|
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 |
|
rs1467568
|
|
|
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 |
|
rs1799983
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The endothelial nitric oxide synthase gene G894T, glutathione S-transferase (GSTM1 and GSTT1) polymorphisms as a risk factor in the patient with nephrolithiasis.
|
31445152 |
2019 |
|
rs199690076
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hence examined the frequency of p.Ser192Leu variants in our adult kidney stone cohort and compared the results to clinical findings of previously published cases of both mono- and biallelic p.Ser192Leu changes.
|
30798342 |
2019 |
|
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 |
|
rs367995295
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel nonsense CYP24A1 mutation, p.R223*, was also found heterozygously in other family members with a medical history of nephrolithiasis.
|
31288237 |
2019 |
|
rs3818292
|
|
|
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 |
|
rs17576
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R279Q polymorphism site with regard to the relationship with nephrolithiasis was not significant.
|
28205286 |
2018 |
|
rs1801725
|
|
|
0.010 |
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 |
|
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 |
|
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 |
|
rs307247
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 2 SNPs (rs307247 and rs307248) of the 3' UTR, which were in strong linkage disequilibrium, were found to be significantly associated with kidney stone risk in the population of West Bengal, India.
|
29969593 |
2018 |
|
rs307248
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 2 SNPs (rs307247 and rs307248) of the 3' UTR, which were in strong linkage disequilibrium, were found to be significantly associated with kidney stone risk in the population of West Bengal, India.
|
29969593 |
2018 |
|
rs4236
|
|
|
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 |
|
rs6464214
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HIPK2 polymorphisms rs2058265, rs6464214, and rs7456421 were associated with kidney stone disease in Chinese males not females.
|
29428801 |
2018 |
|
rs7456421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HIPK2 polymorphisms rs2058265, rs6464214, and rs7456421 were associated with kidney stone disease in Chinese males not females.
|
29428801 |
2018 |
|
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 |
|
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 |
|
rs17646069
|
|
|
0.010 |
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 |
|
rs182089527
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study provides genetic evidence that the rs182089527 mutation in PDE1A is involved in the development of NL and kidney cysts, which should help to improve personalized medicine for diagnosis and treatment.
|
29262781 |
2017 |
|
rs4293393
|
|
|
0.010 |
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 |
|
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 |
|
rs184187143
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate that the variant G539R in the SLC26A6 gene is associated with kidney stone risk, providing a clear clue to further achieve insight into oxalate transport in kidney stone formation.
|
26812303 |
2016 |
|
rs755622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CONCLUSIONS These results indicate that the MIF-AS rs755622 polymorphism may have a crucial role in the development of nephrolithiasis.
|
26895959 |
2016 |