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Egyptian Journal of Medical Human Genetics

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Association of β-fibrinogen promoter gene polymorphism (148C/T), hyperfibrinogenemia and ischemic stroke in young adult patients

I Imran, R Lamsudin, P Idjradinata, TH Achmad, A Maskoen, S Wibowo, H Harapan

Abstract


Background: Single nucleotide polymorphism (SNP) 148C/T which is located in β fibrinogen gene (FGB) promoter has correlation with fibrinogen levels; however, the association of SNP 148C/T and ischemic stroke in young adult patients is contradictory.

Aim: To determine the association of SNP 148C/T in FGB promoter with plasma fibrinogen levels and ischemic stroke in young adults.

Subjects and methods: In this case-control study, SNP 148C/T among 107 ischemic stroke patients and 94 controls were evaluated by PCR-RFLP with restriction enzyme HindIII and confirmed by DNA sequencing. Physical and neurological examinations, brain computed tomography, plasma fibrinogen levels and blood biochemistry tests were assessed within seven days after the onset of symptoms. Genotype distributions and allele frequencies were analyzed by chi-squared test.

Results: This study found that the level of fibrinogen was significantly higher in ischemic stroke group than control (419.2 mg/dL vs. 351.1 mg/dL, p<0.000) and the level of fibrinogen associated with ischemic stroke (OR, 2.28; 95%CI, 1.28–4.07, p= 0.005). Mutant genotypes (CT and TT) and T allele had a significant association with hyperfibrinogenemia (OR, 2.58; 95%CI, 1.39–4.76 and OR, 1.6; 95%CI, 1.60–2.41, respectively) and ischemic stroke (OR, 2.46; 95%CI, 1.37–4.41 and OR, 1.80; 95%CI 1.19–2.73, respectively). In addition, analysis adjusted for other risk factors found that mutant genotypes correlated with hyperfibrinogenemia and ischemic stroke (OR, 2.27; 95%CI, 1.21–4.25 and OR, 2.16; 95%CI, 1.19–3.94, respectively).

Conclusion: There was a significant association between SNP 148C/T and fibrinogen levels, SNP 148C/T and ischemic stroke, and fibrinogen levels and ischemic stroke.

Keywords: Ischemic stroke; Fibrinogen; Hyperfibrinogenemia; 148C/T FGB polymorphism; rs1800787.




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