longitudinal Study (ACLS) cohort. As of April 2006, we have banked ~ 28,000 samples from ~18,000 subjects. The overall goal of the collaboration is to investigate genotype-by-fitness and genotype-by-obesity interaction on the risk of chronic diseases utilizing the longitudinal design and multiple clinic visits of the ACLS cohort. The first project based on the ACLS resource is targeting hypertension (the HYPGENE Study), and it is funded by the NHLBI (2004-2007).

 

GET-READI: Gene-diet interactions in African-American Families

Research activities related to gene-diet interactions in humans are mainly based on the GET-READI (Gene-Environment Trial on REsponsiveness in African-Americans on Dietary Intervention) study. The purpose of the GET-READI is to study the role of the genotype in cardiovascular disease risk factor responses to a heart-healthy diet in African-Americans. This is a three-year study and the goal was to recruit nuclear families of Black ancestry with both biological parents and a minimum of two adult biological offspring. Offspring are between 17 to 65 years of age and at least one offspring has a low-density lipoprotein cholesterol (LDL-C) above 100 mg/dL. Only the children of the families underwent dietary intervention. Parents of the participants were asked to provide a DNA sample for genetic analysis to improve the accuracy of the identical-by-descent allele sharing estimates among the offspring. Dietary intervention consisted of two diets: one was similar to that consumed by Americans and the other similar to the DASH Combination Diet, which reliably lowers average LDL-C and blood pressure levels.  Diets were fed to each individual for five weeks each, in a double blind, randomized crossover design. Participants were provided complete diets prepared by the PBRC Metabolic Kitchen. The last subject completed the intervention in September 2005 and genotyping of the SNPs in candidate genes is ongoing.

Human Obesity Gene Map

The first edition of the Human Obesity gene map was published in 1996. Since then, 10 updates of the map have been published. This annual review has grown rapidly and has been for several years the most cited article of the Obesity Research journal. It has been well received by the scientific community as evidenced by its relatively high rate of citation over the last 10 years (about 750 citations by the end of 2006).

The online version of the Obesity Gene Map Database (OGMDB) was established in 2000, and a fully functional version of the Obesity Gene Map website to support the printed version of the map became available in 2003. The site has become very popular among obesity researchers. The OGMDB resource enjoyed about 15,000 hits per month in the last few years, with thousands of regular visitors. Interestingly, the most assiduous users were from the pharmaceutical industry and from biotechnology companies.

However, developing the yearly printed update of the map became progressively a major burden. For instance, the last rendition published in Obesity in 2006 reached a total of 116 journal pages. It had become an effort of a magnitude that could not be sustained without the addition of human resources dedicated solely to the project. Despite our best efforts, funds could not be raised in a timely fashion to make it possible for us to continue publishing these yearly updates. The citation for the latest and final printed version of the gene map is: Rankinen T, Zuberi A, Chagnon YC, Weisnagel SJ, Argyropoulos G, Walts B, Perusse L, Bouchard C. The human obesity gene map: the 2005 update. Obesity (Silver Spring). 2006 Apr;14(4):529-644.

Human Fitness Gene Map

This project began in 2001 as The human gene map for performance and health-related fitness phenotypes and has been well received by the exercise physiology community. The series was selected in 2004 as one of the seven Impact Papers published in Medicine and Science in Sports and Exercise by the former and current Editors-in-Chief of MSSE. The sixth version was recently published ( Rankinen T, Bray MS, Hagberg JM, Perusse L, Roth SM, Wolfarth B, Bouchard C. The human gene map for performance and health-related fitness phenotypes: the 2005 update. Med Sci Sports Exerc. 2006 Nov;38(11):1863-88). Future updates will be published every two years.

 

Québec Family Study (QFS)

The Québec Family Study (QFS) was initiated in 1978 when the principal investigator (C Bouchard) was on faculty at Laval University in Quebec City, Canada. The study has been divided into three phases. Participants in QFS are of French descent living within about 50 miles (80 km) around Quebec City. They were mainly recruited through the media and referrals from other participants and colleagues.

Recruitment and Sample Size

During Phase 1, from 1978 to 1982, data were gathered on 1,630 subjects, including 727 parents ranging in age from 30 to 59 years of age and 903 offspring, 8 to 26 years old. None were diabetic or treated for cardiovascular disease. These families were randomly ascertained with regards to obesity. The average socioeconomic status of these families based on the occupation of the father was comparable to the general French-Canadian population. In addition to traditional nuclear family members (ie, parents and their singleton offspring), there were twins, adoptees, cousins, and foster parents.

During Phase 2 of the study, which began in 1992, 385 subjects from 105 Phase 1 families agreed to be measured for a second time after an average follow-up period of 12 years, and new families with one or more obese members were recruited, thus, 372 new subjects from 74 families were incorporated in the study. Only families with biological offspring were incorporated into this phase.

Phase 3 of the study started in 1997 with 5-year follow-up measurements of families tested in Phase 2 and with recruitment of new families with obese probands.  At the end of Phase 3, the QFS cohort included more than 2,000 subjects from more than 500 families. Among them, phenotype and DNA are available on 930 subjects belonging to 292 nuclear families.  There was a total of 158 families with 511 subjects who had completed the measurement protocols of the follow-up periods.

