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Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India

Kidney stone disease (KSD) is a major clinical problem imposing a large burden for both healthcare and economy globally. In India, the prevalence of kidney stone disease is rapidly increasing. This study aimed to evaluate the association between genetic defects in vitamin D receptor (VDR), calcium s...

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Autores principales: Guha, Manalee, Bankura, Biswabandhu, Ghosh, Sudakshina, Pattanayak, Arup Kumar, Ghosh, Saurabh, Pal, Dilip Kumar, Puri, Anurag, Kundu, Anup Kumar, Das, Madhusudan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480968/
https://www.ncbi.nlm.nih.gov/pubmed/26107257
http://dx.doi.org/10.1371/journal.pone.0130790
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author Guha, Manalee
Bankura, Biswabandhu
Ghosh, Sudakshina
Pattanayak, Arup Kumar
Ghosh, Saurabh
Pal, Dilip Kumar
Puri, Anurag
Kundu, Anup Kumar
Das, Madhusudan
author_facet Guha, Manalee
Bankura, Biswabandhu
Ghosh, Sudakshina
Pattanayak, Arup Kumar
Ghosh, Saurabh
Pal, Dilip Kumar
Puri, Anurag
Kundu, Anup Kumar
Das, Madhusudan
author_sort Guha, Manalee
collection PubMed
description Kidney stone disease (KSD) is a major clinical problem imposing a large burden for both healthcare and economy globally. In India, the prevalence of kidney stone disease is rapidly increasing. This study aimed to evaluate the association between genetic defects in vitamin D receptor (VDR), calcium sensing receptor (CaSR) and claudin 14 (CLDN14) genes and kidney stone disease in patients from eastern India. We enrolled 200 consecutive kidney stone patients (age 18–60 years) (cases) and their corresponding sex and age matched 200 normal individuals (controls). To identify genetic variants responsible for KSD, we performed sequence analysis of VDR, CaSR and CLDN14 genes. Four non-synonymous (rs1801725, rs1042636, rs1801726 and rs2228570), one synonymous (rs219780) and three intronic single nucleotide polymorphisms (SNPs) (rs731236, rs219777 and 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 were significantly higher in subjects carrying 986Ser allele and calcium excretion was higher in subjects bearing 990Gly allele. In conclusion, rs1801725, rs1042636, rs219778 and rs219780 SNPs were associated with kidney stone risk in patients from the eastern part of India.
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spelling pubmed-44809682015-06-29 Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India Guha, Manalee Bankura, Biswabandhu Ghosh, Sudakshina Pattanayak, Arup Kumar Ghosh, Saurabh Pal, Dilip Kumar Puri, Anurag Kundu, Anup Kumar Das, Madhusudan PLoS One Research Article Kidney stone disease (KSD) is a major clinical problem imposing a large burden for both healthcare and economy globally. In India, the prevalence of kidney stone disease is rapidly increasing. This study aimed to evaluate the association between genetic defects in vitamin D receptor (VDR), calcium sensing receptor (CaSR) and claudin 14 (CLDN14) genes and kidney stone disease in patients from eastern India. We enrolled 200 consecutive kidney stone patients (age 18–60 years) (cases) and their corresponding sex and age matched 200 normal individuals (controls). To identify genetic variants responsible for KSD, we performed sequence analysis of VDR, CaSR and CLDN14 genes. Four non-synonymous (rs1801725, rs1042636, rs1801726 and rs2228570), one synonymous (rs219780) and three intronic single nucleotide polymorphisms (SNPs) (rs731236, rs219777 and 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 were significantly higher in subjects carrying 986Ser allele and calcium excretion was higher in subjects bearing 990Gly allele. In conclusion, rs1801725, rs1042636, rs219778 and rs219780 SNPs were associated with kidney stone risk in patients from the eastern part of India. Public Library of Science 2015-06-24 /pmc/articles/PMC4480968/ /pubmed/26107257 http://dx.doi.org/10.1371/journal.pone.0130790 Text en © 2015 Guha et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Guha, Manalee
Bankura, Biswabandhu
Ghosh, Sudakshina
Pattanayak, Arup Kumar
Ghosh, Saurabh
Pal, Dilip Kumar
Puri, Anurag
Kundu, Anup Kumar
Das, Madhusudan
Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India
title Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India
title_full Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India
title_fullStr Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India
title_full_unstemmed Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India
title_short Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India
title_sort polymorphisms in casr and cldn14 genes associated with increased risk of kidney stone disease in patients from the eastern part of india
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480968/
https://www.ncbi.nlm.nih.gov/pubmed/26107257
http://dx.doi.org/10.1371/journal.pone.0130790
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