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.
journal_name
PLoS Genetjournal_title
PLoS geneticsauthors
Urabe Y,Tanikawa C,Takahashi A,Okada Y,Morizono T,Tsunoda T,Kamatani N,Kohri K,Chayama K,Kubo M,Nakamura Y,Matsuda Kdoi
10.1371/journal.pgen.1002541subject
Has Abstractpub_date
2012-01-01 00:00:00pages
e1002541issue
3eissn
1553-7390issn
1553-7404pii
PGENETICS-D-11-02290journal_volume
8pub_type
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