Polymorphism in the TP63 gene imparts a potential risk for leukemia in the North Indian population

Background: The role of single nucleotide polymorphism rs10937405 (C>T) of the TP63 gene in cancer including leu- kemia has previously been studied in different world populations; however, the role of this variant in leukemia in the North Indian population of Jammu and Kashmir is still unknown. Objectives: In the present study, we investigated the association of genetic variant rs10937405 with leukemic in the Jammu and Kashmir population. Methods: A total of 588 subjects, (188 cases and 400 controls) were recruited for the study. The rs10937405 variant was genotyped by using the real-time based TaqMan assay. Results: A statistically significant association was observed between the rs10937405 and leukemia [OR of 1.94 (95% CI 1.51-2.48), p=1.2x10-6]. Conclusion: The current study concludes that the rs10937405 variant is a risk factor for the development of leukemia in the population of Jammu and Kashmir, North India. However, it would be interesting to explore the contribution of this variant in other cancers as well. Our findings will help in the development of diagnostic markers for leukemia in the studied population and potentially for other North Indian populations. Keywords: Single Nucleotide Polymorphism (SNPs); Leukemia; North Indian population; Tumour suppressor (TP63); Linkage Disequilibrium (LD); Genome wide association studies (GWAS); Jammu and Kashmir (J &K).

Association between PON1 rs662 gene polymorphism and serum paraoxonase1 level in coronary artery disease patients in Northern India

Background Coronary artery disease (CAD) is a leading cause of morbidity and mortality, with a shifting trend towards the younger population. Paraoxonase1 (PON1) is a glycoprotein enzyme associated with high-density lipoprotein (HDL) particles in the blood. It has the ability to protect against lipid oxidation, thereby reducing the risk of atherogenesis. PON1 rs662 gene polymorphism may affect serum PON1 levels as well as its activity and may have a significant role in the pathogenesis of CAD. The present study was conducted to identify the association of PON1 rs662 gene polymorphism with serum PON1 levels in CAD patients in the North Indian population. This case–control study included 71 angiography-proven CAD patients (with > 50% luminal stenosis in one or more coronary arteries) and 71 controls (with < 50% luminal obstruction in angiography). PON1 rs662 gene polymorphism was studied using PCR and RFLP under the standardized protocol. Serum PON1 levels were estimated by ELISA. Results The serum PON1 level was significantly lower in the CAD group than in the controls (7.79 ± 3.16 vs. 10.79 ± 3.19 ng/mL; p < 0.0001). Logistic regression analysis showed that homozygous GG genotype of PON1 rs662 SNP has ninefold increased risk of developing CAD in an Indian population (OR = 9.0, 95%CI 2.79–29.06, p = 0.0002). A significantly higher frequency of G allele was also observed in CAD patients than in controls (OR 2.64, 95%CI 1.61–4.33, p = 0.001). Conclusions The reduced serum PON1 level is associated with CAD. PON1 rs662 gene polymorphism is significantly associated with CAD susceptibility in the North Indian population.