A common haplotype of the glucokinase gene alters fasting glucose and birth weight: Association in six studies and population-genetics analyses

American Journal of Human Genetics

Volumn 79, Issue 6, 2006, Pages 991-1001

  Weedon, Michael N ^a   Clark, Vanessa J ^b   Qian, Yudong ^b   Ben Shlomo, Yoav ^c   Timpson, Nicholas ^c   Ebrahim, Shah ^d   Lawlor, Debbie A ^c   Pembrey, Marcus E ^c   Ring, Susan ^c   Wilkin, Terry J ^a   Voss, Linda D ^a   Jeffery, Alison N ^a   Metcalf, Brad ^a   Ferrucci, Luigi ^e   Corsi, Anna Maria ^f   Murray, Anna ^a   Melzer, David ^a   Knight, Bridget ^a   Shields, Bev ^a   Smith, George Davey ^c   Hattersley, Andrew T ^a   Di Rienzo, Anna ^b   Frayling, Tim M ^a   more..

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY OF CHICAGO   (United States)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

^d LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^e NATIONAL INSTITUTE ON AGING   (United States)

^f National Institute of Research and Care on Aging   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOKINASE; GLUCOSE;

ADULT; AGED; ALLELE; ARTICLE; BIRTH WEIGHT; CHILD; CORRELATIONAL STUDY; DIET RESTRICTION; FEMALE; FETUS GROWTH; FOOD INTAKE; GENE; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOMICS; GLUCOKINASE GENE; GLUCOSE BLOOD LEVEL; HAPLOTYPE; HUMAN; HYPERGLYCEMIA; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; NEWBORN; NON INSULIN DEPENDENT DIABETES MELLITUS; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; TAGGING SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 33845220776     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/509517     Document Type: Article

References (55)

