Genetic hyper-coagulation predisposition for myocardial infarction in the Newfoundland population

Butt, Christopher (2004) Genetic hyper-coagulation predisposition for myocardial infarction in the Newfoundland population. Masters thesis, Memorial University of Newfoundland.

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Abstract

Studies associating prothrombin G20210A (FIIG20210A), Factor V Lei den (FVL), and Factor XIIIV34L (FXIII-A V34L), Factor VII R353Q (FVII R353Q), 5, 10-Methylenetetrahydrofolate reductase A1298C (MTHFR A1298C), and Interleukin-6 -174 G/C (Il-6 -174 G/C) with myocardial infarction (MI) have yielded conflicting results. Complicated gene-gene interactions, small sample sizes and heterogeneous genetic and environmental backgrounds may contribute to conflicting results. Simultaneous analysis of multiple gene variants in a large sample size from a genetically isolated population may overcome these weaknesses. Genotyping was performed in 500 MI patients and 500 controls from the genetically isolated Newfoundland population to determine the prevalence of these gene variants and association with MI. Gene-gene interactions were also analyzed. The prevalence of combined carriers of FXIII-A V34L and FIIG20210A alleles was 12-fold higher in MI patients compared with controls (P = 0.002) and with 92% penetrance. There was disequilibrium of FXIII-A V34L allele to MI patients carrying FIIG20210A as a genetic background.

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