Phenotypes

An overview of the phenotypes available on all or almost all QFS subjects is given below. Subjects of QFS were also enrolled in ancillary studies. The panel of measurements undertaken in such studies is beyond the list provided below.

Concomitant and Behavioral Variables: Medical history: physical examination, number of pregnancies, cause of death, familial history of disease, smoking, consumption of alcohol, medication, sleep habits, personal income, family income, level of education, occupation, age at menarche, menstrual status (pre- or post-menopausal), hormone replacement therapy and others.

Body Fat and Regional Fat Distribution: Body weight, body mass index (BMI), body composition (percent body fat, fat mass, fat free mass) assessed by underwater weighing, skinfold thicknesses at 8 different sites, waist circumference, hip circumference, waist to hip ratio, abdominal fat (total, subcutaneous and visceral) assessed by an L4-L5 CT scan.

Energy Intake and Physical Activity Level: 3-day dietary record for assessment of total energy, macronutrient (carbohydrate, lipid and protein) and micronutrient intakes. History of food habits. Eating behaviors questionnaire (TFEQ).  3-day activity record and physical activity history.

Energy Metabolism and Fitness: Resting metabolic rate and substrate oxidation rate, measurements of sitting, standing and exercise metabolic rates.  Submaximal exercise capacity.

Risk Factor Profile: Resting blood pressure, resting heart rate, plasma levels of glucose and insulin in a fasting state and following an oral glucose tolerance test; fasting plasma levels of lipids, lipoproteins and apolipoproteins (CHOL, TG, VLDL-CHOL, LDL-CHOL, VLDL-TG, LDL-TG, HDL-CHOL, HDL2-CHOL, HDL3-CHOL, apoA1, apoB, VLDL-apoB, LDL-apoB, Lp(a), proportion of small dense LDL phenotype, LDL and HDL particle size, cholesteryl ester transfer protein).

Ancillary Studies: Several phenotypes have been obtained on subsets of the QFS cohort in the context of a number of ancillary studies. These measurements include: echocardiographic assessment, isometric strength measurements, adipose tissue biopsies and morphological and biochemical studies, vastus lateralis muscle biopsies with fiber type determination and biochemical studies, cold tolerance tests, catecholamine studies, panel of steroid assays, pulmonary ventilation tests, etc.

Investigators

The study was conceived by C Bouchard. The first phase was undertaken under the leadership of Drs. C Bouchard, A Tremblay, and C Allard.  Other investigators who joined the leadership of QFS over time include Drs. J-P Després, G Thériault, L Pérusse, J-A Simoneau, and Y Chagnon.

The day-to-day management of the project was the responsibility of G Fournier and L Allard. C Leblanc provided the computer and data management support, G Bouchard the equipment maintenance and calibration, and Monique Chagnon the Clinical Chemistry and Genetic Laboratory supervision.

Many other scientists and technicians contributed to the project including the following:  J Bergeron, N Bergeron, I Borecki, C Couillard, Y Deshaies, FT Dionne, D Joanisse, B Lamarche, C Leblanc, S Lemieux, PJ Lupien, A Marette, P Mauriege, S Moorjani, A Nadeau, M Province, DC Rao, T Rice, A Tchernof, MC Thibault, MC Vohl, and J Weisnagel.

Grant Support:

The Québec Family Study began in 1978 with funding from the Fonds pour la formation de chercheurs et l'action concertée du Québec (FCAC), Fonds de la Recherche en Santé du Québec (FRSQ), Fonds pour la formation de Chercheurs et l’A

ide à la Recherche (FCAR), and the Haut-Commissariat à la Jeunesse, aux Loisirs et aux Sports of Québec (HCJLS), Conseil pour la recherche en santé du Québec (CRSQ), Ministère du loisir, de la chasse et de la pêche du Québec (MLCP), and from Health and Welfare Canada. From 1989 to 1992, Phase 2, the Québec Family Study was funded by an operating grant from the Medical Research Council of Canada (MA-10499). In Phase 3, from 1992 to 1997, the study was funded by a Program Grant from MRC (PG-11811) and from 1998 to 2001 by a Group Grant from the same Council. Additional funding has been received over the years from the Heart and Stroke Foundation, the Canadian Diabetes Association, the Canadian Fitness and Lifestyle Research Institute, and other agencies as well.

List of Publications based on QFS:

The papers listed below have been published based on the data of the Québec Family Study.

