Determination of individual type 2 diabetes risk profile in the North East Indian population & its association with anthropometric parameters.

Background & objectives: Diabetes genomics research has illuminated single nucleotide polymorphism (SNP) in several genes including, fat mass and obesity associated (FTO) (rs9939609 and rs9926289), potassium voltage-gated channel subfamily J member 11 (rs5219), SLC30A 8 (rs13266634) and peroxisome proliferator-activated receptor gamma 2 (rs1805192). The present study was conducted to investigate the involvement of these polymorphisms in conferring susceptibility to type 2 diabetes (T2D) in the North East Indian population, and also to establish their association with anthropometric parameters. Methods: DNA was extracted from blood samples of 155 patients with T2D and 100 controls. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing. To confirm the association between the inheritance of SNP and T2D development, logistic regression analysis was performed. Results: For the rs9939609 variant (FTO), the dominant model AA/(AT+TT) revealed significant association with T2D [odds ratio (OR)=2.03, P=0.021], but was non-significant post correction for multiple testing (P=0.002). For the rs13266634 variant (SLC30A 8), there was considerable but non-significant difference in the distribution pattern of genotypic polymorphisms between the patients and the controls (P=0.004). Significant association was observed in case of the recessive model (CC+CT)/TT (OR=4.56 P=0.001), after adjusting for age, gender and body mass index. In addition, a significant association (P=0.001) of low-density lipoprotein (mg/dl) could be established with the FTO (rs9926289) polymorphism assuming dominant model. Interpretation & conclusions: The current study demonstrated a modest but significant effect of SLC30A8 (rs13266634) polymorphisms on T2D predisposition. Considering the burgeoning prevalence of T2D in the Indian population, the contribution of these genetic variants studied, to the ever-increasing number of T2D cases, appears to be relatively low. This study may serve as a foundation for performing future genome-wide association studies (GWAS) involving larger populations.

Association of Angiotensin converting enzyme gene insertion / deletion polymorphism with risk of ischemic heart disease in a population of smokers in southern India.

BACKGROUND: Ischemic heart disease (IHD) remains a major public health problem nationally and internationally. Smoking is a major risk factor for IHD.The deletion (D) allele of the angiotensin converting enzyme (ACE) gene polymorphism has been associated with hypertension, ischemic stroke and myocardial infarction. The present study was carried out to determine the association of the ACE gene insertion/deletion (I/D) polymorphism in IHD patients with and without smoking. MATERIALS AND METHODS: One hundred seven male IHD patients admitted consecutively in the Cardiology unit of a Government Hospital and 100 age and sex matched healthy controls were enrolled in this study.The patients were further divided into smokers and nonsmokers. All the subjects were checked for I/D polymorphism of ACE gene, which is mapped to 17q23.3 with OMIM no 106180, by polymerase chain reaction (PCR). The subjects were also investigated for lipid profile and ejection fraction (EF). RESULTS: We found significant difference in the distribution of D allele between patients and controls (p=0.009, OR 1.69, 95% CI 1.139 to 2.517).The significantly lower EF (p<0.001) was suggestive of greater cardiovascular compromise in smokers. The frequency of ID genotype was significantly associated with cases compared to controls (p=0.012, OR 2.054, 95% CI 1.1694-3.624) but was not significantly associated with smokers as compared to nonsmokers. CONCLUSION: We infer significant association of D allele with IHD. The smokers with ID genotype should be put on prophylactic ACE inhibitor therapy to prevent the morbidity and mortality associated with IHD.