rs11887534, ABCG5;ABCG8

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.010 GeneticVariation BEFREE No significant association was found between the D19H polymorphism and the risk of diabetic nephropathy. 25804128 2015
Low phospholipid-associated cholelithiasis
0.010 GeneticVariation BEFREE Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional family members). 24914347 2014
Cholangiocarcinoma
CUI: C0206698
Disease: Cholangiocarcinoma
0.010 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971 2011
Bile duct carcinoma
CUI: C0740277
Disease: Bile duct carcinoma
0.010 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971 2011
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy. 20592455 2010
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy. 20592455 2010
Familial hypercholesterolemia - heterozygous
0.010 GeneticVariation BEFREE Therefore, we examined associations between the D19H and T400K polymorphisms in the ABCG8 gene and CVD in a large cohort study of 2012 patients with heterozygous familial hypercholesterolemia (FH). 18977479 2009
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.010 GeneticVariation BEFREE Low serum cholesterol and cholesterol absorption were linked to the D19H polymorphism of the ABCG8 gene, and characteristics of the insulin resistance syndrome in men were linked with the Q604E polymorphism of the ABCG5 gene. 15175352 2004
Insulin resistance syndrome
CUI: C3714619
Disease: Insulin resistance syndrome
0.010 GeneticVariation BEFREE Low serum cholesterol and cholesterol absorption were linked to the D19H polymorphism of the ABCG8 gene, and characteristics of the insulin resistance syndrome in men were linked with the Q604E polymorphism of the ABCG5 gene. 15175352 2004
Gerstmann-Straussler-Scheinker Disease
0.020 GeneticVariation BEFREE We consistently replicated the association of ABCG8 gene with GSD (rs11887534, P = 3.24 × 10<sup>-8</sup>, OR = 1.74) and identified TRAF3 (rs12882491, P = 1.11 × 10<sup>-7</sup>, OR = 1.40) as a novel candidate gene for the disease in admixed Chilean Latinos. 30692554 2019
Massive Osteolyses
CUI: C0029438
Disease: Massive Osteolyses
0.020 GeneticVariation BEFREE We consistently replicated the association of ABCG8 gene with GSD (rs11887534, P = 3.24 × 10<sup>-8</sup>, OR = 1.74) and identified TRAF3 (rs12882491, P = 1.11 × 10<sup>-7</sup>, OR = 1.40) as a novel candidate gene for the disease in admixed Chilean Latinos. 30692554 2019
Malignant neoplasm of gallbladder
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971 2011
Biliary Tract Cancer
CUI: C0750952
Disease: Biliary Tract Cancer
0.020 GeneticVariation BEFREE Our findings suggest that ABCG8 rs11887534, identified as a gallstone risk single-nucleotide polymorphism by whole genome scan, is also associated with an increased risk of biliary tract cancer. 21062971 2011
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971 2011
Stage IIB Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971 2011
Biliary Tract Cancer
CUI: C0750952
Disease: Biliary Tract Cancer
0.020 GeneticVariation BEFREE In this general population cohort, ABCG8 D19H genotype was an important predictor of both symptomatic gallstone disease and biliary cancer. 21274884 2011
Stage 0 Gallbladder Cancer AJCC v8
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971 2011
Stage IIA Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971 2011
Stage III Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971 2011
Stage IV Gallbladder Cancer AJCC v8
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971 2011
Gerstmann-Straussler-Scheinker Disease
0.020 GeneticVariation BEFREE SNP D19H, but not SNP T400K, in the ABCG8 gene is significantly associated with GSD in an Indian population. 20594224 2010
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.020 GeneticVariation BEFREE Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy. 20592455 2010
Massive Osteolyses
CUI: C0029438
Disease: Massive Osteolyses
0.020 GeneticVariation BEFREE SNP D19H, but not SNP T400K, in the ABCG8 gene is significantly associated with GSD in an Indian population. 20594224 2010
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.020 GeneticVariation BEFREE In a Cox proportional hazard regression model adjusted for relevant cardiovascular risk factors, the D19H polymorphism was not associated with total CVD risk (p=0.2), but there was evidence of an association with higher risk of CHD (RR 1.42, CI 1.04-1.95; p=0.03). 18977479 2009
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.020 GeneticVariation BEFREE In a Cox proportional hazard regression model adjusted for relevant cardiovascular risk factors, the D19H polymorphism was not associated with total CVD risk (p=0.2), but there was evidence of an association with higher risk of CHD (RR 1.42, CI 1.04-1.95; p=0.03). 18977479 2009