  1. Chagnon, Y, Bouchard C, Allard C. Isoelectric focusing of red cell phosphoglucomutase (E.C.: 2.7.5.l) at the PGM1 locus in a French-Canadian population. Hum Genet 59: 36-8, 1981.
  2. Bouchard C. Family resemblance in selected biological traits: a preliminary report. In: Lavallée H, Shephard RJ, editors. Croissance et développement de l'enfant Child growth and development. Trois Rivières: Université du Québec à Trois-Rivières; 1982. p. 122-30.
  3. Lortie G, Bouchard C, Leblanc C, Tremblay A, Simoneau JA, Thériault G, and Savoie JP. Familial similarity in aerobic power. Hum Biol 54: 801-12, 1982.
  4. Allard C, Leblanc C, Talbot J, Leclerc S, Bouchard C. Familial aggregation of PWC150, blood lipid composition and serum uric acid in adopted and biological siblings. In: Knuttgen HG, Vogel JA, Poortmans J, editors. Biochemistry of exercise. International series on sport sciences, vol. 13. Champaign, IL: Human Kinetics Publishers; 1983. p. 219-24.
  5. Bouchard C, Leblanc J, Côté J, Jobin J, Jobin M, Labrie A, Leblanc C. Familial resemblance in catecholamine changes to cold stress and maximal exercise. Hum Hered, 33: 170-8, 1983.
  6. Bouchard C, Tremblay A, Leblanc C, Lortie G, Savard R, Thériault G. A method to assess energy expenditure in children and adults. Am J Clin Nutr 37: 461-7, 1983.
  7. Leclerc S, Bouchard C, Talbot J, Gauvin R, Allard C. Association between serum high-density lipoprotein cholesterol and body composition in adult men. Int J Obes 7:555-61, 1983.
  8. Lortie G, Bouchard C, Simoneau JA, Thériault G. La consommation maximale d'oxygène: les relations avec l'âge, le sexe, la graisse corporelle et le style de vie. In: Landry F, editor. Health risk estimation, risk reduction and health promotion. Proceedings of the 18th annual meeting of the Society of Prospective Medicine. Ottawa: Canadian Public Health Association; 1983. p. 79-86.
  9. Perusse L, Bouchard C, Leblanc C, Thériault G, Tremblay A. Physical Fitness and Lifestyle. In: Landry F, editor. Health risk estimation, risk reduction and health promotion. Proceedings of the 18th annual meeting of the Society of Prospective Medicine. Ottawa: Canadian Public Health Association; 1983. p. 71-8.
  10. Savard R, Bouchard C Leblanc C, Tremblay A. Familial resemblance in fatness indicators. Ann Hum Biol 10: 111-8, 1983.
  11. Savard R, Bouchard C, Tremblay A, Leblanc C. Familial resemblance for energy intake and energy expenditure and their relationships with body fatness. In: Landry F, editor. Health risk estimation, risk reduction and health promotion. Proceedings of the 18th annual meeting of the Society of Prospective Medicine. Ottawa: Canadian Public Health Association; 1983. p. 501-7.
  12. Tremblay A, Leblanc C, Sévigny J, Savoie JP, Bouchard C. The relationship between energy intake and expenditure: a sex difference. In: Landry F, editor. Health risk estimation, risk reduction and health promotion. Proceedings of the 18th annual meeting of the Society of Prospective Medicine. Ottawa: Canadian Public Health Association; 1983. p. 115-9.
  13. Tremblay A, Sévigny J, Leblanc C, Bouchard C. The reproducibility of a three-day dietary record. Nutr Res 3: 819-30, 1983.
  14. Bouchard C, Lortie G, Simoneau JA, Leblanc C, Thériault G, Tremblay A. Submaximal power output in adopted and biological siblings. Ann Hum Biol 11: 303-9, 1984.
  15. Perusse L, Bouchard C, Leblanc C, Tremblay A. Energy intake and physical fitness in children and adults of both sexes. Nutr Res 4:363-70, 1984.
  16. Bouchard C. Inheritance of fat distribution and adipose tissue metabolism. In: Vague J, Björntorp P, Guy-Grand B, Rebuffé-Scrive M, Vague P, editors. Metabolic complications of human obesities. Amsterdam: Elsevier Science Publishers B.V; 1985. p. 87-96.
  17. Bouchard C. Reproducibility of body composition and adipose- tissue measurements in humans. In: Roche AF, editor. Body-composition assessments in youth and adults. Report of the sixth Ross conference on medical research. Columbus, OH: Ross Laboratories; 1985. p. 9-14.
  18. Bouchard C, Perusse L, Rivest J, Roy R, Morissette J, Allard C, Thériault G, Leblanc C, Tremblay A. HLA system, body fat and fat distribution in children and adults. Int J Obes 9:411-22, 1985.
  19. Bouchard C, Savard R, Després J-P, Tremblay A, Leblanc C. Body composition in adopted and biological sibs. Hum Biol 57:61-75, 1985.
  20. Després J-P, Allard C, Tremblay A, Talbot J, Bouchard C. Evidence for a regional component of body fatness in the association with serum lipids in men and women. Metabolism 34:967-73, 1985.
  21. Himes JH, Bouchard C. Do the new Metropolitan Life Insurance weight-height tables correctly assess body frame and body fat relationships?  Am J Public Health 75(9): 1076-9, 1985.
