Effect of increase in the number of “effective” risk alleles on the risk of Kidney stone disease in combined samples.

<p>OR are plotted on the <i>y</i>-axis for the corresponding number of “effective” risk alleles on the <i>x</i>-axis. Numbers in parentheses on <i>x</i>-axis indicate sample size in each category. <2 group considers as reference group. <2: Individuals having 2 or less “effective” risk alleles. 2- -3: Individuals having 2–3 “effective” risk alleles. 3- -4: Individuals having 3–4 “effective” risk alleles. >4: Individuals having 4 or more “effective” risk alleles.</p

Comparison of serum calcium concentration and urinary calcium excretion level with individual carrying 4 risk alleles and individuals carrying less numbers of risk alleles.

<p>Values given are averages ± SD.</p><p>Comparison of serum calcium concentration and urinary calcium excretion level with individual carrying 4 risk alleles and individuals carrying less numbers of risk alleles.</p

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

<div><p>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 <i>(VDR)</i>, calcium sensing receptor <i>(CaSR)</i> and claudin 14 <i>(CLDN14)</i> 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 <i>VDR</i>, <i>CaSR</i> and <i>CLDN14</i> 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 <i>CaSR</i> gene and rs219778, rs219780 (Thr229Thr) of <i>CLDN14</i> 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.</p></div

[A] & 1[B] Linkage disequilibrium (LD) pattern (r2) of the three SNPs in CaSR gene and three SNPs in CLDN14 gene respectively in case and control groups.

<p>The LD between the SNPs is measured as r2 and shown in the diamond at the intersection of the diagonals from each SNP. r2 = 0 is shown as white, 0 < r2 <1 is shown in gray and r2 = 1 is shown in black.</p

Clinical characteristics of the study subjects.

<p>Values given are averages ± SD.</p><p>Clinical characteristics of the study subjects.</p

Additional file 3: Data S2. of Polymorphisms in ADH1B and ALDH2 genes associated with the increased risk of gastric cancer in West Bengal, India

Description of data- raw data of all the participants in the study. (CSV 11 kb

Additional file 2: Table S1. of Polymorphisms in ADH1B and ALDH2 genes associated with the increased risk of gastric cancer in West Bengal, India

Primers using for amplification of SNPs of ADH1A, ADH1B, ADH1C and ALDH2 gene, Description of data- list all primers used in the study. (DOCX 14 kb

Additional file 1: Data S1. of Polymorphisms in ADH1B and ALDH2 genes associated with the increased risk of gastric cancer in West Bengal, India

Gastric cancer patient report, Description of data- participant questionnaire used in the study. (DOCX 16 kb