Heterogeneous effect of peroxisome proliferator-activated receptor γ2 Ala12 variant on Type 2 diabetes risk

Obesity

Volumn 15, Issue 5, 2007, Pages 1076-1081

  Ludovico, Ornella ^a   Pellegrini, Fabio ^b   Di Paola, Rosa ^a   Minenna, Antonio ^a   Mastroianno, Sandra ^a   Cardellini, Marina ^c   Marini, Maria Adelaide ^c   Andreozzi, Francesco ^d   Vaccaro, Olga ^e   Sesti, Giorgio ^c,d   Trischitta, Vincenzo ^a,f  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b Consorzio Mario Negri Sud ^*  (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Candidate genes; Genetic susceptibility; Peroxisome proliferator activated receptor; Type 2 diabetes

Indexed keywords

PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA;

AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; CLINICAL TRIAL; CONFIDENCE INTERVAL; DIABETES MELLITUS; DIET; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; HUMAN; META ANALYSIS; NON INSULIN DEPENDENT DIABETES MELLITUS; REFERENCE VALUE; RISK ASSESSMENT;

AMINO ACID SUBSTITUTION; CONFIDENCE INTERVALS; DIABETES MELLITUS; DIABETES MELLITUS, TYPE 2; DIET; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PPAR GAMMA; REFERENCE VALUES; RISK ASSESSMENT; VARIATION (GENETICS);

EID: 34250631631     PISSN: 19307381     EISSN: 1930739X     Source Type: Journal    
DOI: 10.1038/oby.2007.617     Document Type: Article

References (47)

