Li, Shuo (2012) Association of MTHFR and 9p21 with ischemic stroke in the Chinese Han population. Masters thesis, Memorial University of Newfoundland.
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Previous studies have revealed inconsistent results in examining the association of MTHFR c.677C>T, c.1298A>C variants and 9p21 locus with ischemic stroke. This thesis includes two case control studies by enrolling 1,429 ischemic stroke patients and 1,197 control individuals from the Chinese Han population. One study validates the association between the candidate 9p21 locus and ischemic stroke both at the SNP and Haplotype levels by genotyping four common variants encompassing a 44kb candidate risk region on 9p21. Moreover, the haplotype analysis reduces the candidate risk region on 9p21 locus to 28 kb. The other study indicates that the MTHFR locus is associated with ischemic stroke in the Chinese Han population. The MTHFR c. 677C>T variant is a risk factor, and its effect could be modified by genetic or environmental factors which vary among different ethnic populations. The MTHFR c. 1298A>C variant is more likely to play the role of a genetic marker than a causative variant in association with ischemic stroke. Combined analysis suggests the 9p21 locus and MTHFR risk alleles confer an additive co-effect for increased risk in ischemic stroke.
|Item Type:||Thesis (Masters)|
|Additional Information:||Includes bibliographical references (leaves 76-119).|
|Department(s):||Medicine, Faculty of|
|Library of Congress Subject Heading:||Cerebrovascular disease--China--Genetic aspects.; Nucleotide sequence.; Methylenetetrahydrofolate reductase--China.; Cerebrovascular disease--Patients--China|
|Medical Subject Heading:||Cerebrovascular disease--China--Genetic aspects; Nucleotide sequence; Methylenetetrahydrofolate reductase--China; Cerebrovascular disease--Patients--China|
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