| Geno
|
Mag
|
Summary
|
| (A;A)
|
|
1.19x risk of kidney stone in Japanese
|
| (A;G)
|
|
1.19x risk of kidney stone in Japanese
|
| (G;G)
|
|
normal
|
| GWAS snp
|
| PMID
|
[PMID 22396660 ]
|
| Trait
|
|
| Title
|
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
|
| Risk Allele
|
|
| P-val
|
9E-12
|
| Odds Ratio
|
1.1900 None
|
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.
[PMID 33052825] Genetic polymorphisms in CLDN14 (rs219780) and ALP (rs1256328) genes are associated with risk of nephrolithiasis in Egyptian children.
[PMID 33309307] Genetic Polymorphisms of RGS14 and Renal Stone Disease: A Case-control Study Based on the Chinese Han Population.
]
