TY - JOUR
T1 - A replication study for three nephrolithiasis loci at 5q35.3, 7p14.3 and 13q14.1 in the Japanese population
AU - Yasui, Takahiro
AU - Okada, Atsushi
AU - Urabe, Yuji
AU - Usami, Masayuki
AU - Mizuno, Kentaro
AU - Kubota, Yasue
AU - Tozawa, Keiichi
AU - Sasaki, Shoichi
AU - Higashi, Yoshihito
AU - Sato, Yoshikazu
AU - Kubo, Michiaki
AU - Nakamura, Yusuke
AU - Matsuda, Koichi
AU - Kohri, Kenjiro
PY - 2013/9
Y1 - 2013/9
N2 - A previous genome-wide association study (GWAS) reported three novel nephrolithiasis-susceptibility loci at 5q35.3, 7p14.3 and 13q14.1. Here, we investigated the association of these loci with nephrolithiasis by using an independent Japanese sample set. We performed case-control association analysis using 601 patients with nephrolithiasis and 201 control subjects. We selected seven single-nucleotide polymorphisms (SNPs): rs12654812 and rs11746443 from 5q35.3 (RGS14-SLC34A1-PFN3-F12); rs12669187 and rs1000597 from 7p14.3 (INMT-FAM188B-AQP1); and rs7981733, rs1170155, and rs4142110 from 13q14.1 (DGKH (diacylglycerol kinase)), which were previously reported to be significantly associated with nephrolithiasis. rs12654812, rs12669187 and rs7981733 were significantly associated with nephrolithiasis after Bonferroni's correction (P=3.12 × 10 -3, odds ratio (OR)=1.43; P=6.40 × 10 -3, OR=1.57; and P=5.00 × 10 -3, OR=1.41, respectively). Meta-analysis of current and previous GWAS results indicated a significant association with nephrolithiasis (P=7.65 × 10 -15, 7.86 × 10 -14 and 1.06 × 10 -9, respectively). We observed a cumulative effect with these three SNPs; individuals with three or more risk alleles had a 5.9-fold higher risk for nephrolithiasis development than those with only one risk allele. Our findings elucidated the significance of genetic variation at these three loci in nephrolithiasis in the Japanese population.
AB - A previous genome-wide association study (GWAS) reported three novel nephrolithiasis-susceptibility loci at 5q35.3, 7p14.3 and 13q14.1. Here, we investigated the association of these loci with nephrolithiasis by using an independent Japanese sample set. We performed case-control association analysis using 601 patients with nephrolithiasis and 201 control subjects. We selected seven single-nucleotide polymorphisms (SNPs): rs12654812 and rs11746443 from 5q35.3 (RGS14-SLC34A1-PFN3-F12); rs12669187 and rs1000597 from 7p14.3 (INMT-FAM188B-AQP1); and rs7981733, rs1170155, and rs4142110 from 13q14.1 (DGKH (diacylglycerol kinase)), which were previously reported to be significantly associated with nephrolithiasis. rs12654812, rs12669187 and rs7981733 were significantly associated with nephrolithiasis after Bonferroni's correction (P=3.12 × 10 -3, odds ratio (OR)=1.43; P=6.40 × 10 -3, OR=1.57; and P=5.00 × 10 -3, OR=1.41, respectively). Meta-analysis of current and previous GWAS results indicated a significant association with nephrolithiasis (P=7.65 × 10 -15, 7.86 × 10 -14 and 1.06 × 10 -9, respectively). We observed a cumulative effect with these three SNPs; individuals with three or more risk alleles had a 5.9-fold higher risk for nephrolithiasis development than those with only one risk allele. Our findings elucidated the significance of genetic variation at these three loci in nephrolithiasis in the Japanese population.
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U2 - 10.1038/jhg.2013.59
DO - 10.1038/jhg.2013.59
M3 - Article
C2 - 23719187
AN - SCOPUS:84886656246
SN - 1434-5161
VL - 58
SP - 588
EP - 593
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 9
ER -