Comprehensive genetic screening of VDR, CaSR and CLDN14 among patients having kidney stone disease in eastern part of India

5^th Global Nephrologists Annual Meeting

March 31-April 02, 2016 Valencia, Spain

Manalee Guha and Madhusudan Das

University of Calcutta, India

Posters & Accepted Abstracts: J Nephrol Ther

Abstract :

Growing incidence of Kidney Stone Disease (KSD) poses an increasing threat for global economy and healthcare. Insufficient understanding of molecular and genetic basis of pathogenic mechanisms underlying KSD remains a crucial barrier to its early detection and treatment. The diversity of genes and genetic loci implicated in KSD defines the complexity of the genetic basis of stone formation. In spite of this large heterogeneity, polymorphisms in the genes VDR, CaSR and CLDN14 are major contributors. The mutation/polymorphism spectrum of these genes varies among different ethnic groups. Few studies have focused on the northern regions of India related to KSD; however, no such data is available from eastern part of our country. Polymorphisms in VDR, CaSR and CLDN14 genes were screened by bidirectional sequencing from 200 consecutive kidney stone patients. Four non-synonymous (rs1801725, rs1042636, rs1801726 and rs2228570), one synonymous (rs219780) and three intronic single nucleotide polymorphisms (SNPs) (rs731236, rs219777, rs219778) were identified. Genotype and allele frequency analysis of these SNPs revealed that, rs1801725 (Ala986Ser), rs1042636 (Arg990Gly) of CaSR gene and rs219778, rs219780 (Thr229Thr) of CLDN14 gene were significantly associated with KSD. Serum calcium levels and calcium excretion were significantly higher in subjects carrying 986Ser allele and 990Gly allele respectively. The lack of association of VDR polymorphisms suggest that additional genetic factors such as complexity of disease etiology, genetic heterogeneity, ethnicity, differences in population characteristics, including interaction with environmental factors may also contribute to this disease. In conclusion, rs1801725, rs1042636, rs219778 and rs219780 SNPs were associated with kidney stone risk in patients from the eastern part of India.

Biography :

Email: manalee.guha@gmail.com