Phneh, Kok Yeow (2018) Single nucleotide polymorphism of selected genes associated with stroke. Masters thesis, Universiti Malaysia Sabah.
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Abstract
Stroke is the second leading cause of death and the third leading cause of disability worldwide. Generally, higher stroke mortality rate was observed in the Asian than Western Europe and America. Stroke is the third leading cause of death in Malaysia with 5876 stroke death cases in year 2016 and poses a great economic burden to the country where the estimated lifetime economic burden for stroke patients was MYR 5.5 billions. Recently, studies have reported that single nucleotide polymorphisms (SNPs) within genes may alter an individual’s susceptibility towards the development of stroke incidence. In present study, SNPs from six different genes namely MTHFR rs1801133, eNOS rs1799983, ANRIL rs10757278, LIPG rs9958947, BDNF rs6265 and ApoE had been studied to identify the associations of these SNPs with stroke risk. Blood samples from 113 stroke patients and 138 healthy controls were collected and DNA was extracted from the blood samples. The Taqman® SNP genotyping assay was used to identify the gene polymorphism in the subjects and ApoE polymorphism is identified using restriction fragment length polymorphism (RFLP) method. Odds Ratio (OR) test with 95% confidence interval (CI) was used to identify the association of the SNPs with stroke risk. Overall, the MTHFR rs1801133- T allele and BDNF rs6265-A allele conferred a reduced stroke risk in this study. After gender and lifestyle stratification, the protective effects against stroke of the MTHFR rs1801133-T allele was significant in male, non-smokers, non-drinkers and fast food goers group while female, non-smoker, non-drinkers and fast food goer group for the BDNF rs6265-A allele. The eNOS rs1799983-T allele increased stroke risk among non-smokers and fast food goers. Finally, the E4/E3 genotype of the ApoE polymorphism was determined to be associated with increased stroke risk among drinkers. The results corroborate previous studies that discovered the association of eNOS rs1799983-T allele and ApoE-E4 allele with increased stroke risk. The results also suggested that the MTHFR rs1801133-T allele and BDNF rs6265-A allele may be linked to decresed stroke risk and hence, protective effects against stroke.
| Item Type: | Thesis (Masters) |
|---|---|
| Keyword: | Stroke risk, Genetic polymorphisms, Genetic associations with stroke, Risk stratification |
| Subjects: | Q Science > QH Natural history > QH301-705.5 Biology (General) > QH426-470 Genetics |
| Department: | FACULTY > Faculty of Science and Natural Resources |
| Depositing User: | DG MASNIAH AHMAD - |
| Date Deposited: | 07 Mar 2025 11:25 |
| Last Modified: | 07 Mar 2025 11:25 |
| URI: | https://eprints.ums.edu.my/id/eprint/43065 |
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