Large-scale studies of the Hphl insulin gene variable-number-of-tandem- repeats polymorphism in relation to Type 2 diabetes mellitus and insulin release

Diabetologia

Volumn 47, Issue 6, 2004, Pages 1079-1087

  Hansen, S K ^a   Gjesing, A P ^a   Rasmussen, S K ^a   Glumer C ^a,b   Urhammer, S A ^a   Andersen, G ^a   Rose, C S ^a   Drivsholm, T ^b   Torekov, S K ^a   Jensen, D P ^a   Ekstrom C T ^a   Borch Johnsen, K ^a,b,c   Jorgensen T ^b   McCarthy, M I ^d   Hansen, T ^a   Pedersen, O ^a,c  

^a STENO DIABETES CENTER   (Denmark)

^b GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^c AARHUS UNIVERSITY   (Denmark)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Altered birthweight; HphI insulin gene variable number of tandem repeats (INS VNTR) polymorphism; Insulin release; Type 2 diabetes

Indexed keywords

C PEPTIDE; GLUCOSE; INSULIN;

ADULT; ALLELE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DENMARK; DISEASE PREDISPOSITION; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENE NUMBER; GENOTYPE; HETEROZYGOTE; HUMAN; INSULIN BLOOD LEVEL; INSULIN RELEASE; INTRAVENOUS GLUCOSE TOLERANCE TEST; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; ORAL GLUCOSE TOLERANCE TEST; PARENT; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; QUANTITATIVE ANALYSIS; TANDEM REPEAT;

ADULT; ALLELES; BIRTH WEIGHT; BLOOD GLUCOSE; CASE-CONTROL STUDIES; DENMARK; DIABETES MELLITUS, TYPE 2; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; GLYCOSYLTRANSFERASES; HUMANS; INSULIN; MALE; MIDDLE AGED; MINISATELLITE REPEATS; POLYMORPHISM, GENETIC;

EID: 3142679474     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (37)

