A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population

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• 作者：Rachel M Freathy (1)
  Simon MS Mitchell (1)
  Beatrice Knight (1)
  Beverley Shields (1)
  Michael N Weedon (1)
  Andrew T Hattersley (1)
  Timothy M Frayling (1)
  
• 刊名：Journal of Negative Results in BioMedicine
• 出版年：2006
• 出版时间：December 2006
• 年：2006
• 卷：5
• 期：1
• 全文大小：518KB
• 参考文献：1. Barker DJ, Bull AR, Osmond C, Simmonds SJ: Fetal and placental size and risk of hypertension in adult life. / Bmj 1990,301(6746):259鈥?62. CrossRef
  2. Hales CN, Barker DJ, Clark PM, Cox LJ, Fall C, Osmond C, Winter PD: Fetal and infant growth and impaired glucose tolerance at age 64. / Bmj 1991,303(6809):1019鈥?022. CrossRef
  3. Barker DJ, Godfrey KM, Osmond C, Bull A: The relation of fetal length, ponderal index and head circumference to blood pressure and the risk of hypertension in adult life. / Paediatr Perinat Epidemiol 1992,6(1):35鈥?4. CrossRef
  4. Barker DJ: Fetal origins of coronary heart disease. / Bmj 1995,311(6998):171鈥?74.
  5. Barker DJ: Fetal programming of coronary heart disease. / Trends Endocrinol Metab 2002,13(9):364鈥?68. CrossRef
  6. Hattersley AT, Tooke JE: The fetal insulin hypothesis: an alternative explanation of the association of low birthweight with diabetes and vascular disease. / Lancet 1999,353(9166):1789鈥?792. CrossRef
  7. Smith DW, Truog W, Rogers JE, Greitzer LJ, Skinner AL, McCann JJ, Harvey MA: Shifting linear growth during infancy: illustration of genetic factors in growth from fetal life through infancy. / J Pediatr 1976,89(2):225鈥?30. CrossRef
  8. Dunger DB, Ong KK, Huxtable SJ, Sherriff A, Woods KA, Ahmed ML, Golding J, Pembrey ME, Ring S, Bennett ST, Todd JA: Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood. / Nat Genet 1998,19(1):98鈥?00. CrossRef
  9. Bennett ST, Todd JA: Human type 1 diabetes and the insulin gene: principles of mapping polygenes. / Annu Rev Genet 1996, 30:343鈥?70. CrossRef
  10. Le Stunff C, Fallin D, Schork NJ, Bougneres P: The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity. / Nat Genet 2000,26(4):444鈥?46. CrossRef
  11. Vaessen N, Heutink P, Janssen JA, Witteman JC, Testers L, Hofman A, Lamberts SW, Oostra BA, Pols HA, van Duijn CM: A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction. / Diabetes 2001,50(3):637鈥?42. CrossRef
  12. Vaessen N, Janssen JA, Heutink P, Hofman A, Lamberts SW, Oostra BA, Pols HA, van Duijn CM: Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight. / Lancet 2002,359(9311):1036鈥?037. CrossRef
  13. Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J, Byberg L, Mann V, Axelsson T, Syvanen AC, Leon D, Hattersley AT: Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. / Diabetes 2005,54(2):576鈥?81. CrossRef
  14. Kralovicova J, Gaunt TR, Rodriguez S, Wood PJ, Day IN, Vorechovsky I: Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2? / Diabetes 2006,55(1):260鈥?64. CrossRef
  15. Lindsay RS, Hanson RL, Wiedrich C, Knowler WC, Bennett PH, Baier LJ: The insulin gene variable number tandem repeat class I/III polymorphism is in linkage disequilibrium with birth weight but not Type 2 diabetes in the Pima population. / Diabetes 2003,52(1):187鈥?93. CrossRef
  16. Mitchell SM, Hattersley AT, Knight B, Turner T, Metcalf BS, Voss LD, Davies D, McCarthy A, Wilkin TJ, Smith GD, Ben-Shlomo Y, Frayling TM: Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations. / J Clin Endocrinol Metab 2004,89(1):310鈥?17. CrossRef
  17. Ong KK, Petry CJ, Barratt BJ, Ring S, Cordell HJ, Wingate DL, Pembrey ME, Todd JA, Dunger DB: Maternal-fetal interactions and birth order influence insulin variable number of tandem repeats allele class associations with head size at birth and childhood weight gain. / Diabetes 2004,53(4):1128鈥?133. CrossRef
  18. Hansen SK, Gjesing AP, Rasmussen SK, Glumer C, Urhammer SA, Andersen G, Rose CS, Drivsholm T, Torekov SK, Jensen DP, Ekstrom CT, Borch-Johnsen K, Jorgensen T, McCarthy MI, Hansen T, Pedersen O: Large-scale studies of the HphI insulin gene variable-number-of-tandem-repeats polymorphism in relation to Type 2 diabetes mellitus and insulin release. / Diabetologia 2004,47(6):1079鈥?087. CrossRef
  19. Bennett AJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Taponen S, Hartikainen AL, King VJ, Elliott P, Jarvelin MR, McCarthy MI: Variation at the insulin gene VNTR (variable number tandem repeat) polymorphism and early growth: studies in a large Finnish birth cohort. / Diabetes 2004,53(8):2126鈥?131. CrossRef
  20. Frayling TM, Hattersley AT, McCarthy A, Holly J, Mitchell SM, Gloyn AL, Owen K, Davies D, Smith GD, Ben-Shlomo Y: A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations. / Diabetes 2002,51(7):2313鈥?316. CrossRef
  21. Page GP, George V, Go RC, Page PZ, Allison DB: "Are we there yet?": Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits. / Am J Hum Genet 2003,73(4):711鈥?19. CrossRef
  22. McCarthy MI, Groop PH, Hansen T: Making the right associations. / Diabetologia 2005,48(7):1241鈥?243. CrossRef
  23. Day IN, Chen XH, Gaunt TR, King TH, Voropanov A, Ye S, Rodriguez S, Syddall HE, Sayer AA, Dennison EM, Tabassum F, Barker DJ, Cooper C, Phillips DI: Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster. / J Clin Endocrinol Metab 2004,89(11):5569鈥?576. CrossRef
  24. Handwerger S, Freemark M: The roles of placental growth hormone and placental lactogen in the regulation of human fetal growth and development. / J Pediatr Endocrinol Metab 2000,13(4):343鈥?56.
  25. Lacroix MC, Guibourdenche J, Frendo JL, Muller F, Evain-Brion D: Human placental growth hormone--a review. / Placenta 2002, 23 Suppl A:S87鈥?4. CrossRef
  26. Rosenfeld RG: Insulin-like growth factors and the basis of growth. / N Engl J Med 2003,349(23):2184鈥?186. CrossRef
  27. Butler AA, Le Roith D: Control of growth by the somatropic axis: growth hormone and the insulin-like growth factors have related and independent roles. / Annu Rev Physiol 2001, 63:141鈥?64. CrossRef
  28. Jorgensen JO, Krag M, Jessen N, Norrelund H, Vestergaard ET, Moller N, Christiansen JS: Growth hormone and glucose homeostasis. / Horm Res 2004, 62 Suppl 3:51鈥?5.
  29. Sandhu MS, Heald AH, Gibson JM, Cruickshank JK, Dunger DB, Wareham NJ: Circulating concentrations of insulin-like growth factor-I and development of glucose intolerance: a prospective observational study. / Lancet 2002,359(9319):1740鈥?745. CrossRef
  30. Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG: Replication validity of genetic association studies. / Nat Genet 2001,29(3):306鈥?09. CrossRef
  31. Walder K, Kerr-Bayles L, Civitarese A, Jowett J, Curran J, Elliott K, Trevaskis J, Bishara N, Zimmet P, Mandarino L, Ravussin E, Blangero J, Kissebah A, Collier GR: The mitochondrial rhomboid protease PSARL is a new candidate gene for type 2 diabetes. / Diabetologia 2005,48(3):459鈥?68. CrossRef
  32. Knight B, Shields BM, Hattersley AT: The Exeter Family Study of Childhood Health (EFSOCH): study protocol and methodology. / Paediatr Perinat Epidemiol 2006,20(2):172鈥?79. CrossRef
  33. Bland JM, Altman DG: The use of transformation when comparing two means. / BMJ 1996,312(7039):1153.
  
