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

Research output: Contribution to journalArticle

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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 languageEnglish
Article numbere1002541
JournalPLoS Genetics
Volume8
Issue number3
DOIs
Publication statusPublished - 01-03-2012
Externally publishedYes

Fingerprint

renal calculi
Nephrolithiasis
Genome-Wide Association Study
etiology
genetic variation
genome
loci
odds ratio
Population
Odds Ratio
glomerular filtration rate
renal function
Glomerular Filtration Rate
Single Nucleotide Polymorphism
pathogenesis
genome-wide association study
rate
Kidney

All Science Journal Classification (ASJC) codes

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

Cite this

Urabe, Yuji ; Tanikawa, Chizu ; Takahashi, Atsushi ; Okada, Yukinori ; Morizono, Takashi ; Tsunoda, Tatsuhiko ; Kamatani, Naoyuki ; Kohri, Kenjiro ; Chayama, Kazuaki ; Kubo, Michiaki ; Nakamura, Yusuke ; Matsuda, Koichi. / A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible loci at 5q35.3, 7p14.3, and 13q14.1. In: PLoS Genetics. 2012 ; Vol. 8, No. 3.
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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.",
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

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

In: PLoS Genetics, Vol. 8, No. 3, e1002541, 01.03.2012.

Research output: Contribution to journalArticle

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T1 - A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible loci at 5q35.3, 7p14.3, and 13q14.1

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

PY - 2012/3/1

Y1 - 2012/3/1

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.

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