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 and Koichi Matsuda

PLOS Genetics, 2012, vol. 8, issue 3, 1-7

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

Date: 2012
References: View complete reference list from CitEc
Citations: View citations in EconPapers (2)

Downloads: (external link)
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002541 (text/html)
https://journals.plos.org/plosgenetics/article/fil ... 02541&type=printable (application/pdf)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:plo:pgen00:1002541

DOI: 10.1371/journal.pgen.1002541

Access Statistics for this article

More articles in PLOS Genetics from Public Library of Science
Bibliographic data for series maintained by plosgenetics ().