rs2231137, ABCG2

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
0.700 GeneticVariation CLINVAR
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.030 GeneticVariation BEFREE Cox proportional hazards analyses demonstrated that the GG genotype of <i>ABCG2</i> rs2231137 and <i>NCF4</i> rs1883112 were risk factors in DLBCL patients. 28938556 2017
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.030 GeneticVariation BEFREE No differences were observed according to ABCG2 Q141K and V12M genotype in patient characteristics, disease characteristics, response, survival, or hematology toxicity profiles in patients with DLBCL who received frontline R-CHOP chemotherapy. 19032367 2008
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.030 GeneticVariation BEFREE These results suggest that the BCRP G34A and C421A polymorphisms are associated with the risk and survival of DLBCL. 17494054 2007
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE Our findings identified the rs2231137C > T and rs2231142G > T polymorphisms of the ABCG<sub>2</sub> as risk factors for ischemic stroke in a Chinese population. 29900524 2018
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE The Val12Met SNP in ABCG2 (encoding a transporter of sterols and xenobiotics) was associated with incident ischemic stroke in white and black participants of CHS. 19023099 2009
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.010 GeneticVariation BEFREE The contribution of <i>ABCG2</i> G34A and C421A polymorphisms to multiple myeloma susceptibility. 30881020 2019
Skin toxicity
CUI: C1167791
Disease: Skin toxicity
0.010 GeneticVariation BEFREE While the ABCG2 C421A polymorphism might not be a reliable marker of gefitinib-related toxicity, the ABCG2 G34A genotype may be predictive of the skin toxicity of gefitinib in NSCLC patients. 29440914 2018
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE However, more reliable data are required to confirm the associations between the ABCG2 C421A and ABCG2 G34A polymorphisms and the toxicity of gefitinib in NSCLC patients. 29440914 2018
Diarrhea
CUI: C0011991
Disease: Diarrhea
0.010 GeneticVariation BEFREE ABCG2 34G>A was associated with a threefold increased risk of irinotecan-induced diarrhea (95% CI: 1.00-6.24; p = 0.05). 27269636 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE In a three-way analysis, both ABCB1/rs1045642 and ABCG2/rs2231137 in combination with IL10/rs3024505 interacted with fiber intake in relation to risk of CRC (P(int) = 0.0007 and 0.009). 26109419 2015
Gout
CUI: C0018099
Disease: Gout
0.010 GeneticVariation BEFREE The A allele frequency for V12M was lower (18.3%) in the gout patients than in the controls (29%) (OR 0.55, 95% CI 0.43-0.71, p=2.55×10⁻⁶). 24857923 2014
Heart Septal Defects
CUI: C0018816
Disease: Heart Septal Defects
0.010 GeneticVariation BEFREE In conclusion, 34G>A polymorphism in the ABCG2 gene of the children is associated with isolated septal defects in a Han Chinese population, presumably through regulation of BCRP expression in the placenta. 24979295 2014
gout tophaceous
CUI: C0744466
Disease: gout tophaceous
0.010 GeneticVariation BEFREE The missense variations V12M (C) and Q141K (T) significantly associated with tophaceous gout (p trend=4.08×10(-2), 9.00×10(-12) in Han; 1.81×10(-3), 9.34×10(-10) in Aborigines). 24532835 2014
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.010 GeneticVariation BEFREE The Val12Met SNP in ABCG2 was associated with stroke in both white (hazard ratio, 1.46; 90% CI, 1.05 to 2.03) and black (hazard ratio, 3.59; 90% CI, 1.11 to 11.6) participants of CHS. 19023099 2009
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.010 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