[No authors listed]
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; Pâ=â8.51Ã10â»Â¹Â², odds ratio (OR)â=â1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597; Pâ=â2.16Ã10â»Â¹â´, ORâ=â1.22), and DGKH on 13q14.1 (rs4142110; Pâ=â4.62Ã10â»â¹, ORâ=â1.14). Subsequent analyses in 21,842 Japanese subjects revealed the association of SNP rs11746443 with the reduction of estimated glomerular filtration rate (eGFR) (Pâ=â6.54Ã10â»â¸), 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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