rs11887534, ABCG5;ABCG8

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation BEFREE In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126). 29764733 2018
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126). 29764733 2018
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE Among individuals of African American and Hispanic American ancestry, rs11887534 and rs4245791 were associated positively with gallstone disease risk, whereas the association for the rs1260326 variant was inverse. 27094239 2016
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE Our study showed strong association of D19H polymorphism with gallstone disease. 24498041 2014
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation BEFREE In the genotype model, the overall association between genotype with gallstone was significant for D19H (OR = 2.43, 95%CI: 2.23-2.64, P<0.001), and for Y54C (OR = 1.36, 95%CI: 1.01-1.83, P = 0.044), or T400K (OR = 1.17, 95%CI: 0.96-1.43.P = 0.110). 24498041 2014
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 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
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 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
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation BEFREE ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication. 22869156 2013
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE Both gallstone disease and p.D19H of ABCG8 are associated with diminished cholesterol absorption. 23406058 2013
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE ABCG5 rs6756629 is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously associated with gallstone disease risk in populations of European-descent. 24256507 2013
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication. 22869156 2013
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation BEFREE D19H was found to be significantly associated with gallstones (odds ratio [OR] = 2.9, P = 0.0220, 95% confidence interval [CI]:1.22-6.89), particularly in the overweight cohort (OR = 3.2, P = 0.0430, 95% CI:1.07-9.26). 23406058 2013
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs118</span>87534 had higher risk of bi</span>liary 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
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation BEFREE The fraction of all gallstones attributed to D19H was 11%. 21274884 2011
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE In this general population cohort, ABCG8 D19H genotype was an important predictor of both symptomatic gallstone disease and biliary cancer. 21274884 2011
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 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
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE Carriers of the DH genotype and H allele of the ABCG8 D19H polymorphism harbor a higher risk for gallstone susceptibility in the northern Indian population. 21039838 2010
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation BEFREE Carriers of the DH genotype and H allele of the ABCG8 D19H polymorphism harbor a higher risk for gallstone susceptibility in the northern Indian population. 21039838 2010
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE In our study we investigated the contribution of heterozygosity for common variations considered either potentially pathogenic or susceptibility alleles for cholesterol cholelithiasis in adults (c.523A>G (p.Thr175Ala) and c.1954A>G (p.Arg652Gly) in ABCB4, c.1331T>C (p.Val444Ala) in ABCB11 and c.55 G>C (p.Asp19His) in ABCG8) to the aetiology of paediatric idiopathic gallstone disease. 20163776 2010
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE Our study confirms the ABCG8 D19H genotype as a major risk factor for gallstone disease. 20497293 2010
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE A common genetic polymorphism D19H of ABCG8 associated with gallstone disease may be causatively related to the genetic predisposition of GBC. 19018975 2009
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE Carriers of ABCG5 604Q or ABCG8 D19H polymorphisms have an increased risk of gallstone disease independent of age, sex and body mass index. 18457353 2008
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation BEFREE To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS). 17612515 2007