1. Stumvoll M, Haring H. The peroxisome proliferator-activated receptor-gamma2 Pro12Ala polymorphism. Diabetes. 2002;51:2341-7.
2. Yen CJ, Beamer BA, Negri C, et al. Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation. Biochem Biophys Res Commun. 1997;241:270-4.
3. Deeb SS, Fajas L, Nemoto M, et al. A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat Genet. 1998;20:284-7.
4. Hara K, Okada T, Tobe K, et al. The Pro12Ala polymorphism in PPAR gamma2 may confer resistance to type 2 diabetes. Biochem Biophys Res Commun. 2000;271:212-6.
5. Morl H, Ikegami H, Kawaguchi Y, et al. The Pro12 ->Ala substitution in PPAR-gamma is associated with resistance to development of diabetes in the general population: possible involvement in impairment of insulin secretion in individuals with type 2 diabetes. Diabetes. 2001;50:891-4.
6. Altshuler D, Hirschhorn JN, Klannemark M, et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet. 2000;26:76-80.
7. Douglas JA, Erdos MR, Watanabe RM, et al. The peroxisome proliferator-activated receptor-gamma2 Pro12Ala variant: association with type 2 diabetes and trait differences. Diabetes. 2001;50:886-90.
8. Poulsen P, Andersen G, Fenger M, et al. Impact of two common polymorphisms in the PPARgamma gene on glucose tolerance and plasma insulin profiles in monozygotic and dizygotic twins: thrifty genotype, thrifty phenotype, or both? Diabetes. 2003;52:194-8.
9. Doney AS, Fischer B, Cecil JE, et al. Association of the Pro12 Ala and C1431T variants of PPARG and their haplotypes with susceptibility to Type 2 diabetes. Diabetologia. 2004;47:555-8.
10. Ardlie KG, Lunetta KL, Seielstad M. Testing for population subdivision and association in four case-control studies. Am J Hum Genet. 2002;71:304-11.
11. Zeggini E, Parkinson JR, Halford S, et al. Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples. Diabet Med. 2005;22:1696-700.
12. Oh EY, Min KM, Chung JH, et al. Significance of Pro12Ala mutation in peroxisome proliferator-activated receptor-gamma2 in Korean diabetic and obese subjects. J Clin Endocrinol Metab. 2000;85:1801-4.
13. Lei HH, Chen MH, Yang WS, et al. Peroxisome proliferator-activated receptor gamma 2 Pro12Ala gene variant is strongly associated with larger body mass in the Taiwanese. Metabolism. 2000;49:1267-70.
14. Nemoto M, Sasaki T, Deeb SS, Fujimoto WY, Tajima N. Differential effect of PPARgamma2 variants in the development of type 2 diabetes between native Japanese and Japanese Americans. Diabetes Res Clin Pract. 2002;57:131-7.
15. Tal ES, Corella D, Deurenberg-Yap M, et al. Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasma lipids and diabetes risk in an Asian population. J Lipid Res. 2004;45:674-85.
16. Horiki M, Ikegami H, Fujisawa T, et al. Association of Pro12Ala polymorphism of PPARgamma gene with insulin resistance and related diseases. Diabetes Res Clin Pract. 2004;66(Suppl 1):63-7.
17. Ek J, Andersen G, Urhammer SA, et al. Mutation analysis of peroxisome proliferator-activated receptor-gamma coactivator-1 (PGC-1) and relationships of identified amino acid polymorphisms to Type II diabetes mellitus. Diabetologia. 2001;44:2220-6.
18. Niskanen L, Lindi V, Erkkila A, et al. Association of the PRO12ALA polymorphism of the PPAR-gamma2 gene with oxidized low-density lipoprotein and cardiolipin autoantibodies in nondiabetic and type 2 diabetic subjects. Metabolism. 2003;52:213-7.
19. Barroso I, Luan J, Middelberg RP, et al. Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. PLoS Biol. 2003;1:E20.
20. Ringel J, Engeli S, Distler A, Sharma AM. Pro12Ala missense mutation of the peroxisome proliferator activated receptor gamma and diabetes mellitus. Biochem Biophys Res Commun. 1999;254:450-3.
21. Meirhaeghe A, Fajas L, Helbecque N, et al. Impact of the peroxisome proliferator activated receptor gamma2 Pro12Ala polymorphism on adiposity, lipids and non-insulin-dependent diabetes mellitus. Int J Obes Relat Metab Disord. 2000;24:195-9.
22. Clement K, Hercberg S, Passinge B, et al. The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabetes. Int J Obes Relat Metab Disord. 2000;24:391-3.
23. Schaffler A, Barth N, Schmitz G, Zietz B, Palitzsch KD, Scholmerich J. Frequency and significance of Pro12Ala and Pro115Gln polymorphism in gene for peroxisome proliferation-activated receptor-gamma regarding metabolic parameters in a Caucasian cohort. Endocrine. 2001;14:369-73.
24. Evans D, de Heer J, Hagemann C, et al. Association between the P12A and c1431t polymorphisms in the peroxisome proliferator activated receptor gamma (PPAR gamma) gene and type 2 diabetes. Exp Clin Endocrinol Diabetes. 2001;109:151-4.