  22. Leclerc S, Allard C, Talbot J, Gauvin R, Bouchard C. High density lipoprotein cholesterol, habitual physical activity and physical fitness. Atherosclerosis 57:43-51, 1985.
  23. Seoane NA, Roberge AG, Pagé M, Allard C, Bouchard C. Selected indices of iron status in adolescents. J Can Dietetic Assoc 46:298-303, 1985.
  24. Couture L, Chagnon M, Allard C, Bouchard C. Esterase D polymorphism in a French-Canadian population. Hum Genet 73:276, 1986.
  25. Simoneau JA, Lortie G, Boulay MR, Marcotte M, Thibault MC, Bouchard C. Inheritance of human skeletal muscle and anaerobic capacity adaptation to high-intensity intermittent training. Int J Sports Med 7:167-71, 1986.
  26. Bouchard C. Genetics of body fat, energy expenditure and adipose tissue metabolism. In: Berry EM, Blondheim SH, Eliahou HE,Shafrir E, editors. Recent advances in Obes Res: V. Proceedings of the 5th International Congress on Obesity. Jerusalem (Israël). London: John Libbey; 1987. p. 16-25.
  27. Bouchard C, Tremblay A. Genetics of body composition and fat distribution. In: Norgan NG, editor. Human Body Composition and Fat Distribution. Report of an EC Workshop, London 10-12 December 1985. Euro Nutr 8:175-88, 1987.
  28. Couture L, Chagnon M, Allard C, Bouchard C. Adenosine deaminase, adenylate kinase and acid phosphatase polymorphism in a French-Canadian population. Hum Genet 75:188, 1987.
  29. Perusse L, Leblanc C, Tremblay A, Allard C, Thériault G, Landry F, Talbot J, Bouchard C. Familial aggregation in physical fitness, coronary heart disease risk factors, and pulmonary function measurements. Prev Med 16:607-15, 1987.
  30. Perusse L, Lortie G, Leblanc C, Tremblay A, Thériault G, Bouchard C. Genetic and environmental sources of variation in physical fitness. Ann Hum Biol 14:425-34, 1987.
  31. Bouchard C. Human variation in anthropometric dimensions. In: Lohman TG, Roche AF, Martorell R, editors. Anthropometric Standardization Reference Manual. Champaign, IL: Human Kinetics; 1988. p. 103-5.
  32. Bouchard C. Inheritance of human fat distribution. In: Bouchard C, Johnston FE, editors. Fat distribution during growth and later health outcomes. Current Topics in Nutrition and Disease. Vol. 17. New York: Alan R. Liss, Inc; 1988. p. 103-25.
  33. Bouchard C. Genetic factors in the regulation of adipose tissue distribution. Acta Med Scand, Suppl. 723:135-41, 1988.
  34. Bouchard C, Perusse L, Leblanc C, Tremblay A, Thériault G. Inheritance of the amount and distribution of human body fat. Int J Obes 12:205-15, 1988.
  35. Després J-P, Tremblay A, Perusse L, Leblanc C, Bouchard C. Abdominal adipose tissue and serum HDL-cholesterol: association independent from obesity and serum triglyceride concentration. Int J Obes 12:1-13, 1988.
  36. Després J-P, Tremblay A, Leblanc C, Bouchard C. Effect of the amount of body fat on the age-associated increase in serum cholesterol. Prev Med 17:423-31, 1988.
  37. Després J-P, Tremblay A, Thériault G, Perusse L, Leblanc C, Bouchard C. Relationships between body fatness, adipose tissue distribution and blood pressure in men and women. J Clin Epidemiol 41:889-97, 1988.
  38. Malina R, Bouchard C. Subcutaneous fat distribution during growth. In: Bouchard C, Johnston FE, editors. Fat distribution during growth and later health outcomes. Current Topics in Nutrition and Disease. Vol. 17. New York: Alan R. Liss, Inc; 1988. p. 63-84.
  39. Perusse L, Tremblay A, Leblanc C, Cloninger CR, Reich T, Rice J, Bouchard C. Familial resemblance in energy intake: contribution of genetic and environmental factors. Am J Clin Nutr 47:629-35, 1988.
  40. Bouchard C, Tremblay A, Perusse L, Leblanc C, Thériault G, George V. Cohabitation, activity level and energy intake in parent-child resemblance for selected biological traits. Am J Hum Biol 1:209-15, 1989.
  41. Brun LD, Gagné C, Julien P, Tremblay A, Moorjani A, Bouchard C, Lupien PJ. Familial lipoprotein lipase activity deficiency: study of total body fatness and subcutaneous fat distribution. Metabolism 38:1005-9, 1989.
  42. George V, Tremblay A, Després J-P, Leblanc C, Perusse L, Bouchard C. Evidence for the existence of small and large eaters of similar fat-free mass and activity level. Int J Obes 13:43-53, 1989.
  43. Himes JH, Bouchard C. Validity of anthropometry in classifying youths as obese. Int J Obes 13:183-93, 1989.
  44. Perusse L, Després J-P, Tremblay A, Leblanc C, Talbot J, Allard C, Bouchard C. Genetic and environmental determinants of serum lipids and lipoproteins in French Canadian families. Arteriosclerosis 9:308-18, 1989.
  45. Perusse L, Rice T, Bouchard C, Vogler GP, Rao DC. Cardiovascular risk factors in a French Canadian population: resolution of genetic and familial environmental effects on blood pressure using extensive information on environmental correlates. Am J Hum Genet 45:240-51, 1989.
