A Genome-Wide Association Study of Nephrolithiasis in the Japanese Population Identifies Novel Susceptible Loci at 5q35.3, 7p14.3, and 13q14.1

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 nove...

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Detalles Bibliográficos
Autores principales: Urabe, Yuji, Tanikawa, Chizu, Takahashi, Atsushi, Okada, Yukinori, Morizono, Takashi, Tsunoda, Tatsuhiko, Kamatani, Naoyuki, Kohri, Kenjiro, Chayama, Kazuaki, Kubo, Michiaki, Nakamura, Yusuke, Matsuda, Koichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291538/
https://www.ncbi.nlm.nih.gov/pubmed/22396660
http://dx.doi.org/10.1371/journal.pgen.1002541
Descripción
Sumario: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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