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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 |
|
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 |
|
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 |
|
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 |
|
rs12026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the relationship between variation at the C311S and A148G polymorphisms (together with PON2 intronic variant rs12704795) and indices of renal dysfunction (progression to micro- and macroalbuminuria, plasma creatinine increases) in 3,374 newly diagnosed type 2 diabetic subjects from the UK Prospective Diabetes Study followed prospectively (median 14.0 years), using proportional hazards models, adjusted for sex, ethnicity and other known or putative risk factors.
|
17096118 |
2006 |
|
rs12704795
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the relationship between variation at the C311S and A148G polymorphisms (together with PON2 intronic variant rs12704795) and indices of renal dysfunction (progression to micro- and macroalbuminuria, plasma creatinine increases) in 3,374 newly diagnosed type 2 diabetic subjects from the UK Prospective Diabetes Study followed prospectively (median 14.0 years), using proportional hazards models, adjusted for sex, ethnicity and other known or putative risk factors.
|
17096118 |
2006 |
|
rs34557412
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration.
|
16630947 |
2006 |
|
rs696217
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Leu72Met polymorphism was also associated with serum total cholesterol levels in diabetic nephropathy patients with renal</span> dysfunction; the 72Met carriers had lower total cholesterol levels than the 72Met non-carriers (P < 0.05).
|
16793966 |
2006 |
|
rs7493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the relationship between variation at the C311S and A148G polymorphisms (together with PON2 intronic variant rs12704795) and indices of renal dysfunction (progression to micro- and macroalbuminuria, plasma creatinine increases) in 3,374 newly diagnosed type 2 diabetic subjects from the UK Prospective Diabetes Study followed prospectively (median 14.0 years), using proportional hazards models, adjusted for sex, ethnicity and other known or putative risk factors.
|
17096118 |
2006 |
|
rs1267969615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (ACE) insertion/deletion (I/D), angiotensin II type 1 receptor (AT1R) A1166C, aldosterone syntase (CYP11B2) -344C/T and intron 2 W/C polymorphisms in conjunction with clinical and biochemical covariables on the rate of progression of renal insufficiency in a group of patients with ESRD of various etiologies.
|
12832734 |
2003 |