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rs2243093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 3.4
(C;T)
(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4932600
GeneGP1BA
is asnp
is mentioned by
dbSNPrs2243093
ebirs2243093
HLIrs2243093
Exacrs2243093
Varsomers2243093
Maprs2243093
PheGenIrs2243093
hapmaprs2243093
1000 genomesrs2243093
hgdprs2243093
ensemblrs2243093
gopubmedrs2243093
geneviewrs2243093
scholarrs2243093
googlers2243093
pharmgkbrs2243093
gwascentralrs2243093
openSNPrs2243093
23andMers2243093
23andMe allrs2243093
SNP Nexus

SNPshotrs2243093
SNPdbers2243093
MSV3drs2243093
GWAS Ctlgrs2243093
GMAF0.1837
Max Magnitude3.4
? (C;C) (C;T) (T;T) 28

Resides within the platelet glycoprotein (1bα) gene. The rs2243093 variant (C;C) was found to increase the odds of coronary heart disease in a clinical Chinese Han population. The (C;C) genotype is also associated with a risk of ischemic stroke. Rs2243093 is also classified in the literature as the -5T/C, Kozak sequence polymorphism.

[PMID 23252292] A case-control study of 246 Chinese Han patients (with preexisting coronary heart disease) reported that in comparison to the "(T;T)" genotype, the "(C;C)" genotype is associated with an increased risk for coronary heart disease with an odds ratio of 3.41 (CI: 1.19-9.75, p<0.029).

[PMID 18403734] A meta-analysis was performed in order to test the hypothesis that genetic variation of the platelet glycoprotein 1bα gene(which includes rs2243093 Kozak variant (n=1984 cases and n=1932 controls) influences ischemic stroke clinical outcome. The study found that there is a strong association (dominant inheritance pattern) with risk of ischemic stroke, but the direction of rs2243093 association is variable and unclear. The authors suggest that the Kozak sequence polymorphism may be associated with another causative locus responsible for an increase in ischemic stroke risk.


[PMID 18787502OA-icon.png] Genetic contributions to the development of retinopathy of prematurity.