Effect of ENPP1/PC-1-K121Q and PPARγ-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population

Diabetes Research and Clinical Practice

Volumn 81, Issue 3, 2008, Pages 278-283

  Bouhaha, R ^a   Meyre, D ^c   Kamoun, H Abid ^b   Ennafaa, H ^a   Vaillant, E ^c   Sassi, R ^a   Baroudi, T ^a   Vatin, V ^c   Froguel, P ^c,d   Elgaaied, A ^a   Vaxillaire, M ^c  

^a FACULTÉ DES SCIENCES DE TUNIS   (Tunisia)

^b CHARLES NICOLLE HOSPITAL   (Tunisia)

^c Institut Pasteur de Lille   (France)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Diabetes; ENPP1; Overweight; PPAR ; Tunisians

Indexed keywords

INORGANIC PYROPHOSPHATASE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PROTEIN ENPP1; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; BODY MASS; COHORT ANALYSIS; CONTROLLED STUDY; DEMOGRAPHY; DISEASE PREDISPOSITION; FEMALE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; RISK FACTOR; TUNISIA;

ADULT; AMINO ACID SUBSTITUTION; BODY MASS INDEX; DIABETES MELLITUS, TYPE 2; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PHOSPHORIC DIESTER HYDROLASES; POLYMORPHISM, SINGLE NUCLEOTIDE; PPAR GAMMA; PYROPHOSPHATASES; REFERENCE VALUES; TUNISIA;

EID: 48949088059     PISSN: 01688227     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.diabres.2008.06.004     Document Type: Article

References (49)

