Study of genetic risk factors for myocardial infarction in the Newfoundland population

Cui, Jianxun (2007) Study of genetic risk factors for myocardial infarction in the Newfoundland population. Masters thesis, Memorial University of Newfoundland.

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Myocardial infarction (MI) is a leading cause of death in developed countries. Genetic association studies have been applied to search for associations between MI and candidate genes. In the present study, genetic variants for two MI candidate genes, thrombospondins-4 (THBS4) (29926C>G) and methylenetetrahydrofolate reductase (MTHFR) (677C>T and 1298A>C) were genotyped using a large cohort from the genetically homogenous Newfoundland population. This study focused on determining the distribution of each individual gene variants, and possible intragenic and intergenic allelic interactions. Our results suggest that: 1) homozygosity for the THBS4 29926C variant is associated with MI, especially in older females; 2) the MTHFR 677T is a weak protective factor against MI but its effect is silenced when it is in cis with 1298C; 3) the MTHFR 1298C is a risk factor for later onset MI and its effect is reduced when the trans configuration with 677T.

Item Type: Thesis (Masters)
Item ID: 10362
Additional Information: Includes bibliographical references (leaves 74-97).
Keywords: myocardial infarction, risk factors, association study, thrombospondin-4, Newfoundland population, MTHFR 677C>T, MTHFR 1298A>C, Haplotype
Department(s): Medicine, Faculty of
Date: 2007
Date Type: Submission
Library of Congress Subject Heading: Human population genetics--Newfoundland and Labrador; Myocardial infarction--Risk factors--Newfoundland and Labrador; Myocardial infarction--Newfoundland and Labrador--Genetic aspects; Thrombospondins.
Medical Subject Heading: ; Genetics, Population--Newfoundland and Labrador; Myocardial Infarction--genetics--Newfoundland and Labrador; Risk Factors--Newfoundland and Labrador; Thrombospondins--Newfoundland and Labrador.

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