  46. Perusse L, Tremblay A, Leblanc C, Bouchard C. Genetic and environmental influences on level of habitual physical activity and exercise participation. Am J Epidemiol 129:1012-22, 1989.
  47. Rice T, Vogler GP, Perusse L, Bouchard C, Rao DC. Cardiovascular risk factors in a French Canadian population: resolution of genetic and familial environ-mental effects on blood pressure using twins, adoptees, and extensive information on environmental correlates. Genet Epidemiol 6:571-88, 1989.
  48. Tremblay A, Plourde G, Després J-P, Bouchard C. Impact of dietary fat content and fat oxidation on energy intake in humans. Am J Clin Nutr 49:799-805, 1989.
  49. Rice T, Bouchard C, Borecki IB, Rao DC. Commingling and segregation analysis of blood pressure in a French Canadian population. Am J Hum Genet 46:37-44, 1990.
  50. Bouchard C. Genetic aspects of anthropometric dimensions relevant to assessment of nutritional status. In: Himes J, editor. Anthropometric assessment of nutritional status. New York: Alan R. Liss; 1991. p. 213-31.
  51. Bouchard C. Editorial. L'obésité est-elle héréditaire? La Revue du Praticien 19:1773-6, 1990.
  52. Meyer F, Moisan J, Marcoux D, Bouchard C. Dietary and physical determinants of Menarche. Epidemiology 1:377-81, 1990.
  53. George V, Tremblay A, Després J-P, Leblanc C, Bouchard C. Effect of dietary fat content on total and regional adiposity in men and women. Int J Obes 14:1085-94, 1990.
  54. Després JP, Tremblay A, Prud’homme D, Bouchard C.  Effets métaboliques de l'évolution de la distribution régionale du tissu adipeux avec l'âge.  Age et nutrition 2:7-18, 1991.
  55. Himes JH, Bouchard C, Pheley AM.  Lack of correspondence among measures identifying the Obese.  Am J Prev Med  7:107-11, 1991.
  56. Borecki IB, Rice T, Bouchard C, Rao DC.  Commingling analysis of generalized body mass and composition measures:  the Québec Family Study.  Int J Obes 15:763-73, 1991.
  57. Mauriège P, Després J-P, Prud’homme D, Pouliot MC, Marcotte M, Tremblay A, Bouchard C. Regional variation in adipose tissue lipolysis in lean and obese men. J Lipid Res 32:1625-33, 1991.
  58. Bouchard C.  Genetic aspects of human obesity.  In: Belfiore F, Jeanrenaud B, Papalia D, editors. Obesity: Basic Concepts and Clinical Aspects, Frontiers in Diabetes, Vol 11  Basel: Karger; 1992. p. 28-36.
  59. Bouchard C, Tremblay A, Després J-P, Dériaz O, Dionne FT.  The genetics of Body energy content and energy balance:  an overview.  In:  Bray GA and Ryan DH, editors.  The Science of Food Regulation:  food intake, taste, nutrient partitioning and energy expenditure.  Baton Rouge, LA: Louisiana State University Press; 1992. p. 3-21.
  60. Bouchard C. Heredity and regional fat distribution during growth. In: Hernandez M, Argente J, editors. Human growth: Basic and clinical aspects. The Netherlands: Elsevier Science BV; 1992. p. 227-32.
  61. Després J-P, Moorjani S, Lupien PJ, Tremblay A, Nadeau A, Bouchard C. Genetic aspects of susceptibility to obesity and related dyslipidemias. Molec Cell Biochem 113:151-69, 1992.
  62. Spiegelman D, Israel RG, Bouchard C, Willett WC. Absolute fat mass, percent body fat, and body-fat distribution: which is the real determinant of blood pressure and serum glucose? Am J Clin Nutr 55:1033-44, 1992.
  63. Lemieux S, Després J-P, Nadeau A, Prud’homme D, Tremblay A, Bouchard C. Heterogeneous glycaemic and insulinaemic responses to oral glucose in non-diabetic men: interactions between duration of obesity, body fat distribution and family history of diabetes mellitus. Diabetologia 35:653-9, 1992.
  64. Rice T, Borecki IB, Bouchard C, Rao DC. Commingling analysis of regional fat distribution measures: the Québec family study. Int J Obes 16:831-44, 1992.
  65. Rice T, Borecki IB, Bouchard C, Rao DC. Segregation analysis of fat mass and other body composition measures derived from underwater weighing. Am J Hum Genet 52:967-73, 1993.
  66. Song TMK, Malina RM, Bouchard C. Familial resemblance in somatotype. Am J Hum Biol 5:265-72, 1993.
  67. Rice T, Borecki IB, Bouchard C, Rao DC. Segregation analysis of body mass index in an unselected French-Canadian sample: the Québec Family Study. Obes Res 1:288-94, 1993.
  68. Borecki IB, Bonney GE, Rice T, Bouchard C, Rao DC. Influence of genotype-dependent effects of covariates on the outcome of segregation analysis of the body mass index. Am J Hum Genet 53:676-87, 1993.
  69. Lemieux S, Prud’homme D, Bouchard C, Tremblay A, Després J-P . Sex differences in the relation of visceral adipose tissue accumulation to total body fatness. Am J Clin Nutr 58:463-7, 1993.
  70. Després J-P, Verdon MF, Moorjani S, Pouliot MC, Nadeau A, Bouchard C, Tremblay A, Lupien PJ. Apolipoprotein-E polymorphism modifies relation of hyperinsulinemia to hypertriglyceridemia. Diabetes 42 (10):1474-81, 1993.
