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

Yuji Urabe; Chizu Tanikawa; Atsushi Takahashi; Yukinori Okada; Takashi Morizono; Tatsuhiko Tsunoda; Naoyuki Kamatani; Kenjiro Kohri; Kazuaki Chayama; Michiaki Kubo; Yusuke Nakamura; Koichi Matsuda

doi:10.1371/journal.pgen.1002541

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

Yuji Urabe, Chizu Tanikawa, Atsushi Takahashi, Yukinori Okada, Takashi Morizono, Tatsuhiko Tsunoda, Naoyuki Kamatani, Kenjiro Kohri, Kazuaki Chayama, Michiaki Kubo, Yusuke Nakamura, Koichi Matsuda

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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 ^-14, OR = 1.22), and DGKH on 13q14.1 (rs4142110; P = 4.62×10 ^-9, 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 ^-8), suggesting a crucial role for this variation in renal function. Our findings elucidated the significance of genetic variations for the pathogenesis of nephrolithiasis.

Original language	English
Article number	e1002541
Journal	PLoS Genetics
Volume	8
Issue number	3
DOIs	https://doi.org/10.1371/journal.pgen.1002541
Publication status	Published - 03-2012
Externally published	Yes

All Science Journal Classification (ASJC) codes

Ecology, Evolution, Behavior and Systematics
Molecular Biology
Genetics
Genetics(clinical)
Cancer Research

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1371/journal.pgen.1002541

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Urabe, Y., Tanikawa, C., Takahashi, A., Okada, Y., Morizono, T., Tsunoda, T., Kamatani, N., Kohri, K., Chayama, K., Kubo, M., Nakamura, Y., & Matsuda, K. (2012). A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible loci at 5q35.3, 7p14.3, and 13q14.1. PLoS Genetics, 8(3), Article e1002541. https://doi.org/10.1371/journal.pgen.1002541

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title = "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 -14, OR = 1.22), and DGKH on 13q14.1 (rs4142110; P = 4.62×10 -9, 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 -8), suggesting a crucial role for this variation in renal function. Our findings elucidated the significance of genetic variations for the pathogenesis of nephrolithiasis.",

author = "Yuji Urabe and Chizu Tanikawa and Atsushi Takahashi and Yukinori Okada and Takashi Morizono and Tatsuhiko Tsunoda and Naoyuki Kamatani and Kenjiro Kohri and Kazuaki Chayama and Michiaki Kubo and Yusuke Nakamura and Koichi Matsuda",

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Urabe, Y, Tanikawa, C, Takahashi, A, Okada, Y, Morizono, T, Tsunoda, T, Kamatani, N, Kohri, K, Chayama, K, Kubo, M, Nakamura, Y & Matsuda, K 2012, 'A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible loci at 5q35.3, 7p14.3, and 13q14.1', PLoS Genetics, vol. 8, no. 3, e1002541. https://doi.org/10.1371/journal.pgen.1002541

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AU - Urabe, Yuji

AU - Tanikawa, Chizu

AU - Takahashi, Atsushi

AU - Okada, Yukinori

AU - Morizono, Takashi

AU - Tsunoda, Tatsuhiko

AU - Kamatani, Naoyuki

AU - Kohri, Kenjiro

AU - Chayama, Kazuaki

AU - Kubo, Michiaki

AU - Nakamura, Yusuke

AU - Matsuda, Koichi

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Y1 - 2012/3

N2 - 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 13q14.1 (rs4142110; P = 4.62×10 -9, 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 -8), suggesting a crucial role for this variation in renal function. Our findings elucidated the significance of genetic variations for the pathogenesis of nephrolithiasis.

AB - 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 13q14.1 (rs4142110; P = 4.62×10 -9, 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 -8), suggesting a crucial role for this variation in renal function. Our findings elucidated the significance of genetic variations for the pathogenesis of nephrolithiasis.

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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

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