The promoter polymorphism -232C/G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian population

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages 83-

  Rees, Simon D ^a   Britten, Abigail C ^a   Bellary, Srikanth ^a,b   O'Hare, J Paul ^c   Kumar, Sudhesh ^c   Barnett, Anthony H ^a,b   Kelly, M Ann ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF WARWICK   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP); PCK1 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADULT; ARTICLE; ASIAN; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PROMOTER REGION; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM; AGED; ALLELE; CASE CONTROL STUDY; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PAKISTAN;

RODENTIA;

ADULT; AGED; ALLELES; CASE-CONTROL STUDIES; DIABETES MELLITUS, TYPE 2; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GREAT BRITAIN; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; PAKISTAN; PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP); POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

EID: 70349332648     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-83     Document Type: Article

References (18)

1. Valera A, Pujol A, Pelegrin M, Bosch F. Transgenic mice overexpressing phosphoenolpyruvate carboxykinase develop non-insulin-dependent diabetes mellitus. Proc Natl Acad Sci USA 1994, 91:9151-9154. 10.1073/pnas.91.19.9151, 44765, 8090784.
2. Hani EH, Zouali H, Philippi A, Beaudoin JC, Vionnet N, Passa P, Demenais F, Froguel P. Indication for genetic linkage of the phosphoenolpyruvate carboxykinase (PCK1) gene region on chromosome 20q to non-insulin-dependent diabetes mellitus. Diabetes Metab 1996, 22:451-454.
3. Zouali H, Hani EH, Philippi A, Vionnet N, Beckmann JS, Demenais F, Froguel P. A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene. Hum Mol Genet 1997, 6:1401-1408. 10.1093/hmg/6.9.1401, 9285775.
4. Cao H, van der Veer E, Ban MR, Hanley AJ, Zinman B, Harris SB, Young TK, Pickering JG, Hegele RA. Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus. J Clin Endocrinol Metab 2004, 89:898-903. 10.1210/jc.2003-031361, 14764811.
5. Shin HD, Park BL, Kim LH, Cheong HS, Kim JH, Cho YM, Lee HK, Park KS. Association of a polymorphism in the gene encoding phosphoenolpyruvate carboxykinase 1 with high-density lipoprotein and triglyceride levels. Diabetologia 2005, 48:2025-2032. 10.1007/s00125-005-1917-x, 16132948.
6. Willer CJ, Bonnycastle LL, Conneely KN, Duren WL, Jackson AU, Scott LJ, Narisu N, Chines PS, Skol A, Stringham HM. Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes. Diabetes 2007, 56:256-264. 10.2337/db06-0461, 17192490.
7. Dong Y, Zhang H, Wang X, Feng Q, Chen X, Su Q. A Leu184Val polymorphism in PCK1 gene is associated with type 2 diabetes in Eastern Chinese population with BMI<23 kg/m2. Diabetes Res Clin Pract 2009, 83:227-232. 10.1016/j.diabres.2008.10.011, 19070910.
8. Gouni-Berthold I, Giannakidou E, Faust M, Berthold HK, Krone W. Association of the promoter polymorphism -232C/G of the phosphoenolpyruvate carboxykinase gene (PCK1) with Type 2 diabetes mellitus. Diabet Med 2006, 23:419-425. 10.1111/j.1464-5491.2006.01819.x, 16620271.
9. Wegner L, Andersen G, Albrechtsen A, Sparso T, Glumer C, Borch-Johnsen K, Jorgensen T, Hansen T, Pedersen O. Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes. Diabet Med 2006, 23:1140-1144. 10.1111/j.1464-5491.2006.01926.x, 16978381.
10. Barnett AH, Dixon AN, Bellary S, Hanif MW, O'Hare JP, Raymond NT, Kumar S. Type 2 diabetes and cardiovascular risk in the UK south Asian community. Diabetologia 2006, 49:2234-2246. 10.1007/s00125-006-0325-1, 16847701.
11. Bellary S, O'Hare JP, Raymond NT, Gumber A, Mughal S, Szczepura A, Kumar S, Barnett AH. Enhanced diabetes care to patients of south Asian ethnic origin (the United Kingdom Asian Diabetes Study): a cluster randomised controlled trial. Lancet 2008, 371:1769-1776. 10.1016/S0140-6736(08)60764-3, 18502301.
12. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265. 10.1093/bioinformatics/bth457, 15297300.
13. The International HapMap Consortium The International HapMap Project. Nature 2003, 426:789-796. 10.1038/nature02168, 14685227.
14. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003, 19:149-150. 10.1093/bioinformatics/19.1.149, 12499305.
15. Rees SD, Bellary S, Britten AC, O'Hare JP, Kumar S, Barnett AH, Kelly MA. Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population. BMC Med Genet 2008, 9:8. 10.1186/1471-2350-9-8, 2276194, 18291022.
16. Beale EG, Hammer RE, Antoine B, Forest C. Disregulated glyceroneogenesis: PCK1 as a candidate diabetes and obesity gene. Trends Endocrinol Metab 2004, 15:129-135. 10.1016/j.tem.2004.02.006, 15046742.
17. Gomez-Valades AG, Mendez-Lucas A, Vidal-Alabro A, Blasco FX, Chillon M, Bartrons R, Bermudez J, Perales JC. Pck1 gene silencing in the liver improves glycemia control, insulin sensitivity, and dyslipidemia in db/db mice. Diabetes 2008, 57:2199-2210. 10.2337/db07-1087, 2494684, 18443203.
18. Voight BF, Pritchard JK. Confounding from cryptic relatedness in case-control association studies. PLoS Genet 2005, 1:e32. 10.1371/journal.pgen.0010032, 1200427,1200427, 16151517.