  71. Vohl MC, Dionne F, Dériaz O, Chagnon M, Bouchard C. Detection of a MspI restriction fragment length polymorphism for the human sex hormone-binding globulin (SHBG) gene. Hum Genet 93:84, 1994.
  72. Dériaz O, Dionne FT, Perusse L, Tremblay A, Vohl MC, Côté G, Bouchard C. DNA variation in the genes of the Na,K-Adenosine Triphosphatase and its relation with resting metabolic rate, respiratory quotient, and body fat. J Clin Invest 93:838-43, 1994.
  73. Bouchard C, Perusse L. Genetics of obesity: Family studies. In: Bouchard C, editor. The Genetics of Obesity. Boca Raton, FL: CRC Press; 1994. p. 79-92.
  74. Borecki IB, Province MA, Bouchard C, Rao DC. Genetics of obesity: Etiologic heterogeneity and temporal trends. In: Bouchard C, editor. The Genetics of Obesity. Boca Raton, FL: CRC Press; 1994. p. 109-23.
  75. Perusse L, Bouchard C. Genetics of energy intake and food preferences. In: Bouchard C, editor. The Genetics of Obesity Boca Raton, FL: CRC Press; 1994. p. 125-34.
  76. Bouchard C, Dériaz O, Perusse L, Tremblay A. Genetics of energy expenditure in humans. In: Bouchard C, editor. The Genetics of Obesity. Boca Raton, FL: CRC Press; 1994. p. 135-45.
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  110. Gagnon J, Mauriège P, Roy S, Sjöström D, Chagnon YC, Dionne FT, Oppert JM, Perusse L, Sjöström L, Bouchard C. The Trp64Arg mutation of the b3 adrenergic receptor gene has no effect on obesity phenotypes in the Québec Family Study and Swedish Obese Subjects cohorts. J Clin Invest 98:2086-93, 1996.
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  150. Rosmond R, Chagnon YC, Holm G, Chagnon M, Perusse L, Lindell K, Carlsson B, Bouchard C, and Bjorntorp P. A Glucocorticoid Receptor Gene Marker is Associated with Abdominal Obesity, Leptin, and Dysregulation of the Hypothalamic-Pituitary-Adrenal Axis. Obes Res 8:211-8, 2000.
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  152. Rosmond R, Chagnon YC, Chagnon M, Perusse L, Bouchard C, Bjorntorp P. A Polymorphism of the 5’-flanking region of the glucocorticoid receptor gene locus is associated with basal cortisol secretion in men. Metabolism 49:1197-9, 2000.
  153. Ukkola O, Rankinen T, Weisnagel SJ, Sun G, Perusse L, Chagnon YC, Despres JP, Bouchard C.  Interactions Among the alpha 2-, beta 2-, and beta 3-Adrenergic Receptor Genes and Obesity-Related Phenotypes in the Quebec Family Study.  Metabolism  49:1063-70, 2000.
  154. Katzmarzyk PT, Perusse L, Tremblay A, Bouchard C. No association between resting metabolic rate or respiratory exchange ratio and subsequent changes in body mass and fatness: 5 ½ year follow up of the Quebec Family Study. Eur J Clin Nutr. 54:610-4, 2000.
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  156. Doucet E, St-Pierre S, Almeras N, Mauriege P, Despres JP, Richard D, Bouchard C and Tremblay A. Fasting insulin levels influence plasma leptin levels independently from the contribution of adiposity: evidence from both a cross-sectional and an intervention study. J Clin Endocrinol Metab 85: 4231-7, 2000.
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  158. Campbell PT, Katzmarzyk PT, Malina RM, Rao DC, Perusse L, Bouchard C. Prediction of physical activity and PWC150 in young adulthood from childhood and adolescence with consideration of parental measures. Am J Hum Biol 13:190-6, 2001.
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  161. Doucet E, St-Pierre S, Almeras N, Despres J-P, Bouchard C, and Tremblay A.  Evidence for the existence of adaptive thermogenesis during weight loss.  British J Nutr 85:715-23, 2001.
  162. Seidell JC, Perusse L, Despres J-P, and Bouchard C.  Waist and hip circumferences have independent and opposite effects on cardiovascular disease risk factors: the Quebec Family Study.  Am J Clin Nutr 74:315-21, 2001.
  163. Ukkola O, Garenc C, Perusse L, Bergeron J, Despres J-P, Rao DC and Bouchard C.  Genetic variation at the lipoprotein lipase locus and plasma lipoprotein and insulin levels in the Quebec Family Study. Arteriosclerosis 158: 199-206, 2001.
  164. Ukkola O, Perusse L, Chagnon YC, Despres J-P and Bouchard C.  Interactions among the glucocorticoid receptor, lipoprotein lipase and adrenergic receptor genes and abdominal fat in the Quebec Family Study. Int J Obes 25: 1332-9, 2001.
  165. Lanouette C-M, Giacobino J-P, Perusse L, Lacaille M, Yvon C, Chagnon M, Kuhne F, Bouchard C, Muzzin P and Chagnon YC.  Association between uncoupling protein 3 gene and obesity-related phenotypes in the Quebec Family Study.  Mol Med 7(7): 433-41, 2001.
