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rs11887534, a SNP in the hepatic cholesterol transporter ABCG8 gene, has been implicated in gallstone disease, a process known formally as cholelithiasis. The common allele, rs11887534(G), encodes the aspartic acid (D), while the minor (C) allele encodes histidine (H).
In a study of ~1,000 German patients, the overall odds ratio associated with rs11887534(C) carriers was 2.2 (CI: 1.8-2.6, p=1.4x10-14), and for (C;C) homozygotes, 7x. Up to 10% of the population attributable risk for gallstones may be accounted for by this SNP.[PMID 17632509]
[PMID 20592455] Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy
[PMID 21062971] Cholesterol Metabolism Gene Polymorphisms and the Risk of Biliary Tract Cancers and Stones: A Population-Based Case-Control Study in Shanghai, China
|Disease||Gallbladder disease 4|
|CLNDBN||Gallbladder disease 4|
|CLNSRC||ClinVar OMIM Allelic Variant|
[PMID 15996216] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
[PMID 16507104] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 19005228] The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.
[PMID 19018975] Single nucleotide polymorphism in the ABCG8 transporter gene is associated with gallbladder cancer susceptibility.
[PMID 19060906] Common variants at 30 loci contribute to polygenic dyslipidemia.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19822575] Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.
[PMID 21039838] Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India.
[PMID 21285406] Low-density lipoprotein cholesterol and the risk of cancer: a mendelian randomization study.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 24256507] Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)