1. Zimmet P., Alberti K.G., and Shaw J. Global and societal implications of the diabetes epidemic. Nature 414 (2001) 782-787
2. Bouguerra R., Alberti H., Salem L.B., Rayana C.B., Atti J.E., Gaigi S., et al. The global diabetes pandemic: the Tunisian experience. Eur. J. Clin. Nutr. 61 (2007) 160-165
3. Nolan J.J., O'Halloran D., McKenna T.J., Firth R., and Redmond S. The cost of treating T2D (CODEIRE). Ir Med J 100 (2006) 307-310
4. Altshuler D., Hirschhorn J.N., Klannemark M., Lindgren C.M., Vohl M.C., Nemesh J., et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of T2D. Nat Genet 26 (2000) 76-80
5. Tönjes A., Scholz M., Loeffler M., and Stumvoll M. Association of Pro12Ala polymorphism in peroxisome proliferator-activated receptor γ with pre-diabetic phenotypes. meta-analysis of 57 studies on nondiabetic individuals. Diabetes Care 29 (2006) 2489-2497
6. Ludovico O., Pellegrini F., Di Paola R., Minenna A., Mastroianno S., Cardellini M., et al. Heterogeneous effect of peroxisome proliferator-activated receptor gamma2 Ala12 variant on type 2 diabetes risk. Obesity (Silver Spring) 15 (2007) 1076-1081
7. Gloyn A.L., Weedon M.N., Owen K.R., Turner M.J., Knight B.A., Hitman G., et al. Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with T2D. Diabetes 52 (2003) 568-572
8. Tsuchiya T., Schwarz P.E., Bosque-Plata L.D., Geoffrey Hayes M., Dina C., Froguel P., et al. Association of the calpain-10 gene with T2D in Europeans: results of pooled and meta-analyses. Mol Genet Metab 89 (2006) 174-184
9. Cauchi S., El Achhab Y., Choquet H., Dina C., Krempler F., Weitgasser R., et al. TCF7L2 is reproducibly associated with T2D in various ethnic groups: a global meta-analysis. J Mol Med 85 (2007) 777-782
10. Sandhu M.S., Weedon M.N., Fawcett K.A., Wasson J., Debenham S.L., Daly A., et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet 39 (2007) 951-953
11. Horikoshi M., Hara K., Ito C., Shojima N., Nagai R., Ueki K., et al. Variations in the HHEX gene are associated with increased risk of T2D in the Japanese population. Diabetologia 50 (2007) 2461-2466
12. Sladek R., Rocheleau G., Rung J., Dina C., and Shen L. A genome-wide association study identifies novel risk loci for T2D. Nature 445 (2007) 881-885
13. Frystyk J., Skjaerbaek C., Vestbo E., Fisker S., and Orskov H. Circulating levels of free insulin-like growth factors in obese subjects: the impact of T2D. Diabetes Metab Res Rev 15 (1999) 314-322
14. Steinthorsdottir V., Thorleifsson G., Reynisdottir I., Benediktsson R., Jonsdottir T., Walters G.B., et al. A variant in CDKAL1 influences insulin response and risk of T2D. Nat Genet 39 (2007) 770-775
15. Pascoe L., Tura A., Patel S.K., Ibrahim I.M., Ferrannini E., Zeggini E., et al. RISC Consortium; U.K. T2D Genetics Consortium, Common variants of the novel T2D genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function. Diabetes 56 (2007) 3101-3104
16. Gudmundsson J., Sulem P., Steinthorsdottir V., Bergthorsson J.T., Thorleifsson G., Manolescu A., et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 39 (2007) 977-983
17. Vasseur F., Meyre D., Froguel P., and Adiponectin. T2D and the metabolic syndrome: lessons from human genetic studies. Expert Rev Mol Med 27 (2006) 1-12
18. Ellard S., and Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 27 (2006) 854-869
19. Bonnycastle L.L., Willer C.J., and Conneely K.N. Common variants in maturity-onset diabetes of the young genes contribute to risk of T2D in Finns. Diabetes 55 (2006) 2534-2540
20. Winckler W., Weedon M.N., Graham R.R., McCarroll S.A., Purcell S., Almgren P., et al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with T2D. Diabetes 56 (2007) 685-693
21. Grarup N., Urhammer S.A., Ek J., Albrechtsen A., Glumer C., Borch-Johnsen K., et al. Studies of the relationship between the ENPP1 K121Q polymorphism and T2D, insulin resistance and obesity in 7,333 Danish white subjects. Diabetologia 49 (2006) 2097-2104
22. Vasseur F., Helbecque N., Lobbens S., Vasseur-Delannoy V., Dina C., Clément K., et al. Hypoadiponectinaemia and high risk of type 2 diabetes are associated with adiponectin-encoding (ACDC) gene promoter variants in morbid obesity: evidence for a role of ACDC in diabesity. Diabetologia 48 (2005) 892-899
23. Cauchi S., Meyre D., Choquet H., Dina C., Born C., Marre M., et al., DESIR Study Group. TCF7L2 variation predicts hyperglycemia incidence in a French general population: the data from an epidemiological study on the Insulin Resistance Syndrome (DESIR) study. Diabetes 55 (2006) 3189-3192 (Erratum in: Diabetes 55 (2006) 3635)
24. Ghoussaini M., Meyre D., Lobbens S., Charpentier G., Clément K., Charles M.-A., et al. Implication of the Pro12Ala polymorphism of the PPAR-gamma 2 gene in T2D and obesity in the French population. BMC Medical Genetics (2005) 6-11
25. Meyre D., Bouatia-Naji N., Tounian A., Samson C., Lecoeur C., Vatin V., et al. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Nat Genet 37 (2005) 863-867
26. Abate N., Chandalia M., Satija P., Adams-Huet B., Grundy S.M., Sandeep S., et al. ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to Type 2 diabetes. Diabetes 54 (2005) 1207-1213
