rs219780
|
|
|
0.810 |
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 |
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 |
rs12654812
|
|
|
0.740 |
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 |
rs12654812
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The A allele of rs12654812</span> significantly increased the risk of nephrolithiasis co</span>mpared with the G allele after adjusting for age, sex, BMI, smoking, drinking and hypertension (OR = 1.277, 95% CI = 1.013-1.609, P = .038).
|
29577426 |
2018 |
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 |
rs219778
|
|
|
0.710 |
GeneticVariation |
GWASDB |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
|
19561606 |
2009 |
rs219778
|
|
|
0.710 |
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 |
rs219781
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
|
19561606 |
2009 |
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 |
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 |
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 |
rs1501899
|
|
|
0.040 |
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 |
rs1501899
|
|
|
0.040 |
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 |