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Aminopeptidase A (ENPEP) gene polymorphisms and preeclampsia: Descriptive analysis
M Aung1, T Konoshita2, J Moodley3
1Department of Family Medicine, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.
Summary
Genetic variants in the aminopeptidase A (ENPEP) gene, specifically rs6825911, were investigated for their role in preeclampsia (PE) pathogenesis. This study found no significant association between ENPEP gene variants and preeclampsia in South African women of African ancestry.
Area of Science:
- Genetics
- Obstetrics
- Hypertension Research
Background:
- Preeclampsia (PE) etiology is unclear, though genetic factors are implicated.
- