|
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 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure.
|
12644913 |
2003 |
|
rs1801282
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Cox's proportional hazard regression showed that both Pro12Ala and C161T polymorphisms were significant predictors of mortality in ESRD patients with DM (Pro12Ala: GG versus other genotypes, hazard ratio [HR] <0.01; P < 0.001; for C161T, CC versus TT genotypes, HR 2.86; P < 0.001; CT versus TT genotypes, HR 1.93; P < 0.001).
|
25784779 |
2015 |
|
rs1801282
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The PPAR gamma 2 Pro12Ala variant predicts ESRD and mortality in patients with type 1 diabetes and diabetic nephropathy.
|
18467141 |
2008 |
|
rs1805192
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Cox's proportional hazard regression showed that both Pro12Ala and C161T polymorphisms were significant predictors of mortality in ESRD patients with DM (Pro12Ala: GG versus other genotypes, hazard ratio [HR] <0.01; P < 0.001; for C161T, CC versus TT genotypes, HR 2.86; P < 0.001; CT versus TT genotypes, HR 1.93; P < 0.001).
|
25784779 |
2015 |
|
rs1805192
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The PPAR gamma 2 Pro12Ala variant predicts ESRD and mortality in patients with type 1 diabetes and diabetic nephropathy.
|
18467141 |
2008 |
|
rs2032487
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Contrasting the 751 T2DM-ESRD cases with 227 T2DM non-nephropathy controls revealed that E1 haplotype SNPs rs4821480, rs2032487 and rs4821481 were associated with kidney failure (OR 1.38-1.40 recessive, all P < 0.048).
|
19567477 |
2009 |
|
rs2032487
|
|
|
0.020 |
GeneticVariation |
BEFREE |
MYH9 SNPs rs4821480, rs2032487, rs4281481 and rs3752462 are associated with T2DM-ESRD susceptibility in European Americans.
|
21968013 |
2012 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs188942711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.
|
22228437 |
2012 |
|
rs200640958
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two synonymous NPHS1 polymorphisms, rs2285450 (c.294C>T) and rs437168 (c.2289C>T) segregated with renal failure in this family.
|
26147534 |
2015 |