1. Bennett ST, Todd JA (1996) Human type 1 diabetes and the insulin gene: principles of mapping polygenes. Annu Rev Genet 30:343-370
2. Le Stunff C, Fallin D, Schork NJ, Bougneres P (2000) The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity. Nat Genet 26:444-446
3. Mitchell SMS, Hattersley AT, Knight B et al. (2004) 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 89:310-317
4. Lucassen AM, Screaton GR, Julier C, Elliott TJ, Lathrop M, Bell JI (1995) Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype. Hum Mol Genet 4:501-506
5. Kennedy GC, German MS, Rutter WJ (1995) The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nat Genet 9:293-298
6. Vafiadis P, Bennett ST, Colle E, Grabs R, Goodyer CG, Polychronakos C (1996) Imprinted and genotype-specific expression of genes at the IDDM2 locus in pancreas and leucocytes. J Autoimmun 9:397-403
7. Bennett ST, Lucassen AM, Gough SC et al. (1995). Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 9:284-292
8. Paquette J, Giannoukakis N, Polychronakos C, Vafiadis P, Deal C (1998) The INS 5′ variable number of tandem repeats is associated with IGF2 expression in humans. J Bio Chem 273:14158-14164
9. Waterworth DM, Bennett ST, Gharani N et al. (1997) Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet 349:986-990
10. Huxtable SJ, Saker PJ, Haddad L et al. (2000) Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles. Diabetes 49:126-130
11. Cocozza S, Riccardi G, Monticelli A et al. (1988) Polymorphism at the 5′ end flanking region of the insulin gene is associated with reduced insulin secretion in healthy individuals. Eur J Clin Invest 18:582-586
12. Dunger DB, Ong KKL, Huxtable SJ et al. (1998) Association of the INS VNTR with size at birth. Nat Genet 19:98-100
13. Lindsay RS, Hanson RL, Wiedrich C, Knowler WC, Bennett PH, Baier LJ (2003) 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 52:187-193
14. Hales CN, Barker DJP, Clark PMS et al (1991). Fetal and infant growth and impaired glucose tolerance at age 64. BMJ 303:1019-1022
15. Drivsholm T, Ibsen H, Schroll M, Davidsen M, Borch-Johnsen K (2001) Increasing prevalence of diabetes mellitus and impaired glucose tolerance among 60-year-old Danes. Diabet Med 18:126-132
16. Jørgensen T, Borch-Johnsen K, Thomsen TF, Ibsen H, Glümer C, Pisinger C (2003) A randomized non-pharmacological intervention study for prevention of ischaemic heart disease: baseline results Inter99 (1). Eur J Cardiovasc Prev Rehabil 10:377-386
17. Clausen JO, Borch-Johnsen K, Ibsen H et al. (1996) Insulin sensitivity index, acute insulin response, and glucose effectiveness in a population-based sample of 380 young healthy Caucasians. Analysis of the impact of gender, body fat, physical fitness, and life-style factors. J Clin Invest 98:1195-1209
18. Hansen T, Ambye L, Grarup N et al. (2001) Genetic variability of the SUR1 promoter in relation to beta-cell function and Type II diabetes mellitus. Diabetologia 44:1330-1334
19. Stead JDH, Hurles ME, Jeffreys AJ (2003) Global haplotype diversity in the human insulin gene region. Genome Research 13:2101-2111
20. Buetow KH, Edmonson M, MacDonald R et al. (2001) High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Proc Natl Acad Sci USA 98:581-584
21. Hitman GA, Jowett NI, Williams LG, Humphries S, Winter RM, Galton DJ (1984) Polymorphisms in the 5′-flanking region of the insulin gene and non-insulin-dependent diabetes. Clin Sci 66:383-388
22. Altshuler D, Hirschhorn JN, Klannemark M et al. (2000) The common PPAR gamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80
23. Jellema A, Zeegers MPA, Feskens EJM, Dagnelie PC, Mensink RP (2003) Gly972Arg variant in the insulin receptor substrate-1 gene and association with Type 2 diabetes: a meta-analysis of 27 studies. Diabetologia 46:990-995
24. Nielsen ED, Hansen L, Carstensen B et al. (2003) The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes 52:573-577
25. Weedon MN, Schwarz PEH, Horikawa Y et al. (2003) Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet 73:1208-1212
26. Onyango P, Jiang S, Uejima H et al. (2002) Monoallelic expression and methylation of imprinted genes in human and mouse embryonic germ cell lineages. Proc Natl Acad Sci USA 99:10599-10604
27. Deltour L, Montagutelli X, Guenet JL, Jami J, Páldi A (1995) Tissue- and developmental stage-specific imprinting of the mouse proinsulin gene, Ins2. Dev Biol 168:686-688
28. Moore GE, Abu-Amero SN, Bell G et al. (2001) Evidence that insulin is imprinted in the human yolk sac. Diabetes 50:199-203
29. Le Stunff C, Fallin D, Bougneres P (2001) Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity. Nat Genet 29:96-99
30. Permutt MA, Rotwein P, Andreone T, Ward WK, Porte D (1985) Islet beta-cell function and polymorphism in the 5′-flanking region of the human insulin gene. Diabetes 34:311-314
31. Sten-Linder M, Wedell A, Iselius L, Efendic S, Luft R, Luthman H (1993) DNA polymorphisms in the human tyrosine hydroxylase/insulin/insulin-like growth factor II chromosomal region in relation to glucose and insulin responses. Diabetologia 36:25-32
32. Owerbach D, Bell GI, Rutter WJ, Shows TB (1980) The insulin gene is located on chromosome 11 in humans. Nature 286:82-84
33. Ahmed S, Bennett ST, Huxtable SJ, Todd JA, Matthews DR, Gough SC (1999) INS VNTR allelic variation and dynamic insulin secretion in healthy adult non-diabetic Caucasian subjects. Diabet Med 16:910-917
34. Bazaes RA, Petry CJ, Ong KK, Avila A, Dunger DB, Mericq MV (2003) Insulin gene VNTR genotype is associated with insulin sensitivity and secretion in infancy. Clin Endocrinol 59:599-603
35. The DECODE study group on behalf of the European Diabetes Epidemiology Group (1999) Glucose tolerance and mortality: comparison of WHO and American Diabetes Association diagnostic criteria. Lancet 354:617-621
36. Larsson H, Berglund G, Lindgärde F, Ahrén B (1998) Comparison of ADA and WHO criteria for diagnosis of diabetes and glucose intolerance. Diabetologia 41:1124-1125
37. Shaw JE, Zimmet PZ, de Courten M et al. (1999) Impaired fasting glucose or impaired glucose tolerance: What best predicts future diabetes in Mauritius? Diabetes Care 22:399-402