Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2032582
rs2032582
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE Our results suggest that the ABCB1 G2677T and C3435T sequence variations may affect susceptibility to acute leukemia. 27706688

2016

dbSNP: rs2032582
rs2032582
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE Three single nucleotide polymorphisms (SNPs) of the ABCB1 gene (rs 3213619 T129C, rs 2032582 G2677T and rs1045642 C3435T) were analysed in 70 Saudi children with ALL and 60 control subjects. 30508724

2019

dbSNP: rs2032582
rs2032582
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE In the subgroup analysis, according to the type of leukemia, significant association was found between MDR1 G2677T polymorphism and myeloid leukemia but not lymphoblastic leukemia (TT vs. GG: OR = 0.66, 95% CI = 0.46-0.95, P = 0.026; TT vs. 24142546

2014

dbSNP: rs2032582
rs2032582
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE To investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients. 18243305

2008

dbSNP: rs2032582
rs2032582
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.010 GeneticVariation BEFREE Impact of ABCB1 single nucleotide polymorphisms 1236C>T and 2677G>T on overall survival in FLT3 wild-type de novo AML patients with normal karyotype. 25155901

2014

dbSNP: rs2032582
rs2032582
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain
0.010 GeneticVariation BEFREE Assays of plasma concentrations of morphine and metabolites (morphine 3-glucuronide and morphine 6-glucuronide) were performed and common polymorphisms in four candidate genes [OPRM1 A118G rs1799971; P-glycoprotein (ABCB1) T3435C (rs1045642) and G2677T/A (rs2032582); COMT Val 158 Met (rs4680)] were analysed.Morphine was titrated by staff in the postanaesthesia care unit (PACU) and in the ward patient-controlled intravenous analgesia was used for 24 h. 29474345

2018

dbSNP: rs2032582
rs2032582
CUI: C0392156
Disease: Akathisia
Akathisia
0.020 GeneticVariation BEFREE The results suggest that individuals with the TT-TT/TA genotypes for the C3435T-G2677T/A polymorphisms of ABCB1 may be pre-disposed to a risk of akathisia. 28079463

2017

dbSNP: rs2032582
rs2032582
CUI: C0392156
Disease: Akathisia
Akathisia
0.020 GeneticVariation BEFREE Marginal associations with akathisia (p=0.039 and p=0.042, respectively) and dystonia (p=0.013 and p=0.034, respectively) were observed for both G2677T/A and C3435T genotypes. 20060871

2010

dbSNP: rs2032582
rs2032582
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 GeneticVariation BEFREE Our results suggest that the ABCB1 3435C > T SNP, the 2677G > T/A SNP and 1236T/2677T/3435C haplotype are significantly associated with AD susceptibility. 27600024

2016

dbSNP: rs2032582
rs2032582
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 GeneticVariation BEFREE To evaluate the association of ATP-binding cassette subfamily B member 1 (ABCB1) genetic variants with the susceptibility to Alzheimer's disease (AD), we genotyped the rs1128503 (C1236T), rs2032582 (G2677T/A), and rs1045642 (C3435T) polymorphisms in a case-control sample (234 AD patients, 225 controls). 25273678

2014

dbSNP: rs2032582
rs2032582
CUI: C0002871
Disease: Anemia
Anemia
0.010 GeneticVariation BEFREE On evaluating higher order gene-gene interaction models by MDR analysis, CYP3A5*3; ABCB11236C>T and ABCB1 2677G>T/A; ABCB1 3435C>T and CYP1B1*3 showed significant association with treatment response, grade 2-4 anemia and dose delay/reduction due to neutropenia (P=0.024, P=0.004, P=0.026), respectively. 24704000

2014

dbSNP: rs2032582
rs2032582
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.010 GeneticVariation BEFREE ABCB1 gene rs2032582 and rs1128503 polymorphisms may be associated with the efficacy of etanercept in AS patients. 28151874

2017

dbSNP: rs2032582
rs2032582
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.010 GeneticVariation BEFREE This study investigated the relationship between genetic polymorphism in the MDR1 (C3435T, G2677T) and the development of steroid-induced osteonecrosis of femoral head (ONF) in Chinese systemic lupus erythematosus (SLE) patients. 18214345

