Genotype and allele frequencies of the platelet glycoprotein genes associated with arterial thrombosis in Korean population / 대한수혈학회지

ABSTRACT

BACKGROUND: Ischemic heart disease and cerebrovascular disease are the main causes of death and platelets are responsible for the formation of arterial thrombi. Platelet membrane glycoproteins (GP) associated with coagulation pathway are GPIb/V/IX, GPIa/IIa, and GPIIb/IIIa. We evaluated genotype and allele frequencies of seven platelet glycoprotein genes associated with arterial thrombosis. METHODS: Genomic DNA was isolated from peripheral blood of 300 unrelated Korean and single nucleotide polymorphism of platelet glycoproteins was analyzed. PCR with sequence specific primers was used to investigate GPIa C807T and GPIbalpha VNTR polymorphism. PCR-RFLP (restriction fragment length polymorphism) was used to investigate GPIa G1648A and C2531T, GPIbalpha C524T and T-5C, and GPIIIa T1565C polymorphism. RESULTS: The allele frequencies of GPIa C807T were 807C 0.733, 807T 0.267; GPIa 1648G 0.975, 1648A 0.025; GPIa C2531T, 2531C 1.000, 2531T 0.000; GPIbalpha C524T, 524C 0.927, 524T 0.073; GPIbalpha VNTR, A 0.017, B 0.015, C 0.558, D 0.410; GPIbalpha T-5C, -5T 0.726, -5C 0.274; GPIIIa T1565C, 1565T 0.995, 1565C 0.005. CONCLUSION: The genotype and allele frequencies of GPIa G1648A, GPIbalpha C524T, and GPIIIa T1565C were similar to established data. GPIa 807T and -5T allele of Kozak polymorphism showed low frequency compared with other ethnic group. Allele frequencies of GPIbalpha VNTR A and B alleles were very alike (0.017 vs 0.015). In this study, we firstly evaluated the genotype and allele frequencies of GPIa C2531T and GPIbalpha VNTR, T-5C polymorphisms in Korean population. This study will serve as a basic data for the study of platelet glycoproteins associated with arterial thrombosis in Korean.