rs367825197
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we report the identification of a heterozygous nonsense <i>PODXL</i> mutation (c.C976T; p. Arg326X) in a Chinese pedigree featured by proteinuria and renal insufficiency with AD inheritance by whole exome sequencing (WES).
|
30523047 |
2019 |
rs4149056
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with OATP1B1 521T>C mutant-type carrier had slightly higher trough SDC (0.98 ± 0.53 ng/mL) than those with wild-type carrier (0.74 ± 0.40 ng/mL) when they have repaired renal function.Heart failure patients with severe renal dysfunction (GFR<60 mL/min) and/or OATP1B1 521T>C mutant-type carriers are recommended a smaller dosage of digoxin and strict therapeutic drug monitoring.
|
30946364 |
2019 |
rs121918079
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This case illustrated the clinical and pathologic phenotype of an ATTR amyloidosis patient who initially presented impaired renal function and p.Leu75Pro variant was found by sequencing the coding region of TTR gene.
|
28272196 |
2017 |
rs138207257
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Pro190Leu mutation was reported with impaired renal function at follow-up; however, the p.Gly287Val was presented with normal renal function.
|
27561601 |
2017 |
rs17319721
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Covariate adjustment analysis showed that the variant at rs17319721 in SHROOM3 was an independent risk factor for renal dysfunction after the first month after transplantation (P=0.022).
|
27779570 |
2017 |
rs202047589
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Pro190Leu mutation was reported with impaired renal function at follow-up; however, the p.Gly287Val was presented with normal renal function.
|
27561601 |
2017 |
rs281874657
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The index case had the p.Q379X variant in COL4A5 and currently had renal impairment, (eGFR = 45 ml/min/1.73 m<sup>2</sup>), bilateral hearing loss, and central and peripheral retinopathies.
|
27485810 |
2017 |
rs1800471
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Secondly, we performed a case-control orientated study to determine whether rs1800471 polymorphism and other factors influence the progression of renal impairment.
|
25298263 |
2015 |
rs28933979
|
|
|
0.020 |
GeneticVariation |
BEFREE |
ATTR-V30M patients with FNEs had longer disease duration (OR=1.24; 95% CI 1.07 to 1.43), renal dysfunction (OR=4.65; 95% CI 1.20 to 18.05) and were men (OR=3.57; 95% CI 1.02 to 12.30).
|
25091367 |
2015 |
rs738409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patatin-like phospholipase 3 (PNPLA3) polymorphism rs738409 (c.444C>G) is associated with the risk of NAFLD and/or renal dysfunction; however, the influence of the weight status on the associations remains unknown.
|
26200108 |
2015 |
rs538166970
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, another mutant, R1180P, was compatible with life after transient neonatal renal insufficiency.
|
24163131 |
2014 |
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The T allele at MTHFR C677T was the risk factor for prolonged high MTX concentration (p = 0.009, OR 5.54, 95 % CI 1.54-19.85), but not for renal dysfunction.
|
24241962 |
2013 |
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The MTHFR C677T polymorphism plays a significant role in predisposition of renal insufficiency in diabetic patients.
|
23846111 |
2013 |
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Sign of these predictive effects is opposite: subjects with MTHFR 677C>T polymorphism have lower likelihood of renal insufficiency; differently, wild-type MTHFR genotype subjects have lower GFR and greater hsCRP, iPTH, RRI, and LVH.
|
23534584 |
2013 |
rs1382048442
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The T allele at MTHFR C677T was the risk factor for prolonged high MTX concentration (p = 0.009, OR 5.54, 95 % CI 1.54-19.85), but not for renal dysfunction.
|
24241962 |
2013 |
rs368087026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The T allele at MTHFR C677T was the risk factor for prolonged high MTX concentration (p = 0.009, OR 5.54, 95 % CI 1.54-19.85), but not for renal dysfunction.
|
24241962 |
2013 |
rs7456421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No statistical significance of allele transfer was found, which means that there were no associations between rs7456421 and rs 2030712 SNPs of HIPK2 gene and the incidence of renal dysfunction.
|
23540226 |
2013 |
rs7582694
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case-only meta-analysis of the two cohorts, the STAT4 SNP rs7582694 was associated with severe renal insufficiency with p = 1.6 × 10(-3) and OR 2.22.
|
24386384 |
2013 |
rs1128503
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the CsA patient group (n = 30), age (p = 0.008), hypertension (p = 0.017), renal dysfunction (p < 0.001), ABCB1 C1236T (p < 0.001), and G2677T/A (p = 0.014) were associated with neurotoxicities.
|
20030680 |
2011 |
rs7222094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients having the CC genotype of rs7222094 in SPH experienced more renal and hematological dysfunction (p = 0.003 and p = 0.011), while patients of the VASST cohort with the rs7222094 CC genotype showed the same trend toward more renal dysfunction.
|
21257964 |
2011 |
rs74315289
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
|
21269598 |
2011 |
rs1617640
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our analysis suggests that the risk allele (T) of rs1617640 plays a role in the development of renal dysfunction after cardiac surgery with CPB.
|
21092038 |
2010 |
rs699
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We analyzed single nucleotide polymorphisms (SNPs) associated with cardiovascular pathophysiology (including AGT1R T573C, AGT1R A1166C, and AGT M235T) and presence of renal dysfunction (eGFR<60 ml/min/1.73 m2) or history of CHD.
|
19327134 |
2009 |
rs188942711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The early demonstration of R229Q in individuals with TBMN may indicate those at increased risk of proteinuria and renal impairment.
|
18726620 |
2008 |
rs61747728
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The early demonstration of R229Q in individuals with TBMN may indicate those at increased risk of proteinuria and renal impairment.
|
18726620 |
2008 |