2007

dbSNP: rs2032582
rs2032582
CUI: C0004698
Disease: Balkan Nephropathy
Balkan Nephropathy
0.010 GeneticVariation BEFREE The constitutional genotype frequencies of two SNPs (C3435T and G2677T) in the MDR1 gene in 112 healthy control subjects were investigated and compared with those of 96 patients with BEN. 14752243

2004

dbSNP: rs2032582
rs2032582
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.010 GeneticVariation BEFREE The CC-GG binary genotype for C1236T-G2677T/A loci couple in particular may have a high degree of predisposition to BD (p=0.009; OR, 3.03; 95% CI, 1.41-6.54). 22705826

2012

dbSNP: rs2032582
rs2032582
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE These results suggest that ABCB1 gene C3435T, G2677T/A variations and haplotype 3435T-1236T-2677T relate to the risk and clinical outcomes of breast carcinoma and may function as candidate molecular markers of anthracycline chemosensitivity in breast carcinoma. 22526155

2012

dbSNP: rs2032582
rs2032582
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE Significant associations of rs2032582 SNP with tumor size, negative HER-2/neu status, and family history of breast carcinoma were found. 23093106

2012

dbSNP: rs2032582
rs2032582
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE The results of our quantitative synthesis suggest that there is no significant association between ABCB1 G2677T/A polymorphism and breast cancer risk in overall comparisons under four genetic models (heterozygote: OR = 1.01, 95% CI = 0.92-1.09, P = 0.90; homozygote: OR = 1.01, 95% CI = 0.65-1.55, P = 0.97; recessive model: OR = 1.06, 95% CI = 0.75-1.50, P = 0.76; and dominant model: OR = 0.98, 95% CI = 0.77-1.24, P = 0.85). 31679234

2019

dbSNP: rs2032582
rs2032582
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE Whether ABCB1 polymorphisms including T-129C, A61G, C1236T, G2677T/A and C3435T polymorphisms could account for variations in the disposition of docetaxel and whether menopausal status at the time of diagnosis might interact with this effect were analysed in women receiving neoadjuvant chemotherapy for breast cancer (n=86). 20628376

2010

dbSNP: rs2032582
rs2032582
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.020 GeneticVariation BEFREE The results of the present study indicate that the G2677T/A polymorphism in the ABCB1 gene may affect the risk of developing BP. 28207188

2017

dbSNP: rs2032582
rs2032582
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.020 GeneticVariation BEFREE Haplotypes of ABCB1 1236C >T (rs1128503), 2677G >T/A (rs2032582), and 3435C >T (rs1045642) in patients with bullous pemphigoid. 29948283

2018

dbSNP: rs2032582
rs2032582
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 GeneticVariation BEFREE The rs1799971 and rs1323040 polymorphisms of the <i>OPRM1</i> gene and rs2032582 and rs1128503 polymorphisms of the <i>ABCB1</i> gene are related to the analgesic effect and consumed dose of sufentanil in Chinese Han patients undergoing radical operation of lung cancer. 30455395

2019

dbSNP: rs2032582
rs2032582
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 GeneticVariation BEFREE The current results taken together suggest that, aside from other known causes of lung cancer, such as tobacco smoke, the existence of polymorphisms in the ABCB1 gene and, specifically, the presence of the G2677T mutation can be crucial in conferring susceptibility to lung cancer. 17120199

2006

dbSNP: rs2032582
rs2032582
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE Genetic polymorphisms such as ERCC1 8092C>A, ABCB1 2677G>T/A, GSTP1 I105V and GSTT1 polymorphisms may affect drug response, toxicity and survival in patient with EOC who received taxane- and platinum-based chemotherapy after surgery. 19203783

2009

dbSNP: rs2032582
rs2032582
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE Our study represents the largest analysis of ABCB1 SNPs and EOC progression and survival to date, but has not identified additional signals, or validated reported associations with progression-free survival for rs1128503, rs2032582, and rs1045642. 23917080

2013