ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes in North Indians.
Genetic susceptibility may be responsible for high prevalence of type 2 diabetes worldwide. A common missense single nucleotide polymorphism, K121Q in the ectoenzyme nucleotide pyrophosphate phosphodiesterase (ENPP1) gene, has recently been associated with type 2 diabetes in Italian, South Indian, and American populations. The objective of this study was to investigate the possible role of K121Q polymorphism in ENPP1 gene with type 2 diabetes in North Indians. The genotype of the ENPP1/PC-1 K121Q polymorphism was determined using polymerase chain reaction-restriction fragment length polymorphism analysis for 328 T2DM patients and 326 non-diabetic participants. Anthropometric and clinical characteristics (Body mass index (BMI), glucose, total cholesterol, triglyceride, high-density lipoprotein cholesterol (HDL), Creatinine, HbA1c, and insulin levels) were measured using standard protocols. Their Chi-square analyses were used to test the significance differences in genotypic and allelic frequencies. Association studies were undertaken using the t test and logistic regression analyses. Our results revealed there was no significant difference in the genotypic distribution between T2DM patients and control subjects. The KK and KQ genotype frequencies were similar in T2DM cases and controls (60.7 and 39.3% in T2DM and 59.8 and 40.2% in controls). No subjects with the QQ genotype were found. Binary logistic regression analysis of data did not show any association of K121Q polymorphism with type 2 diabetes (OR; 0.97, 95% CI; 0.7-1.32, P = 0.82). No significant correlation among the BMI, WHR, BP, TG, TC, HDL-C, LDL-C, Glucose, HbA1c, Creatinine, and insulin indices (HOMA-IR) was observed in the individuals carrying KK and KQ genotypes. In conclusion, our results showed that ENPP1/PC-1 K121Q polymorphism is not associated with type 2 diabetes and related quantitative metabolic traits in North Indian Punjabi population.
Bhatti
Jasvinder Singh
JS
Department of Biotechnology and Bioinformatics, Sri Guru Gobind Singh College, Chandigarh, 160019, India. jasvinderbhatti@yahoo.com
Bhatti
G K
GK
Mastana
S S
SS
Ralhan
S
S
Joshi
A
A
Tewari
R
R
D000328:Adult; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011755:Pyrophosphatases / Q000235:genetics*; D019655:Quantitative Trait, Heritable
D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases
Diabetes Care. 2004 May;27(5):1047-53
15111519
Diabetes. 2000 Sep;49(9):1601-3
10969847
Diabetes. 2000 Sep;49(9):1608-11
10969849
Diabetes Care. 1992 Mar;15(3):318-68
1532777
Metabolism. 2004 Apr;53(4):465-8
15045693
Nat Genet. 2005 Aug;37(8):863-7
16025115
Diabetologia. 2006 Sep;49(9):2097-104
16865358
Diabetes. 2005 Feb;54(2):367-72
15677494
Diabetes Care. 2004 Jan;27 Suppl 1:S5-S10
14693921
J Hum Genet. 2006;51(6):559-566
16607460
Diabetes. 2005 Oct;54(10):3021-5
16186408
Diabetes. 2004 Mar;53(3):803-11
14988267
Diabetes Obes Metab. 1999 May;1 Suppl 1:S1-7
11220283
J Clin Endocrinol Metab. 2004 Mar;89(3):1359-64
15001634
Nature. 1995 Feb 2;373(6513):448-51
7830796
Diabetes. 2005 Apr;54(4):1207-13
15793263
Diabetes Metab Res Rev. 2010 May;26(4):261-70
20503258
Diabetes Care. 2003 Feb;26(2):464-7
12547881
Diabetes. 1999 Sep;48(9):1881-4
10480624
J Clin Endocrinol Metab. 2001 Dec;86(12):5888-91
11739459
Diabetes Res Clin Pract. 2005 Jun;68 Suppl1:S10-21
15955369
Nucleic Acids Res. 1988 Feb 11;16(3):1215
3344216
Diabetes. 2008 Jul;57(7):1971-7
18426862
Nat Rev Endocrinol. 2009 Dec;5(12):682-93
19924153
Diabetes. 2001 Apr;50(4):831-6
11289049
Diabetes. 2006 Nov;55(11):3175-9
17065358
Clin Chem. 1972 Jun;18(6):499-502
4337382
Diabetes Res Clin Pract. 2010 Apr;88(1):87-96
20092902
Obes Res. 2003 May;11(5):603-5
12740448
Am J Clin Nutr. 1996 Jan;63(1):4-14
8604668
Int J Obes (Lond). 2006 Feb;30(2):233-7
16231022
Endocr Rev. 2008 Feb;29(1):62-75
18199690
J Clin Endocrinol Metab. 1999 Oct;84(10):3620-5
10523005
Diabetes Care. 2001 Aug;24(8):1498-9
11473094
Metab Syndr Relat Disord. 2009 Dec;7(6):543-8
19656007
J Clin Endocrinol Metab. 2003 Dec;88(12):5927-34
14671192
Diabetologia. 1985 Jul;28(7):412-9
3899825
Diabetes. 2000 Jan;49(1):13-9
10615944