Rs11887534

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Orientationplus
is asnp
is mentioned by
dbSNPrs11887534
PheGenIrs11887534
nextbiors11887534
hapmaprs11887534
1000 genomesrs11887534
hgdprs11887534
ensemblrs11887534
gopubmedrs11887534
geneviewrs11887534
scholarrs11887534
googlers11887534
pharmgkbrs11887534
gwascentralrs11887534
openSNPrs11887534
23andMers11887534
23andMe allrs11887534
SNP Nexus

SNPshotrs11887534
SNPdbers11887534
MSV3drs11887534
GeneABCG5, ABCG8
Chromosome2
Orientationplus
GMAF0.06428
Position43839108
ReferenceGRCh38 38.1/141
Max Magnitude2.1
Geno Mag Summary
(C;C) 2.1 7x increased risk for gallstones
(C;G) 2.1 2x increased risk for gallstones
(G;G) 0 normal risk for gallstones
? (C;C) (C;G) (G;G) 28
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]

GWAS
SNP rs11887534
PubMedID [PMID 17632509]
Condition Gallstones
Gene ABCG8
Risk Allele C
pValue 1.00E-014
OR 2.2
95% CI 1.80-2.60


OMIM611465
DescGALLBLADDER DISEASE 4
Variant
Relatedalso
OMIM605460
DescATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8
Variant
Relatedalso
[PMID 20592455OA-icon.png] 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

OMIM605460
Desc
Variant0009
Relatedalso


ClinVar
Risk rs11887534(A,C;A,C)
Alt rs11887534(A,C;A,C)
Reference rs11887534(G;G)
Significance 5
Disease Gallbladder disease 4
ClinVar info, info
Gene ABCG5, ABCG8
CLNDBN Gallbladder disease 4
Reversed 0
CLNHGVS NC_000002.11:g.44066247G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005263.1



[PMID 15996216OA-icon.png] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.


[PMID 16507104OA-icon.png] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 19005228OA-icon.png] 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 19060906OA-icon.png] Common variants at 30 loci contribute to polygenic dyslipidemia.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19822575OA-icon.png] 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.


GET Evidence
ABCG8-D19H
aa_change Asp19His
aa_change_short D19H
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0576172
summary



[PMID 24256507OA-icon.png] Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)