@article{10.1371/journal.pgen.1002541, doi = {10.1371/journal.pgen.1002541}, author = {Urabe, Yuji AND Tanikawa, Chizu AND Takahashi, Atsushi AND Okada, Yukinori AND Morizono, Takashi AND Tsunoda, Tatsuhiko AND Kamatani, Naoyuki AND Kohri, Kenjiro AND Chayama, Kazuaki AND Kubo, Michiaki AND Nakamura, Yusuke AND Matsuda, Koichi}, journal = {PLOS Genetics}, publisher = {Public Library of Science}, title = {A Genome-Wide Association Study of Nephrolithiasis in the Japanese Population Identifies Novel Susceptible Loci at 5q35.3, 7p14.3, and 13q14.1}, year = {2012}, month = {03}, volume = {8}, url = {https://doi.org/10.1371/journal.pgen.1002541}, pages = {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.}, number = {3}, }