• 作者单位：Rachel M Freathy (1)
  Simon MS Mitchell (1)
  Beatrice Knight (1)
  Beverley Shields (1)
  Michael N Weedon (1)
  Andrew T Hattersley (1)
  Timothy M Frayling (1)
  
  1. Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
  
• ISSN：1477-5751

文摘

Background Reduced growth during infancy is associated with adult insulin resistance. In a UK Caucasian cohort, the CSH1.01 microsatellite polymorphism in the growth hormone-chorionic somatomammotropin hormone gene cluster was recently associated with increases in adult fasting insulin of approximately 23 pmol/l for TT homozygote males compared to D1D1 or D2D2 homozygotes (P = 0.001 and 0.009; n = 206 and 92, respectively), but not for females. TT males additionally had a 547-g lower weight at 1 year (n = 270; P = 0.008) than D2D2 males. We sought to replicate these data in healthy UK Caucasian subjects. We genotyped 1396 subjects (fathers, mothers and children) from a consecutive birth study for the CSH1.01 marker and analysed genotypes for association with 1-year weight in boys and fasting insulin in fathers. Results We found no evidence for association of CSH1.01 genotype with adult male fasting insulin concentrations (TT/D1D1 P = 0.38; TT/D2D2 P = 0.18) or weight at 1 year in boys (TT/D1D1 P = 0.76; TT/D2D2 P = 0.85). For fasting insulin, our data can exclude the previously observed effect sizes as the 95 % confidence intervals for the differences observed in our study exclude increases in fasting insulin of 9.0 and 12.6 pmol/l for TT relative to D1D1 and D2D2 homozygotes, respectively. Whilst we have fewer data on boys' 1-year weight than the original study, our data can exclude a reduction in 1-year weight greater than 557 g for TT relative to D2D2 homozygotes. Conclusion We have not found association of the CSH1.01 genotype with fasting insulin or weight at 1 year. We conclude that the original study is likely to have over-estimated the effect size for fasting insulin, or that the difference in results reflects the younger age of subjects in this study relative to those in the previous study.