|
rs1000597
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We selected seven single-nucleotide polymorphisms (SNPs): rs12654812 and rs11746443 from 5q35.3 (RGS14-SLC34A1-PFN3-F12); rs12669187 and rs1000597 from 7p14.3 (INMT-FAM188B-AQP1); and rs7981733, rs1170155, and rs4142110 from 13q14.1 (DGKH (diacylglycerol kinase)), which were previously reported to be significantly associated with nephrolithiasis. rs12654812, rs12669187 and rs7981733 were significantly associated with nephrolithiasis after Bonferroni's correction (P=3.12 × 10(-3), odds ratio (OR)=1.43; P=6.40 × 10(-3), OR=1.57; and P=5.00 × 10(-3), OR=1.41, respectively).
|
23719187 |
2013 |
|
rs1000597
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis.
|
28361944 |
2017 |
|
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 |
|
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 |
|
rs1042138
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Altogether, present study indicated that the rs1042138 might not be used as a useful marker for susceptibility of kidney stone formation, whereas, the rs1801197 could definitely be considered as one of the risk factors for KSD in Indian population at least in West Bengal in particular.
|
28435134 |
2017 |
|
rs1042636
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Activating rs1042636 polymorphism located in exon 7 was associated with calcium nephrolithiasis and hypercalciuria.
|
30446806 |
2019 |
|
rs1042636
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We conclude that the simultaneous presence of the minor allele at rs1501899 and Arg990Gly may amplify the kidney stone risk in PHPT patients, despite their apparently opposite effects on CASR function in the kidney.
|
24832896 |
2015 |
|
rs1042636
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The activating Arg990Gly polymorphism may predispose to nephrolithiasis by increasing calcium excretion.
|
22660550 |
2012 |
|
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 |
|
rs1042636
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In conclusion, rs1801725, rs1042636, rs219778 and rs219780 SNPs were associated with kidney stone risk in patients from the eastern part of India.
|
26107257 |
2015 |
|
rs1042636
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our results provide evidences that the CaSR Arg990Gly polymorphism is associated with the risk of nephrolithiasis development in a Chinese population.
|
28609763 |
2017 |
|
rs10509291
|
|
|
0.010 |
GeneticVariation |
BEFREE |
And a total of 430 Eastern Chinese subjects (215 patients with nephrolithiasis and 215 age- and gender-matched controls) were recruited for the present study to investigate the associations between 6 common single nucleotide polymorphisms (SNPs) (i.e., rs10509291, rs3740051, rs932658, rs33957861, rs3818292 and rs1467568) in the SIRT1 gene and the incidence of kidney stones.
|
30714469 |
2019 |
|
rs10735810
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results demonstrated that there was no association found between the three SNPs (rs731236, rs7975232 and rs10735810) in the VDR gene and nephrolithiasis, whether in allele or genotype distribution.
|
29549381 |
2019 |
|
rs114234874
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, our data indicate that recurrent stone formers with the vacuolar H(+)-ATPase B1 subunit p.E161K SNP exhibit a urinary acidification deficit with an increased prevalence of calcium phosphate-containing kidney stones.
|
26453614 |
2016 |
|
rs1168879812
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Focusing our analysis on coding sequence variants in 63 genes with preferential kidney expression we identify two rare missense variants SLC34A1 p.Tyr489Cys (OR=2.38, P=2.8 × 10(-5)) and TRPV5 p.Leu530Arg (OR=3.62, P=4.1 × 10(-5)) associating with recurrent kidney stones.
|
26272126 |
2015 |
|
rs1170155
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We selected seven single-nucleotide polymorphisms (SNPs): rs12654812 and rs11746443 from 5q35.3 (RGS14-SLC34A1-PFN3-F12); rs12669187 and rs1000597 from 7p14.3 (INMT-FAM188B-AQP1); and rs7981733, rs1170155, and rs4142110 from 13q14.1 (DGKH (diacylglycerol kinase)), which were previously reported to be significantly associated with nephrolithiasis. rs12654812, rs12669187 and rs7981733 were significantly associated with nephrolithiasis after Bonferroni's correction (P=3.12 × 10(-3), odds ratio (OR)=1.43; P=6.40 × 10(-3), OR=1.57; and P=5.00 × 10(-3), OR=1.41, respectively).
|
23719187 |
2013 |
|
rs11746443
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We selected seven single-nucleotide polymorphisms (SNPs): rs12654812 and rs11746443 from 5q35.3 (RGS14-SLC34A1-PFN3-F12); rs12669187 and rs1000597 from 7p14.3 (INMT-FAM188B-AQP1); and rs7981733, rs1170155, and rs4142110 from 13q14.1 (DGKH (diacylglycerol kinase)), which were previously reported to be significantly associated with nephrolithiasis. rs12654812, rs12669187 and rs7981733 were significantly associated with nephrolithiasis after Bonferroni's correction (P=3.12 × 10(-3), odds ratio (OR)=1.43; P=6.40 × 10(-3), OR=1.57; and P=5.00 × 10(-3), OR=1.41, respectively).
|
23719187 |
2013 |
|
rs11746443
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis.
|
28361944 |
2017 |
|
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 |
|
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 |
|
rs1256328
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The ALPL SNP, rs1256328, was identified as being significantly associated with kidney stone disease status in a large Chinese Han cohort.
|
29489416 |
2018 |
|
rs1256328
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In summary, this study successfully validated the genetic roles of rs1256328 and rs12654812 in human nephrolithiasis.
|
31754202 |
2019 |
|
rs1256328
|
|
T |
0.720 |
GeneticVariation |
GWASCAT |
Common and rare variants associated with kidney stones and biochemical traits.
|
26272126 |
2015 |
|
rs12654812
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis.
|
28361944 |
2017 |
|
rs12654812
|
|
|
0.740 |
GeneticVariation |
BEFREE |
In addition, subjects carrying the minor AA genotype at rs12654812 (regulator of G protein signaling 14 (RGS14)) have higher susceptibility to nephrolithiasis (OR = 1.91, p = 0.0017).
|
31754202 |
2019 |