Association of SLC30A8, CDKAL1, TCF7L2 and HHEX Gene Polymorphisms with Type 2 Diabetes in the Population of North East India

Association Between CDKAL1, HHEX, CDKN2A/2B and IGF2BP2 Gene Polymorphisms and Susceptibility to Type 2 Diabetes in Uttarakhand, India

“…This may be because of different ethnicity among different populations. 19 We observed a significant association of HHEX gene polymorphism with T2DM only under the dominant model. Association of rs10811661 SNP in CDKN2A/2B with T2DM has been confirmed by various GWAS in different populations.…”

“…HHEX gene regulated beta-cell function and maturation by activating hepatocyte nuclear factor -1a. 19 Association of HHEX SNP rs1111875 and T2DM was found significant in many Chinese studies. 41,42 In the case of HHEX rs1111875, we observe that the genotype frequencies difference between T2DM cases and control were statistically non-significant.…”

“…18 HHEX or haematopoietically expressed homeobox gene encodes a protein that influences the Wnt pathway of signaling that is important for development as well as the growth of cells and it also regulates beta-cell function and maturation by activating HNF (hepatocyte nuclear factor) -1a. 19 CDKN2A/2B or cyclin-dependent kinase inhibitor 2A/2B gene present at 9th chromosome at position p21. Association of rs10811661 SNP in CDKN2A/2B with T2DM has been confirmed by various GWAS in different populations.…”

Diabetes and Renin-Angiotensin-Aldosterone System: Pathophysiology and Genetics

“…Notably rs4731702 of intronless KLF14 demonstrated an association with insulin resistance [164] while rs972283 contributed to elevated blood pressure [165], which may ultimately increase risk of cardiovascular disease; C allele of the rs2283228 within HCNQ1 showed association with increased fasting glucose levels and impaired β-cell function in Asians [166], while C allele of rs2237895 in KCNQ1 was found to be related to decreased risk of abdominal obesity in patients with T2DM [167,168]; rs5945326 of DUSP9 on X chromosome was related to the increased risk of T2D in Japanese [169], Pakistanis [170] and in European [171] populations; rs1558902 within FTO showed correlation with the incidence T2D in humans even after adjusting the data with confounding factors such as age and BMI [172] and rs9939609 may modulate the risk of T2D by regulating other genes, an incidence independent of BMI [173]; variants present within the tumor suppressor cyclin dependent kinase inhibitors, CDKN2A and CDKN2B, reported to be associated with T2D in Asians and Europeans [174][175][176][177]. rs10811661 of CDKN2A/2B is also, according to GWAS, linked to diabetes [178]; hematopoietically-expressed homeobox or HHEX gene variants rs11118745G/A, rs7923837A/G, and rs5015480C/T had been identified as risk factors for T2D in Japanese [179], German [180], Korean [181], Indian [182] populations. Association of a common variant, Trp325Arg within SLC30A8, with the risk of T2D [171,183]…”

“…Interestingly, through genotyping of ~150,000 individuals from five ethic groups, Flannick et al (2014) revealed protective role against the development of T2D mediated by the loss of function variants harbored within SLC30A8 [186]. AA genotype of rs11558471 of SLC30A8 was found significantly more frequent in T2D patients than in controls in Han Chinese [187] and Indian [182] populations.…”