27. Radha V., Vimaleswaran K.S., Babu H.N., Abate N., Chandalia M., Satija P., et al. Role of genetic polymorphism peroxisome proliferator-activated receptor-gamma2 Pro12Ala on ethnic susceptibility to diabetes in South-Asian and Caucasian subjects: evidence for heterogeneity. Diabetes Care 29 (2006) 1046-1051
28. Zouari Bouassida K., Chouchane L., Jellouli K., Cherif S., Haddad S., Gabbouj S., and Danguir J. The peroxisome proliferator activated receptorgamma2 (PPARgamma2) Pro12Ala variant: lack of association with T2D in obese and non obese Tunisian patients. Diabetes Metab 31 (2005) 119-123
29. Heesen M., Wessiepe M., Kunz D., Vasickova K., and Blomeke B. Rapid and reliable genotyping for the Toll-like receptor 4 A896G polymorphism using fluorescence-labeled hybridization probes in a real-time polymerase chain reaction assay. Clin Chim Acta 333 (2003) 47-49
30. McAteer J.B., Prudente S., Bacci S., Lyon H.N., Hirschhorn J.N., Trischitta V., et al. The ENPP1 K121Q polymorphism is associated with type2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subject. Diabetes 10 (2007) 1125-1130
31. Bochenski J., Placha G., Wanic K., Malecki M., Sieradzki J., Warram J., et al. New polymorphism of ENPP1 (PC-1) is associated with increased risk of T2D among obese individuals. Diabetes 55 (2006) 2626-2630
32. Matsuoka N., Patki A., Tiwari H.K., Allison D.B., Johnson S.B., Gregersen P.K., et al. Association of K121Q polymorphism in ENPP1 (PC-1) with BMI in Caucasian and African-American adults. Int J Obes 30 (2006) 233-237
33. Chandalia M., Grundy S.M., Adams-Huet B., and Abate N. Ethnic differences in the frequency of ENPP1/PC1 121Q genetic variant in the Dallas Heart Study cohort. J Diabetes Complications 21 (2007) 143-148
34. Prudente S., Chandalia M., Morini E., Baratta R., Dallapiccola B., Abate N., et al. The Q121/Q121 genotype of ENPP1/PC-1 is associated with lower BMI in non-diabetic whites. Obesity (Silver Spring) 15 (2007) 1-4
35. Keshavarz P., Inoue H., Sakamoto Y., Kunika K., Tanahashi T., Nakamura N., et al. No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population. J Hum Genet 51 (2006) 559-566
36. Chen M.P., Chung F.M., Chang D.M., Tsai J.C., Huang H.F., Shin S.J., et al. ENPP1 K121Q polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese population. Rev Diabet Stud 3 (2006) 21-30
37. Morrison J.A., Gruppo R., Glueck C.J., Stroop D., Fontaine R.N., Wang P., et al. Population-specific alleles: the polymorphism (K121Q) of the human glycoprotein PC-1 gene is strongly associated with race but not with insulin resistance in black and white children. Metabolism 53 (2004) 465-468
38. Kubaszek A., Pihlajamäki J., Karhapää P., Vauhkonen I., and Laakso M. The K121Q polymorphism of the PC-1 gene is associated with insulin resistance but not with dyslipidemia. Diabetes Care 26 (2003) 464-467
39. Pizzuti A., Frittitta L., Argiolas A., Baratta R., Goldfine I.D., Bozzali M., et al. A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance. Diabetes 48 (1999) 1881-1884
40. Keene K.L., Mychaleckyj J.C., Smith S.G., Leak T.S., Perlegas P.S., Langefeld C.D., et al. Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy. Diabetes 57 (2008) 1057-1062
41. Hamaguchi K., Terao H., Kusuda Y., Yamashita T., Hazoury Bahles J.A., Cruz L.L. M., et al. The PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic and is associated with type 2 diabetes. J Clin Endocrinol Metab 89 (2004) 1359-1364
42. Santander A.F., Kandil M., Luna F., and Moral P. Twenty nuclear DNA polymorphisms in a Moroccan population: a comparison with seven other human populations. Hum Biol 74 (2002) 695-706
43. Doney A.S., Fischer B., Cecil J.E., Boylan K., McGuigan E.F., Ralston S.H., et al. Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes with susceptibility to Type 2 diabetes. Diabetologia 47 (2004) 555-558
44. Ardlie K.G., Lunetta K.L., and Seielstad M. Testing for population subdivision and association in four case-control studies. Am J Hum Genet 71 (2002) 304-311
45. Zeggini E., Parkinson J.R., Halford S., Owen K.R., Walker M., Hitman G.A., et al. Examining the relationships between the Pro12Ala variant in PPARG and type 2 diabetes-related traits in UK samples. Diabet Med 22 (2005) 1696-1700
46. Muller Y.L., Bogardus C., Beamer B.A., Shuldiner A.R., and Baier L.J. 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 52 (2003) 1864-1871
47. Oh E.Y., Min K.M., Chung J.H., Min Y.K., Lee M.S., Kim K.W., et al. Significance of Pro12Ala mutation in peroxisome proliferator-activated receptor-gamma2 in Korean diabetic and obese subjects. J Clin Endocrinol Metab 85 (2000) 1801-1804
48. Lei H.H., Chen M.H., Yang W.S., Chiu M.C., Chen M.C., Tai T.Y., et al. Peroxisome proliferatoractivated receptor gamma 2 Pro12Ala gene variant is strongly associated with larger body mass in the Taiwanese. Metabolism 49 (2000) 1267-1270
49. Nemoto M., Sasaki T., Deeb S.S., Fujimoto W.Y., and Tajima N. Differential effect of PPARgamma2 variants in the development of type 2 diabetes between native Japanese and Japanese Americans. Diabetes Res Clin Pract 57 (2002) 131-137