|
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 |
|
rs4362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Influence of angiotensin converting enzyme (<i>ACE</i>) gene rs4362 polymorphism on the progression of kidney failure in patients with autosomal dominant polycystic kidney disease (ADPKD).
|
27748299 |
2016 |
|
rs538166970
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, another mutant, R1180P, was compatible with life after transient neonatal renal insufficiency.
|
24163131 |
2014 |
|
rs867394500
|
|
|
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 |
|
rs4961
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A single-nucleotide polymorphism (Gly460Trp) within the alpha-adducin gene (ADD1) may influence several renal phenotypes, including salt sensitivity, susceptibility to renal failure, the renal haemodynamics and confer a worse cardiovascular risks profile.
|
16612256 |
2006 |
|
rs699
|
|
|
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 |
|
rs3759126
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No correlation was found to exist between the AQP-2 gene polymorphism (rs3759126) and serum electrolyte levels in pre-ESRD patients (p = 0.38 for serum sodium level and p = 0.44 for serum potassium level).
|
17763164 |
2007 |
|
rs121908144
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The functional consequences of p.I12T differ from BSND mutations that cause renal failure and deafness in Bartter syndrome type IV. p.I12T leaves chloride channel function unaffected and only interferes with chaperone function of barttin in intracellular trafficking.
|
19646679 |
2009 |
|
rs1042636
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest that CaR gene polymorphism (codon G990R) influences the responsiveness of the parathyroid gland to changes of extracellular Ca2+ in ESRD patients.
|
11863123 |
2002 |
|
rs151340624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R704X mutation is identical to that found in X-linked recessive nephrolithiasis, but there was no renal failure in our patient.
|
9893114 |
1999 |
|
rs151340626
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.
|
9452997 |
1998 |
|
rs118203979
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with p.G20D homozygous mutation in CLDN19 gene exhibit different progression to kidney failure suggesting that beyond the pathogenic mutation itself, other molecular events are favoring disease progression.
|
30305086 |
2018 |
|
rs188942711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.
|
22228437 |
2012 |
|
rs104886303
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The L1649R mutation in the COL4A5 gene causes a relatively mild form of XLAS characterized by late-onset renal failure and less frequent, severe temporal macular thinning relative to other COL4A5 mutations.
|
23572034 |
2013 |
|
rs1044498
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the extensively studied K121Q variant (rs1044498) did not reveal evidence for association with type 2 diabetic ESRD in this African-American population.
|
18184924 |
2008 |
|
rs4281481
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MYH9 SNPs rs4821480, rs2032487, rs4281481 and rs3752462 are associated with T2DM-ESRD susceptibility in European Americans.
|
21968013 |
2012 |
|
rs11739136
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Common KCNMB1 gain-of-function variant Glu65Lys influences GFR, and 65Lys carriers exhibit not only elevated baseline GFR, but also more rapid GFR decline (and consequent development of renal failure) in CKD.
|
20861615 |
2010 |
|
rs3024912
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the individuals with the GG genotype at rs3024912 SNP may have a higher risk in kidney failure of MGN patients (adjusted odds ratio [OR]=3.255; 95% confidence interval [CI]=1.155-9.176, p=0.026).
|
21740896 |
2011 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Obtained results indicate that C677T polymorphism is not associated with onset, duration and cause of kidney failure in our hemodialysis population.
|
20433440 |
2010 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The methylenetetrahydrofolate reductase 677 C/T genotypes were determined in 174 type 2 diabetic patients: 80 with and 94 without renal failure due to diabetic nephropathy.
|
12784186 |
2003 |
|
rs1217691063
|
|
|
0.080 |
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 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The MTHFR C677T polymorphism plays a significant role in predisposition of renal insufficiency in diabetic patients.
|
23846111 |
2013 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
However, we did not prove the hypothesis that MTHFR 677C --> T influences the risk of development of renal failure in the course of hypertension.
|
16280279 |
2005 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The combined effect of renal failure and a common mutation (C677T) in the methylenetetrahydrofolate reductase gene that leads to serum homocysteine elevations in dialysis patients was investigated.
|
10770966 |
2000 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
While both renal failure and mutations of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene may result in hyperhomocysteinemia and CVD, the distinct roles of the thermolabile MTHFR mutation at nucleotide C677T and the more recently described mutation at nucleotide A1298C have not been evaluated concurrently in patients on hemodialysis.
|
12187094 |
2002 |