  166. Tanaka S, Togashi K, Rankinen T, Perussse L, Leon AS, Rao DC, Skinner JS, Wilmore JH and Bouchard C.  Is adiposity at normal body weight relevant for cardiovascular disease risk? Int J Obes 26: 176-83, 2002.
  167. Simonen RL, Perusse L, Rankinen T, Rice T, Rao DC and Bouchard C.  Familial aggregation of physical activity levels in the Quebec family study.  Med Sci Sports Exerc  34(7): 1137-42, 2002.
  168. Ukkola O, Ravussin E, Jacobson P, Perusse L, Rankinen T, Tschop M, Heiman ML, Leon AS, Rao DC, Skinner JS, Wilmore JH, Sjostrom L and Bouchard C.  Role of ghrelin polymorphisms in obesity based on three different studies. Obes Res 10; 782-91, 2002.
  169. Boucher N, Lanouette CM, Larose M, Perusse L, Bouchard C, and Chagnon YC. A +2138InsCAGACC polymorphism of the melanocortin receptor 3 gene is associated in human with fat level and partitioning in interaction with body corpulence.  Molec Med 8(3): 158-65, 2002.
  170. Bosse Y, Perusse L, Despres J-P, Lamarche B, Chagnon YC, Rice T, Rao DC, Bouchard C and Vohl M-C.  Evidence for a major quantitative trait locus on chromosome 17q21 affecting low-density lipoprotein peak particle diameter. Circulation 107: 2361-8, 2003.
  171. Robitaille J, Despres JP, Perusse L, Vohl MC.  The PPAR-gamma P12A polymorphism modulates the relationship between dietary fat intake and components of the metabolic syndrome: results from the Quebec Family Study. Clin Genet 63(2):109-16, 2003.
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  173. Jacqmain M, Doucet E, Despres J-P, Bouchard C and Tremblay A.  Calcium intake, body composition, and lipoprotein-lipid concentrations in adults.  Am J Clin Nutr 77:1448-52, 2003.
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  175. Doucet E, Imbeault P, St-Pierre S, Almeras N, Mauriege P, Despres J-P, Bouchard C and Tremblay A.  Greater than predicted decrease in energy expenditure during exercise after body weight loss in obese men.  Clin Sci; 105: 89-98, 2003.
  176. Drapeau V, Provencher V, Lemieux, Despes J-P, Bouchard C and Tremblay A.  Do 6-y changes in eating behaviors predict changes in body weight?  Results from the Quebec Family Study.  Int J Obes 27: 808-14, 2003.
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  184. Bosse Y, Vohl M-C, Despres J-P, Lamarche B, Rice T, Rao DC, Bouchard C and Perusse L. Heritability of LDL peak particle diameter in the Quebec Family Study. Genet Epidemiol 25:375-81, 2003.
  185. Tanaka S, Togahi K, Rankinen T, Perusse L, Leon AS, Rao DC, Skinner JS, Wilmore JH, Depres J-P, and Bouchard C.  Sex differences in the relationship of abdominal fat to cardiovascular disease risk among normal-weight white subjects. Int J Obes Relat Metab Disord 28: 320-3, 2004.
  186. Paradis M-E, Couture P, Bosse Y, Despres J-P, Perussse L, Bouchard C, Vohl M-C, and Lamarche B.   The T111l mutation in the EL gene modulates the impact of dietary fat on the HDL profile in women.  J Lipid Res 44: 1902-8, 2003.
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  189. Drapeau V, Despres J-P, Bouchard C, Allard L, Fournier G, Leblanc C and Tremblay A.  Modifications in food-group consumption are related to long-term body-weight changes.  Am J Clin Nutr 80:29-37, 2004.
  190. Bouchard L, Drapeau V, Provencher V, Lemieux S, Chagnon Y, Rice T, Rao DC, Vohl M-C, Tremblay, A, Bouchard C and Perusse L.  Neuromedin b: a strong candidate gene linking eating behaviors and susceptibility to obesity.  Am J Clin Nutr 80: 1478-86, 2004.
  191. Bosse Y, Chagnon YS, Despres J-P, Rice T, Rao DC, Bouchard C, Perusse L, and Vohl M-C.  Compendium of genome-wide scans of lipid-related phenotypes: adding a new genome-wide search of apolipoprotein levels.  J Lipid Res  45: 2174-84, 2004.
  192. Bouchard L, Weisnagel SJ, Engert JC, Hudson TJ, Bouchard C, Vohl M-C, and Perusse L.  Human resistin gene polymorphism is associated with visceral obesity and fasting and oral glucose stimulated C-peptide in the Quebec Family Study.  J Endocrinol Invest 27: 1003-9, 2004.
  193. Loos RJF, Rankinen T, Tremblay A, Perusse L, Chagnon Y, and Bouchard C.  Melanocortin-4 receptor gene and physical activity in the Quebec Family Study.  Int J Obes 29:420-8, 2005.
  194. Eisenmann JC, Katzmarzyk PT, Perusse L, Tremblay A, Despres J-P, Bouchard C. Aerobic fitness, body mass index, and CVD risk factors among adolescents: the Quebec family study. Int J Obes 29(9):1077-83, 2005.
  195. Santoro N, Rankinen T, Perusse L, Loos RJ, Bouchard C. MC4R marker associated with stature in children and young adults: a longitudinal study. J Pediatr Endocrinol Metab 18(9): 859-63, 2005.
  196. Boule NG, Bouchard C, Tremblay A. Physical fitness and the metabolic syndrome in adults from the Quebec Family Study. Can J Appl Physiol 30(2):140-56, 2005.