1. dbSNP, http://www.ncbi.nlm.nih.gov/SNP/
2. Haplotter, http://hg-wen.uchicago.edu/selection/haplotter.htm
3. HKA, http://genapps.uchicago.edu/hka/index.html
4. Kbioscience, http://www.kbioscience.co.uk/
5. MAXDIP, http://genapps.uchicago.edu/maxdip/index.html
6. mVista, http://genome.lbl.gov/vista/
7. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/ Omim/ (for GCK and MODY)
8. SLIDER, http://genapps.uchicago.edu/slider/index.html
9. Bjornholt J, Erikssen G, Aaser E, Sandvik L, Nitter-Hauge S, Jervell J, Erikssen J, Thaulow E (1999) Fasting blood glucose: an underestimated risk factor for cardiovascular death: results from a 22-year follow-up of healthy nondiabetic men. Diabetes Care 22:45-49
10. Bjornholt J, Erikssen G, Liestol K, Erikssen J, Thaulow E (2001) Prediction of type 2 diabetes in healthy middle-aged men with special emphasis on glucose homeostasis: results from 22.5 years' follow-up. Diabet Med 18:261-267
11. Charles MA, Fontbonne A, Thibult N, Warnet JM, Rosselin GE, Eschwege E (1991) Risk factors for NIDDM in white population: Paris prospective study. Diabetes 40:796-799
12. Farmer G, Russell G, Hamilton-Nicol DR, Ogenbede HO, Ross IS, Pearson DW, Thom H, Kerridge DF, Sutherland HW (1988) The influence of maternal glucose metabolism on fetal growth, development and morbidity in 917 singleton pregnancies in nondiabetic women. Diabetologia 31:134-141
13. Breschi MC, Seghieri G, Bartolomei G, Gironi A, Baldi S, Ferrannini E (1993) Relation of birthweight to maternal plasma glucose and insulin concentrations during normal pregnancy. Diabetologia 36:1315-1321
14. Mills GW, Avery PJ, McCarthy MI, Hattersley AT, Levy JC, Hitman GA, Sampson M, Walker M (2004) Heritability estimates for beta cell function and features of the insulin resistance syndrome in UK families with an increased susceptibility to type 2 diabetes. Diabetologia 47:732-738
15. Freeman MS, Mansfield MW, Barrett JH, Grant PJ (2002) Heritability of features of the insulin resistance syndrome in a community-based study of healthy families. Diabet Med 19:994-999
16. Snieder H, Boomsma D, van Doornen LJ, Neale MC (1999) Bivariate genetic analysis of fasting insulin and glucose levels. Genet Epidemiol 16:426-426
17. Matschinsky FM (1990) Glucokinase as glucose sensor and metabolic signal generator in pancreatic β-cell and hepatocytes. Diabetes 30:647-752
18. Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell Gl, Zouali H, Lesage S, Velho G, Iris F, Passa PH, Froguel PH, Cohen D (1992) Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356:721-722
19. Froguel P, Vaxillaire M, Sun F, Velho G, Zouali H, Butel MO, Lesage S, Vionnet N, Clement K, Fougerousse F, Tanizawa Y, Weissenbach J, Beckmann JS, Lathrop GM, Passa P, Permutt MA, Cohen D (1992) Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356:162-164
20. Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins PJ, Wainscoat JS (1992) Linkage of type 2 diabetes to the glucokinase gene. Lancet 339:1307-1310
21. Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njolstad PR, Hansen T, Costa A, Conget I, Pedersen O, Sovik O, Lorini R, Groop L, Froguel P, Hattersley AT (2002) The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 45:427-435
22. Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S (1998) Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet 19:268-270
23. Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, Smith GD, Ring S, Jones R, Golding J, Byberg L, Mann V, Axelsson T, Syvanen AC, Leon D, Hattersley AT (2005) Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes 54:576-581
24. de Bakker PIW, Yelensky R, Pe'er l, Gabriel SB, Daly MJ, Altshuler D (2005) Efficiency and power in genetic association studies. Nat Genet 37:1217-1223
25. Knight B, Shields BM, Turner M, Powell RJ, Yajnik CS, Hattersley AT (2005) Evidence of genetic regulation of fetal longitudinal growth. Early Hum Dev 81:823-831
26. Knight B, Shields BM, Hattersley AT (2006) The Exeter Family Study of Childhood Health (EFSOCH): study protocol and methodology. Paediatr Perinat Epidemiol 20:172-179
27. Wilkin TJ, Voss LD, Metcalf BS, Mallam K, Jeffery AN, Alba S, Murphy MJ (2004) Metabolic risk in early childhood: the EarlyBird Study. Int J Obes Relat Metab Disord Suppl 28:S64-S69
28. Frayling TM, Hattersley AT, McCarthy A, Holly J, Mitchell SM, Gloyn AL, Owen K, Davies; D, Davey-Smith G, Ben-Shlomo Y (2002) A putative functional polymorphism in the IGF-1 gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in UK populations. Diabetes 51:2313-2316
29. Lawlor DA, Bedford C, Taylor M, Ebrahim S (2003) Geographical variation in cardiovascular disease, risk factors, and their control in older women: British Women's Heart and Health Study. J Epidemiol Community Health 57:134-140
30. Trinder P (1969) Determination of blood glucose using 4-amino phenazone as oxygen acceptor. J Clin Pathol 22:246
31. Dudbridge F (2003) Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25:115-121
32. Gauderman WJ (2002) Sample size requirements for association studies of gene-gene interaction. Am J Epidemiol 155:478-484
33. Frisse L, Hudson RR, Bartoszewicz A, Wall JD, Donfack J, Di Rienzo A (2001) Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels. Am J Hum Genet 69:831-843
34. Voight BF, Adams AM, Frisse LA, Qian YD, Hudson RR, Di Rienzo A (2005) Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. Proc Natl Acad Sci USA 102:18508-18513
35. Vander Molen J, Frisse LM, Fullerton SM, Qian Y, del Bosque-Plata L, Hudson RR, Di Rienzo A (2005) Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variants. Am J Hum Genet 76:548-560
36. Lincoln SE, Daly MJ, Lander ES (1991) PRIMER: a computer program for automatically selecting PCR primers, release 0.5, Cambridge, MA
37. Nickerson DA, Tobe VO, Taylor SL (1997) PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 25:2745-2751
38. Hudson RR (2001) Two-locus sampling distributions and their application. Genetics 159:1805-1817
39. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
40. Hudson RR, Bailey K, Skarecky D, Kwiatowski J, Ayala FJ (1994) Evidence for positive selection in the superoxide dismutase (Sod) region of Drosophila melanogaster. Genetics 136:1329-1340
41. Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585-595
42. Akey JM, Eberle MA, Rieder MJ, Carlson CS, Shriver MD, Nickerson DA, Kruglyak L (2004) Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol 2:E286
43. Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325:31-36
44. Nachman MW, Bauer VL, Crowell SL, Aquadro CF (1998) DNA variability and recombination rates at X-linked loci in humans. Genetics 150:1133-1141
45. Stephens JC, Schneider JA, Tanguay DA, Choi J, Acharya T, Stanley SE, Jiang R, et al (2001) Haplotype variation and linkage disequilibrium in 313 human genes. Science 293:489-493 (erratum 293:1048)
46. Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AC (1991) African populations and the evolution of human mitochondrial DNA. Science 253:1503-1507
47. Nachman MW (2001) Single nucleotide polymorphisms and recombination rate in humans. Trends Genet 17:481-485
48. Hudson RR, Kreitman M, Aguade M (1987) A test of neutral molecular evolution based on nucleotide data. Genetics 116:153-159
49. Voight BF, Kudaravalli S, Wen X, Pritchard JK (2006) A map of recent positive selection in the human genome. PLoS Biol 4:e72
50. The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437:1299-1320
51. Wells JCK, Cole TJ (2002) Birth weight and environmental heat load: a between-population analysis. Am J Phys Anthropol 119:276-282
52. Thompson EE, Kuttab-Boulos H, Witonsky D, Yang L, Roe BA, Di Rienzo A (2004) CYP3A variation and the evolution of salt-sensitivity variants. Am J Hum Genet 75:1059-1069
53. Rose CS, Ek J, Urhammer SA, Glumer C, Borch-Johnsen K, Jorgensen T, Pedersen O, Hansen T (2005) A -30G→A polymorphism of the β-cell-specific glucokinase promoter associates with hyperglycemia in the general population of whites. Diabetes 54:3026-3031
54. Marz W, Nauck M, Hoffmann MM, Nagel D, Boehm BO, Koenig W, Rothenbacher D, Winkelmann BR (2004) G(-30)A polymorphism in the pancreatic promoter of the glucokinase gene associated with angiographic coronary artery disease and type 2 diabetes mellitus. Circulation 109:2844-2849
55. Terwilliger JD, Hiekkalinna T (2006) An utter refutation of the "Fundamental Theorem of the HapMap." Eur J Hum Genet 14:426-437