|?|| (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 18787502] Genetic contributions to the development of retinopathy of prematurity.