  197. Bouchard L, Mauriege P, Vohl MC, Bouchard C, Perusse L. Plasminogen-activator inhibitor-1 polymorphisms are associated with obesity and fat distribution in the Quebec Family Study: evidence of interactions with menopause. Menopause 12(2):136-43, 2005.
  198. Katzmarzyk P and Bouchard C. Genetic influences on human body composition.  IN: Heymsfield SB, Lohman TG, Wang Z, and Going SB (eds.). Human Body Composition. Human Kinetics, 2nd Edition, chap 16; 2005. pp 243-57.
  199. Bosse Y, Feitosa MF, Despres JP, Lamarche B, Rice T, Rao DC, Bouchard C, Perusse L, Vohl MC.  Detection of a major gene effect for LDL peak particle diameter and association with apolipoprotein H gene haplotype.  Atherosclerosis 182(2): 231-9, 2005.
  200. Provencher V, Perusse L, Bouchard L, Drapeau V, Bouchard C, Rice T, Rao DC, Tremblay A, Despres JP, Lemieux S.  Familial resemblance in eating behaviors in men and women from the Quebec Family Study.  Obes Res 13(9): 1624-9, 2005.
  201. Bosse Y, Bouchard L, Despres JP, Bouchard C, Perusse L, Vohl MC.  Haplotypes in the phospholipids transfer protein gene are associated with obesity-related phenotypes: the Quebec Family Study.  Int J Obes 29: 1338-45, 2005.
  202. Loos RJ, Rankinen T, Chagnon Y, Tremblay A, Perusse L, Bouchard C.  Polymorphisms in the leptin receptor genes in relation to resting metabolic rate and respiratory quotient in the Quebec Family Study.  Int J Obes 30(1): 183-90, 2006.
  203. Alfonzo-Gonzalez G, Doucet E, Bouchard C, Tremblay A.  Greater than predicted decrease in resting energy expenditure with age: cross-sectional and longitudinal evidence.  Eur J Clin Nutr 60(1): 18-24, 2006.
  204. Rankinen T, Bouchard C. Genetics of food intake and eating behavior phenotypes in humans. Annu Rev Nutr 26: 413-34, 2006.
  205. Desilets MC, Garrel D, Couillard C, Tremblay A, Despres JP, Bouchard C, Delisle H. Ethnic differences in body composition and other markers of cardiovascular disease risk: study in matched Haitian and white subjects from Quebec. Obesity 14(6): 1019-27, 2006.
  206. Bailey SD, Loredo-Osti JC, Lepage P, Faith J, Fontaine J, Desbiens KM, Hudson TJ, Bouchard C, Gaudet D, Perusse L, Vohl MC, Engert JC. Common polymorphisms in the promoter of the visfatin gene (PBEF1) influence plasma insulin levels in a French-Canadian population. Diabetes 55(10): 2896-902, 2006.
  207. Aissani B, Perusse L, Lapointe G, Chagnon YC, Bouchard L, Walts B, Bouchard C.  A quantitative trait locus for body fat on chromosome 1q43 in French Canadians: linkage and association studies.  Obesity 14(9): 1605-15, 2006.
  208. Jacobson P, Rankinen T, Tremblay A, Perusse L, Chagnon YC, Bouchard C. Resting metabolic rate and respiratory quotient: results from a genome-wide scan in the Quebec Family Study. Am J Clin Nutr 84: 1527-33, 2006.
  209. Dube MC, Joanisse DR, Prud’homme D, Lemieux S, Bouchard C, Perusse L, Lavoie C, Weisnagel SJ. Muscle adiposity and body fat distribution in type 1 and type 2 diabetes: varying relationships according to diabetes type. Int J Obes 30(12): 1721-8, 2006.
  210. Loos RJF, Ruchat S, Rankinen T, Tremblay A, Perusse L, Bouchard C. Adiponectin and adiponectin receptor gene variants in relation to resting metabolic rate, respiratory quotient, and adiposity-related phenotypes in the Quebec Family Study. Am J Clin Nutr 85: 26-34, 2007.
  211. Chaput JP, Despres JP, Bouchard C, Tremblay A. Short sleep duration is associated with reduced leptin levels and increased adiposity: results from the Quebec Family Study. Obesity 15(1): 253-61, 2007.
  212. Eisenmann JC, Malina RM, Tremblay A, Bouchard C.  Adiposity and cardiac dimensions among 9- to 18-year-old youth: the Quebec Family Study.  J Hum Hypertens 12(2): 114-9, 2007.
  213. Choquette A, Bouchard L, Houde A, Bouchard C, Perusse L, Vohl MC.  Associations between USF1 gene variants and cardiovascular risk factors in the Quebec Family Study. Clin Genet 71(3): 245-53, 2007.
  214. Bosse Y, Despres JP, Chagnon YC, Rice T, Rao DC, Bouchard C, Perusse L, Vohl MC. Quantitative trait locus on 15q for a metabolic syndrome variable derived from factor analysis. Obesity 15(3): 544-50, 2007.
  215. Bouchard L, Tremblay A, Bouchard C, Perusse L.  Contribution of several candidate gene polymorphisms in the determination of adiposity changes: results from the Quebec Family Study.  Int J Obes 31(6): 891-9, 2007.
  216. Arsenault B, Lachance D, Lemieux I, Almeras N, Tremblay A, Bouchard C, Perusse L, Despres JP.  Visceral Adipose Tissue Accumulation, Cardiorespiratory Fitness, and Features of the Metabolic Syndrome.  Arch Intern Med  167(14): 1518-25, 2007.
  217. Bouchard L, Bouchard C, Chagnon Y, Perusse L.  Evidence of linkage and association with body fatness and abdominal fat on chromosome 15q26.  Obesity 15(8): 2061-70, 2007.
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