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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

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

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 Summary: Although nephrolithiasis is one of the most common nephro-urological disorders with high prevalence (4%–9%) and extremely high recurrence rate (60% within ten years), little is known about the role of common variations in its pathogenesis. Through a GWAS using a total of 5,892 cases and 17,809 controls, we identified three novel nephrolithiasis loci: rs11746443, rs1000597, and rs4142110 (P

Suggested Citation

  • Yuji Urabe & Chizu Tanikawa & Atsushi Takahashi & Yukinori Okada & Takashi Morizono & Tatsuhiko Tsunoda & Naoyuki Kamatani & Kenjiro Kohri & Kazuaki Chayama & Michiaki Kubo & Yusuke Nakamura & Koichi , 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, Public Library of Science, vol. 8(3), pages 1-7, March.
    • Handle: RePEc:plo:pgen00:1002541
    DOI: 10.1371/journal.pgen.1002541
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    Cited by:

    1. Chizu Tanikawa & Yukinori Okada & Atsushi Takahashi & Katsutoshi Oda & Naoyuki Kamatani & Michiaki Kubo & Yusuke Nakamura & Koichi Matsuda, 2013. "Genome Wide Association Study of Age at Menarche in the Japanese Population," PLOS ONE, Public Library of Science, vol. 8(5), pages 1-8, May.
    2. Xingjie Hao & Zhonghe Shao & Ning Zhang & Minghui Jiang & Xi Cao & Si Li & Yunlong Guan & Chaolong Wang, 2023. "Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture," Nature Communications, Nature, vol. 14(1), pages 1-12, December.

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