Table 1. Summary information for the lead regional sequence variants associating with kidney stone.
| SNP ID | Position (Hg18) | A | MAF (%) ice/1Keu | Locus |
Kidney stones |
Recurrent kidney stones |
Mechanism | ||
|---|---|---|---|---|---|---|---|---|---|
| P | OR | P | OR | ||||||
| rs199565725 | chr21:36757108 | A/AAC | 23.68/23.20 | CLDN14 | 4.7 × 10−13 | 0.81 | 3.5 × 10−9 | 0.77 | Cell–cell adhesion |
| rs12654812 | chr5:176726797 | A/G | 41.84/34.78 | SLC34A1 | 5.7 × 10−11 | 1.18 | 4.4 × 10−7 | 1.21 | Na/Pi co-transporter |
| rs1256328 | chr1:21769354 | T/C | 17.79/17.32 | ALPL | 5.8 × 10−10 | 1.21 | 4.0 × 10−6 | 1.23 | Alkaline phosphatase |
| rs7627468 | chr3:123428789 | A/G | 26.80/24.02 | CASR | 2.0 × 10−8 | 1.16 | 4.1 × 10−5 | 1.18 | Ca-sensing G-protein-coupled receptor |
A, allele (minor/major); MAF, minor allele frequency (ice, Iceland; 1Keu, 1000 genomes European Americans); OR, odds ratio.
Reported are the three genome-wide significant (P<1.8 × 10−9) sequence variants (rs199565725, rs12654812 and rs1256328) and in addition one suggestive sequence variant (rs7627468) associating with kidney stone in Iceland.