|
rs7652589
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients.
|
27739473 |
2016 |
|
rs7652589
|
|
|
0.060 |
GeneticVariation |
BEFREE |
CASR rs7652589_rs1801725 AG haplotype was 1.5-fold more frequent in nephrolithiasis-related ESRD than the GG haplotype (P = 0.004).
|
29763933 |
2018 |
|
rs7652589
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Arg990Gly is located on exon 7 and produces a gain of the CaSR function. rs7652589 and rs1501899 were also associated with nephrolithiasis in patients with normal citrate excretion.
|
22660550 |
2012 |
|
rs7652589
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Epidemiological studies observed that calcium nephrolithiasis was associated with polymorphisms of the CaSR gene regulatory region, rs6776158, located within the promoter-1, rs1501899 located in the intron 1, and rs7652589 in the 5'-untranslated region.
|
30446806 |
2019 |
|
rs7652589
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our study showed that CaSR rs7652589 polymorphism had a significant effect on the risk of developing calcium nephrolithiasis in the population of Yi nationality in Southwestern China.
|
29682741 |
2018 |
|
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 |
|
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 |
|
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 |
|
rs2430692
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With adjustments applied for sex, age and 24-h urinary volume and calcium excretion, the odds of having prevalent nephrolithiasis [n = 144 (8.2%)] associated with dp-ucMGP was 1.31 [95% confidence interval (CI) 1.04-1.64; P = 0.022]. dp-ucMGP levels were associated (P ≤ 0.001) with MGP variants rs2098435, rs4236 and rs2430692.
|
28340119 |
2018 |
|
rs2231142
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ABCG2 SNP rs2231142 and the gout comorbidities including nephrolithiasis and CKD were associated (<i>P</i> = 0.014 and <i>P</i> = 0.026).
|
31367212 |
2019 |
|
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 |
|
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 |
|
rs752977102
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a novel APRT mutation (chr16:88877985 G / C; c.195 C>/G; p.His54Asp) presenting with CKD without nephrolithiasis.
|
30106368 |
2018 |
|
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 |
|
rs2098435
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With adjustments applied for sex, age and 24-h urinary volume and calcium excretion, the odds of having prevalent nephrolithiasis [n = 144 (8.2%)] associated with dp-ucMGP was 1.31 [95% confidence interval (CI) 1.04-1.64; P = 0.022]. dp-ucMGP levels were associated (P ≤ 0.001) with MGP variants rs2098435, rs4236 and rs2430692.
|
28340119 |
2018 |
|
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 |
|
rs7627468
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Common and rare variants associated with kidney stones and biochemical traits.
|
26272126 |
2015 |
|
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 |