25. Sramkova D, Kunesova M, Halner V, Hill M, Vcelak J, Bendlova B. Is a Pro12Ala polymorphism of the PPARgamma2 gene related to obesity and type 2 diabetes mellitus in the Czech population? Ann NY Acad Sci. 2002;967:265-73.
26. Malecki MT, Frey J, Klupa T, et al. The Pro12Ala polymorphism of PPARgamma2 gene and susceptibility to type 2 diabetes mellitus in a Polish population. Diabetes Res Clin Pract. 2003;62:105-11.
27. Pinterova D, Cerna M, Kolostova K, et al. The frequency of alleles of the Pro12Ala polymorphism in PPARgamma2 is different between healthy controls and patients with type 2 diabetes. Folia Biol (Praha). 2004;50:153-6.
28. Ghoussaini M, Meyre D, Lobbens S, et al. Implication of the Pro12Ala polymorphism of the PPAR-gamma 2 gene in type 2 diabetes and obesity in the French population. BMC Med Genet. 2005;6:11.
29. Hansen SK, Nielsen EM, Ek J, et al. Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes. J Clin Endocrinol Metab. 2005;90:3629-37.
30. Mancini FP, Vaccaro O, Sabatino L, et al. Pro12Ala substitution in the peroxisome proliferator-activated receptor-gamma2 is not associated with type 2 diabetes. Diabetes. 1999;48:1466-8.
31. Simon I, Vendrell J, Gutierrez C, et al. Pro12Ala substitution in the peroxisome proliferator-activated receptor-gamma is associated with increased leptin levels in women with type-2 diabetes mellitus. Horm Res. 2002;58:143-9.
32. Hegele RA, Cao H, Harris SB, Zinman B, Hanley AJ, Anderson CM. Peroxisome proliferator-activated receptor-gamma2 P12A and type 2 diabetes in Canadian Oji-Cree. J Clin Endocrinol Metab. 2000;85:2014-9.
33. Li WD, Lee JH, Price RA. The peroxisome proliferator-activated receptor gamma 2 Pro12Ala mutation is associated with early onset extreme obesity and reduced fasting glucose. Mol Genet Metab. 2000;70:159-61.
34. Hasstedt SJ, Ren QF, Teng K, Elbein SC. Effect of the peroxisome proliferator-activated receptor-gamma 2 pro(12)ala variant on obesity, glucose homeostasis, and blood pressure in members of familial type 2 diabetic kindreds. J Clin Endocrinol Metab. 2001;86:536-41.
35. Kao WH, Coresh J, Shuldiner AR, Boerwinkle E, Bray MS, Brancati FL. Pro12Ala of the peroxisome proliferator-activated receptor-gamma2 gene is associated with lower serum insulin levels in nonobese African Americans: the Atherosclerosis Risk in Communities Study. Diabetes. 2003;52:1568-72.
36. Muller YL, Bogardus C, Beamer BA, Shuldiner AR, Baier LJ. A functional variant in the peroxisome proliferator-activated receptor gamma2 promoter is associated with predictors of obesity and type 2 diabetes in Pima Indians. Diabetes. 2003;52:1864-71.
37. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet. 2003;33:177-82.
38. Parikh H, Groop L. Candidate genes for type 2 diabetes. Rev Endocr Metab Disord. 2004;5:151-76.
39. Florez JC, Jablonski KA, Sun MW, et al. Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone. J Clin Endocrinol Metab. 2007;92:1502-9.
40. Stumvoll M, Haring H. Reduced lipolysis as possible cause for greater weight gain in subjects with the Pro12Ala polymorphism in PPARgamma2? Diabetologia. 2002;45:152-3.
41. Pisabarro RE, Sanguinetti C, Stoll M, Prendez D. High incidence of type 2 diabetes in peroxisome proliferator-activated receptor gamma2 Pro12Ala carriers exposed to a high chronic intake of trans fatty acids and saturated fatty acids. Diabetes Care. 2004;27:2251-2.
42. Bulotta A, Ludovico O, Coco A, et al. The common-866G/A polymorphism in the promoter region of the UCP-2 gene is associated with reduced risk of type 2 diabetes in Caucasians from Italy. J Clin Endocrinol Metab. 2005;90:1176-80.
43. Stroup DF, Berlin JA, Morton SC, et al. Meta-analysis of observational studies in epidemiology: a proposal for reporting: meta-analysis Of Observational Studies in Epidemiology (MOOSE) group. JAMA. 2000;283:2008-12.
44. Higgins JP, Thompson SG. Controlling the risk of spurious findings from meta-regression. Stat Med. 2004;23:1663-82.
45. Scarpelli D, Cardellini M, Andreozzi F, et al. Variants of the interleukin-10 promoter gene are associated with obesity and insulin resistance but not type 2 diabetes in Caucasian Italian subjects. Diabetes. 2006;55:1529-33.
46. Baratta R, Di Paola R, Spampinato D, et al. Evidence for genetic epistasis in human insulin resistance: the combined effect of PC-1 (K121Q) and PPARgamma2 (P12A) polymorphisms. J Mol Med. 2003;81:718-23.
47. van Houwelingen HC, Arends LR, Stijnen T. Advanced methods in meta-analysis: multivariate approach and meta-regression. Stat Med. 2002;21:589-624.