Preprint Article Version 1 This version is not peer-reviewed

A Preliminary Study on Single Nucleotide Polymorphisms (SNPs) in SPP1 Gene with Higher Threat of Urolithiasis in Victims from West Bengal, India

Version 1 : Received: 16 November 2018 / Approved: 19 November 2018 / Online: 19 November 2018 (10:01:55 CET)

How to cite: Guha, M.; Banerjee, H..; Pal, D.K.; Das, M. A Preliminary Study on Single Nucleotide Polymorphisms (SNPs) in SPP1 Gene with Higher Threat of Urolithiasis in Victims from West Bengal, India. Preprints 2018, 2018110440 (doi: 10.20944/preprints201811.0440.v1). Guha, M.; Banerjee, H..; Pal, D.K.; Das, M. A Preliminary Study on Single Nucleotide Polymorphisms (SNPs) in SPP1 Gene with Higher Threat of Urolithiasis in Victims from West Bengal, India. Preprints 2018, 2018110440 (doi: 10.20944/preprints201811.0440.v1).

Abstract

Urolithiasis is a painful experience associated with hematuria, damage to kidney tissue and renal failure. It is a multi-factorial disorder while in India, its prevalence is rapidly increasing imposing a large burden for both healthcare and economy globally. In this article, we aimed to evaluate the association between genetic defects in SPP1 gene and urolithiasis from East Indian patients.75 urolithiasis patients were recruited from SSKM Hospital & Institute of Post Graduate Medical Education & Research (IPGME&R), Kolkata, India while 75 healthy controls were recruited from the same community. SNPs based areas of SPP1 gene were analyzed by direct sequencing to identify genetic defects.We identified 3 polymorphisms one synonymous and two 3’UTR variants rs1126616: p.Ala250Ala, rs1126772: 7315 a>g, rs9138: 7471 a>c in SPP1 gene in study individuals. Genotype and allele frequency analysis of these SNPs revealed that, rs9138 SNP was significantly associated with urolithiasis risk in East Indian patients. To our knowledge this is the first study reporting the role of the gene with urolithiasis in the population of West Bengal, India.

Subject Areas

kidney tissue; renal failure; human genetics; eastern part of India

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