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A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.

ABSTRACT: Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we conducted a three-stage genome-wide association study (GWAS) using a total of 5,892 nephrolithiasis cases and 17,809 controls of Japanese origin. Here we found three novel loci for nephrolithiasis: RGS14-SLC34A1-PFN3-F12 on 5q35.3 (rs11746443; P?=?8.51×10?¹², odds ratio (OR)?=?1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597; P?=?2.16×10?¹?, OR?=?1.22), and DGKH on 13q14.1 (rs4142110; P?=?4.62×10??, OR?=?1.14). Subsequent analyses in 21,842 Japanese subjects revealed the association of SNP rs11746443 with the reduction of estimated glomerular filtration rate (eGFR) (P?=?6.54×10??), suggesting a crucial role for this variation in renal function. Our findings elucidated the significance of genetic variations for the pathogenesis of nephrolithiasis.

SUBMITTER: Urabe Y 

PROVIDER: S-EPMC3291538 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.

Urabe Yuji Y   Tanikawa Chizu C   Takahashi Atsushi A   Okada Yukinori Y   Morizono Takashi T   Tsunoda Tatsuhiko T   Kamatani Naoyuki N   Kohri Kenjiro K   Chayama Kazuaki K   Kubo Michiaki M   Nakamura Yusuke Y   Matsuda Koichi K  

PLoS genetics 20120301 3

Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we conducted a three-stage genome-wide association study (GWAS) using a total of 5,892 nephrolithiasis cases and 17,809 controls of Japanese origin. Here we found three novel loci for nephrolithiasis: RGS14-SLC34A1-PFN3-F12 on 5q35.3 (rs11746443; P = 8.51×10⁻¹², odds ratio (OR) = 1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597; P = 2.16×10⁻¹⁴, OR = 1.22), and DGKH on 13q14  ...[more]

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