rs904520404
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|
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0.010 |
GeneticVariation |
BEFREE |
This condition is a renal-hepatic ciliopathy with phenotypic characteristics that include hepatosplenomegaly, hepatic fibrosis with bile cholestasis, increased kidney echogenicity, and end-stage renal disease.Here, we report a 13-year-old African-Caribbean female with areas of absence of heterozygosity suggesting parental consanguinity or identity by decent due to the founder effect, harboring a novel homozygous pathogenic variant (c.383C>G, p.S128*) in exon 3 of DCDC2.
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31821705 |
2020 |
rs12513649
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|
|
0.010 |
GeneticVariation |
BEFREE |
CREBRF rs12513649 and rs373863828 were genotyped in 2022 participants in a community-based cross-sectional study designed to identify determinants of diabetes and end-stage renal disease (ESRD).
|
31280340 |
2019 |
rs1801239
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|
|
0.010 |
GeneticVariation |
BEFREE |
The CUBN CC or C-risk-allele of rs1801239 was associated with ESRD (OR 2.04 [1.07-3.87], p = 0.03) and peripheral artery disease (OR 2.08 [1.12-3.88], p = 0.021).
|
30557881 |
2019 |
rs373863828
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|
|
0.010 |
GeneticVariation |
BEFREE |
CREBRF rs12513649 and rs373863828 were genotyped in 2022 participants in a community-based cross-sectional study designed to identify determinants of diabetes and end-stage renal disease (ESRD).
|
31280340 |
2019 |
rs373971520
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|
|
0.010 |
GeneticVariation |
BEFREE |
A second variant at GNG7 (rs373971520; P = 2.17 × 10<sup>-8</sup>, OR = 1.46) remained associated with all-cause ESKD in the APOL1-negative analysis.
|
31092297 |
2019 |
rs77113398
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|
|
0.010 |
GeneticVariation |
BEFREE |
Following extension analyses in 1910 non-diabetic ESKD cases and 908 non-diabetic non-nephropathy controls, a meta-analysis of 5342 AA all-cause ESKD cases and 6977 AA non-diabetic non-nephropathy controls revealed an additional novel all-cause ESKD locus at EFNB2 (rs77113398; P = 9.84 × 10<sup>-9</sup>; OR = 1.94).
|
31092297 |
2019 |
rs926632
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|
|
0.010 |
GeneticVariation |
BEFREE |
The minor allele of rs260741, rs197173, and rs926632 in EDN3 were associated with reduced risk of hospitalized bacteremia events in ESRD patients.
|
31167651 |
2019 |
rs9395890
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|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings indicate that rs9395890 is associated with susceptibility to ESRD in Taiwan population.
|
31382928 |
2019 |
rs11089781
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|
|
0.010 |
GeneticVariation |
BEFREE |
Stratifying by APOL1 risk genotype (recessive) and adjusting for African ancestry identified a significant additive association between rs11089781 and ESKD in each stratum and in a meta-analysis [meta-analysis P = 0.0070; odds ratio (OR) = 1.29]; ORs were consistent across APOL1 risk strata.
|
28339911 |
2018 |
rs11643718
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|
0.010 |
GeneticVariation |
BEFREE |
The SLC12A3-Arg913Gln variation may be associated with increased blood pressure and UAER and, therefore, could be used to predict the development and progression of DN-ESRD in Chinese T2DM patients undergoing hemodialysis.
|
28744814 |
2018 |
rs1544410
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|
0.010 |
GeneticVariation |
BEFREE |
In subgroup analysis by ethnicity for VDR rs1544410 gene polymorphism, we found significant differences under dominant model (SMD: -0.18 [-0.32, -0.05], P < .01) and AA versus GG comparison (SMD: -0.29 [-0.52, -0.06], P < .01) in Asian patients with ESRD, while nominally significant results (P < .05) were observed for AG versus GG and AA versus GG comparisons in European individuals with ESRD.
|
29794776 |
2018 |
rs17173608
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0.010 |
GeneticVariation |
BEFREE |
We found that the G allele of chemerin rs17173608 compared to T allele decreased the risk of ESRD, and there was a significant association between chemerin and vaspin variants with plasma MDA level in a sample of the Iranian population.
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29644922 |
2018 |
rs1801725
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0.010 |
GeneticVariation |
BEFREE |
We conducted meta-analyses for calcium-sensing receptor gene (CaSR) rs1801725 polymorphism in patients with primary hyperparathyroidism and vitamin D receptor gene (VDR) rs1544410 polymorphism in patients with end-stage renal disease (ESRD).
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29794776 |
2018 |
rs2236242
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|
|
0.010 |
GeneticVariation |
BEFREE |
Chemerin rs17173608 and vaspin rs2236242 gene variants on the risk of end stage renal disease (ESRD) and correlation with plasma malondialdehyde (MDA) level.
|
29644922 |
2018 |
rs267607183
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|
|
0.010 |
GeneticVariation |
BEFREE |
The second mutation (p.Arg218Gln) was found in two brothers with ESRD of unknown etiology.
|
30126379 |
2018 |
rs28935197
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|
|
0.010 |
GeneticVariation |
BEFREE |
An atypical p.N215S variant of Fabry disease with end-stage renal failure.
|
30023289 |
2018 |
rs75444904
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|
0.010 |
GeneticVariation |
BEFREE |
In an additional validation-cohort of EA (410 end-stage renal disease (ESRD) cases and 1308 controls), rs75444904 was associated with ESRD (OR = 1.22, P = 0.036).
|
29572449 |
2018 |
rs7708392
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|
0.010 |
GeneticVariation |
BEFREE |
TNIP1 SNP (rs7708392) might be used to identify patients at risk of developing LN, which could help in early detection and treatment before progression to end-stage renal disease, improving patients' outcome and quality of life.
|
29589214 |
2018 |
rs183962941
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|
|
0.010 |
GeneticVariation |
BEFREE |
One SNP (rs183962941), located in a non-coding region of UMOD, was nominally associated with ESRD (p = 0.008).
|
28609449 |
2017 |
rs4714384
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|
|
0.010 |
GeneticVariation |
BEFREE |
EDN1 rs4714384 is very likely an important biomarker of CV events in ESRD patients.
|
28882114 |
2017 |
rs74315342
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|
|
0.010 |
GeneticVariation |
BEFREE |
The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease.
|
29049388 |
2017 |
rs1049255
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|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggested that rs1049255 polymorphism of CYBA modified the risk of ESRD (p = 0.019; OR = 0.625; 95%CI = 0.424-0.921).
|
26627442 |
2016 |
rs10951982
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|
|
0.010 |
GeneticVariation |
BEFREE |
The other three SNPs (rs10951982, rs6954996, and rs9374), in all comparison models, were not associated with ESRD risk (P > 0.05).
|
26841219 |
2016 |
rs13333226
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|
|
0.010 |
GeneticVariation |
BEFREE |
A common variation rs13333226 in the promoter region of UMOD gene was independently associated with ESRD in Han Chinese.
|
27938332 |
2016 |
rs2232365
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|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, multifactor dimension reduction analysis suggested an increased risks of nearly 6-folds for ESRD and 23-folds for ARE cases under the six factors model which consists of tag-SNPs of FOXP3 (rs2232365, rs3761548, rs5902434 and rs2294021) and NF-kB1 (rs28362491 and rs696).
|
26794449 |
2016 |