Xeroderma Pigmentosum, Complementation Group D
|
|
0.010 |
GeneticVariation
|
BEFREE |
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population.
|
24933103 |
2014 |
West Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study demonstrated that variations in the C3435T gene play an important role in the pathogenesis of infantile spasms in the Han Chinese population; 3435TT is associated with increased risk of having this epilepsy syndrome.
|
22033938 |
2011 |
Vertigo
|
|
0.010 |
GeneticVariation
|
BEFREE |
i) In the experimental mouse model, we observed that brain concentrations of cabergoline were tenfold higher in the mutant mice compared with their wild-type littermates, implying that cabergoline is indeed a substrate of the transporter P-gp at the blood-brain barrier level. ii) In the human study, we observed significant negative associations under cabergoline for the C-carriers and heterozygous CT individuals of SNP rs1045642 with two central side effects (frequency of fatigue and sleep disorders) and for the G-carriers of SNP rs2032582 with the enhancement of dizziness.
|
22672924 |
2012 |
Ventricular Septal Defects
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, fetal 3435 C>T polymorphism in the ABCB1 gene increases the risk for isolated septal defects in the presence of maternal medication use periconceptionally, particularly for perimembranous VSD.
|
24740628 |
2014 |
Venous Thromboembolism
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of this study was to evaluate the association between CYP2C9*2, CYP2C9*3, VKORC1, CYP4F2*3, ABCB1 C3435T, APOE, CYP2C19*2 and CYP2C19*17 gene polymorphisms and treatment safety in 128 patients diagnosed with atrial fibrillation or venous thromboembolism during the initial first seven months of acenocoumarol therapy.
|
24919870 |
2014 |
Unipolar Depression
|
|
0.050 |
GeneticVariation
|
BEFREE |
Association between the functional polymorphism (C3435T) of the gene encoding P-glycoprotein (ABCB1) and major depressive disorder in the Japanese population.
|
22306099 |
2012 |
Unipolar Depression
|
|
0.050 |
GeneticVariation
|
BEFREE |
Our results suggested that C3435T polymorphism in the ABCB1 gene may be an indicator of the susceptibility to major depression, without a likely treatment response to citalopram in a Turkish population.
|
24911075 |
2014 |
Unipolar Depression
|
|
0.050 |
GeneticVariation
|
BEFREE |
Our results indicated that MDR1 variants G2677T and C3435T are not associated with therapeutic response to paroxetine in patients with major depressive disorder.
|
18550244 |
2008 |
Unipolar Depression
|
|
0.050 |
GeneticVariation
|
BEFREE |
Our results show that SERTPR-LL genotype might predispose significantly better paroxetine treatment response compared to SS genotype in MDD patients and that variants G2677T and C3435T are not associated with therapeutic response to paroxetine in patients with major depressive disorder.
|
17914325 |
2007 |
Unipolar Depression
|
|
0.050 |
GeneticVariation
|
BEFREE |
We examined this SNP in patients with major depression enrolled in a randomized antidepressant treatment trial of nortriptyline and fluoxetine, and observed a significant association between nortriptyline-induced postural hypotension and 3435C>T (chi(2) = 6.78, df = 2, P = 0.034).
|
12082591 |
2002 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
While, no remarkable relationship is observed between ABCB1 C3435T polymorphisms and UC.
|
25755800 |
2015 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study was conducted to find a possible reason for the discrepancies, and it was suggested that the age of onset was important for the association, namely, C3435T was predictive of susceptibility to later onset UC, but not for early onset UC.
|
16462040 |
2006 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Allele frequencies and genotype distributions of the C3435T single nucleotide polymorphism were investigated in 149 patients with ulcerative colitis, 126 patients with Crohn's disease, and sex-matched healthy controls.
|
12512026 |
2003 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two polymorphisms (C3435T and G2677T/A) of the multidrug resistance 1 gene have been correlated with the altered P-glycoprotein expression and function in humans, and associated with predisposition to ulcerative colitis and Crohn's disease.
|
16305727 |
2005 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
CTLA-4 gene rs3087243 G > A and rs231775 G > A, and MDR1 gene rs1045642 C > T might confer an increase for UC risk.
|
26379408 |
2015 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-characterized Scottish white cohort (335 with ulcerative colitis [UC], 268 with Crohn's disease [CD], and 370 healthy controls).
|
15685540 |
2005 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We investigated DNA methylation of the MDR1 gene in ulcerative colitis (UC) and its relation to MDR1 C3435T genotypes.Eighty-three UC patients were enrolled.
|
19288029 |
2009 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The analysis showed marginal significant association for the C3435T variant in UC: the risk estimate for the allele contrast was OR = 1.11 (1.00-1.22) and OR(G) = 1.12 (1.01-1.27), indicating that a subject with high mutational load has a 12% higher probability of being diseased.
|
21887726 |
2012 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The current study suggests that CYP2D6*4 and MDR1 3435 C/T gene polymorphisms may be risk factors for UC susceptibility.
|
30551694 |
2018 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The distribution of the different genotypes of single nucleotide polymorphisms (SNP) G2677T/A and C3435T of MDR1 exons 21 and 26, respectively, was studied in 154 patients (mean age, 44 yr) who had received CsA to treat severe attacks of steroid resistant UC in 11 centers in France and Belgium.
|
17206635 |
2007 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Besides, stratified analysis by clinical type also indicated that no significant association between MDR1 C3435T and the risk of Crohn's disease and ulcerative colitis was observed.
|
24449364 |
2014 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
On the other hand, C allele and CC genotype of C1236T and C3435T, as well as G allele and GG genotype of G2677T/A were more frequent in healthy subjects, implying protective role of these variants in UC.
|
29543864 |
2018 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The polymorphism Ala893Ser/Thr (G2677T/A) previously showed significant association with Crohn's disease (CD) and the Ile1145Ile (C3435T) with ulcerative colitis (UC).
|
16374256 |
2006 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C3435T polymorphism of the ABCB1/MDR1 gene is not a risk factor for IBD, including UC and CD, in the population coming from central Poland.
|
22661185 |
2012 |
Ulcerative Colitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Three-marker (C1236T, G2677T/A, C3435T) and two-marker (C1236T, G2677T/A) haplotype analysis revealed significant associations with UC (TTT, P=0.04; TGT, P=0.01; TT, P=0.01; CT, P=0.03).
|
19005421 |
2009 |