title: Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India.
abstract: 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.
authors.affiliation: Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
authors.forename: Manalee
authors.initials: M
authors.lastname: Guha
authors.affiliation: Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
authors.forename: Biswabandhu
authors.initials: B
authors.lastname: Bankura
authors.affiliation: Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
authors.forename: Sudakshina
authors.initials: S
authors.lastname: Ghosh
authors.affiliation: Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
authors.forename: Arup Kumar
authors.initials: AK
authors.lastname: Pattanayak
authors.affiliation: Human Genetics Unit, Indian Statistical Institute, Kolkata, West Bengal, India.
authors.forename: Saurabh
authors.initials: S
authors.lastname: Ghosh
authors.affiliation: Department of Urology, Institute of Post Graduate Medical Education & Research, Kolkata, West Bengal, India.
authors.forename: Dilip Kumar
authors.initials: DK
authors.lastname: Pal
authors.affiliation: Department of Urology, Institute of Post Graduate Medical Education & Research, Kolkata, West Bengal, India.
authors.forename: Anurag
authors.initials: A
authors.lastname: Puri
authors.affiliation: Department of Urology, Institute of Post Graduate Medical Education & Research, Kolkata, West Bengal, India.
authors.forename: Anup Kumar
authors.initials: AK
authors.lastname: Kundu
authors.affiliation: Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
authors.forename: Madhusudan
authors.initials: M
authors.lastname: Das
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002118:Calcium / Q000097:blood; D016022:Case-Control Studies; D057167:Claudins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D007669:Kidney Calculi / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics / Q000378:metabolism; D044169:Receptors, Calcium-Sensing / Q000235:genetics* / Q000378:metabolism; D012306:Risk; D017422:Sequence Analysis, DNA
chemical_list: C095550:CASR protein, human; D057167:Claudins; D018167:Receptors, Calcitriol; D044169:Receptors, Calcium-Sensing; C579457:VDR protein, human; D002118:Calcium; C422064:claudin 14