Date of Award
Open Access Thesis
Master of Public Health (MPH)
School of Public Health
Andrew T. DeWan
Genetic determinants that are associated with preeclampsia still remain elusive
nowadays, which might have resulted from limited understanding of the underlying
pathogenesis mechanisms and the fetal contributions. By using genome-wide association study approach, we identified 2 candidate copy number deletions of the highest odds ratio ranking on chromosome 1 and 19, from 283 US white babies born by the mothers with preeclampsia. Based on the molecular and biological functions of the genes entailed the deleted regions, which contain CTSK, ARNT, and ACTN4, we proposed that these two candidate genomic deletions might be associated with preeclampsia. In a further attempt to replicate our findings in an independent dataset that contains 1200 white European babies, we did not find genes matched with our highest ranking candidates; however, one specific gene RYR1 deletion was identified in both datasets, and it can also be found in an established genetic database of preeclampsia genes. Our study was aimed to better understand the etiology of preeclampsia and in hopes to develop better screening tools based on genetic variants carried by the predisposed mother or fetus in the coming future.
Yuan, Tze-An, "Identification Of Fetal Genomic Copy Number Deletions Associated With Preeclamptic Mothers In The Caucasian Population" (2015). Public Health Theses. 1338.