|
rs151340627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In another family, a woman heterozygous for the W343X mutation also had nephrolithiasis.
|
9734595 |
1998 |
|
rs151340624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R704X mutation is identical to that found in X-linked recessive nephrolithiasis, but there was no renal failure in our patient.
|
9893114 |
1999 |
|
rs1042636
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In PHPT patients, only R990G polymorphism was associated with disease parameters; in comparison with R/R, R/G+G/G patients showed lower mean serum parathyroid hormone (PTH) and phosphate levels (139.9 +/- 62.2 vs 199.9 +/- 136.3 pg/ml, P < 0.05 and 0.69 +/- 0.12 vs 0.81 +/- 0.18 mmol/l, P = 0.031 respectively), higher mean 24-h urine calcium concentration and calcium excretion (9.05 +/- 2.05 vs 6.77 +/- 4.31 mmol/24 h, P = 0.012 and 67 +/- 20 vs 51 +/- 26 mumol/l GF, P = 0.039), and increased prevalence of nephrolithiasis (90.0 vs 44.2%, P = 0.007).
|
17062884 |
2006 |
|
rs1801726
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped for CaSR A986S, R990G, and Q1011E polymorphisms, 119 normocalciuric and 124 hypercalciuric women with negative history of kidney stones.
|
17332735 |
2007 |
|
rs756322971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped for CaSR A986S, R990G, and Q1011E polymorphisms, 119 normocalciuric and 124 hypercalciuric women with negative history of kidney stones.
|
17332735 |
2007 |
|
rs1373464667
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study describes two novel compound heterozygous mutations, c.410C>T(p.T137M) (T137M) on the maternal and g.4225_50del on the paternal allele of SLC34A3, in a previously reported male with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and recurrent kidney stones (Chen C, Carpenter T, Steg N, Baron R, Anast C. Pediatrics 84: 276-280, 1989).
|
18480181 |
2008 |
|
rs219780
|
|
C |
0.810 |
GeneticVariation |
GWASCAT |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
|
19561606 |
2009 |
|
rs219780
|
|
C |
0.810 |
GeneticVariation |
GWASDB |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
|
19561606 |
2009 |
|
rs219778
|
|
|
0.710 |
GeneticVariation |
GWASDB |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
|
19561606 |
2009 |
|
rs219781
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
|
19561606 |
2009 |
|
rs1014290
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was a weak but significant association of all 4 SNPs and nephrolithiasis (P=0.029 for rs733175; P=0.006 for rs6449213; P=0.020 for rs1014290, and P=0.011 for rs737267).
|
20162745 |
2010 |
|
rs6449213
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression in an age- and sex-adjusted model suggested that genotype C/T for rs6449213 had odds ratio for nephrolithiasis of 2.89 (95% confidence interval 1.13-7.40).
|
20162745 |
2010 |
|
rs733175
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was a weak but significant association of all 4 SNPs and nephrolithiasis (P=0.029 for rs733175; P=0.006 for rs6449213; P=0.020 for rs1014290, and P=0.011 for rs737267).
|
20162745 |
2010 |
|
rs737267
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was a weak but significant association of all 4 SNPs and nephrolithiasis (P=0.029 for rs733175; P=0.006 for rs6449213; P=0.020 for rs1014290, and P=0.011 for rs737267).
|
20162745 |
2010 |
|
rs12313273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On sliding window analysis the results of the 2 (rs12313273 and rs7135617) and the 3 (rs12313273, rs7135617 and rs6486795) single nucleotide polymorphism haplotypes had more significant effects on the risk of nephrolithiasis than the single nucleotide polymorphism rs12313273.
|
21420116 |
2011 |
|
rs6486795
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On sliding window analysis the results of the 2 (rs12313273 and rs7135617) and the 3 (rs12313273, rs7135617 and rs6486795) single nucleotide polymorphism haplotypes had more significant effects on the risk of nephrolithiasis than the single nucleotide polymorphism rs12313273.
|
21420116 |
2011 |
|
rs7135617
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On sliding window analysis the results of the 2 (rs12313273 and rs7135617) and the 3 (rs12313273, rs7135617 and rs6486795) single nucleotide polymorphism haplotypes had more significant effects on the risk of nephrolithiasis than the single nucleotide polymorphism rs12313273.
|
21420116 |
2011 |
|
rs13140012
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs in Intron 1 of MTNR1A were significantly associated with calcium nephrolithiasis: rs13140012 (P = 0.0004) and rs6553010 (P = 0.009).
|
21652546 |
2012 |
|
rs6553010
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs in Intron 1 of MTNR1A were significantly associated with calcium nephrolithiasis: rs13140012 (P = 0.0004) and rs6553010 (P = 0.009).
|
21652546 |
2012 |
|
rs17251221
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicated no significant association between the CASR polymorphism (rs17251221) and the susceptibility of calcium nephrolithiasis.
|
21966463 |
2011 |
|
rs7652589
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Therefore, it is a candidate gene for calcium nephrolithiasis.In a case-control study we found an association between the normocitraturic stone formers and two SNPs of CaSR, located near the promoters region (rs7652589 and rs1501899).
|
22107799 |
2011 |
|
rs1501899
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Therefore, it is a candidate gene for calcium nephrolithiasis.In a case-control study we found an association between the normocitraturic stone formers and two SNPs of CaSR, located near the promoters region (rs7652589 and rs1501899).
|
22107799 |
2011 |
|
rs1000597
|
|
|
0.030 |
GeneticVariation |
BEFREE |
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).
|
22396660 |
2012 |
|
rs11746443
|
|
|
0.030 |
GeneticVariation |
BEFREE |
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).
|
22396660 |
2012 |
|
rs4142110
|
|
|
0.030 |
GeneticVariation |
BEFREE |
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).
|
22396660 |
2012 |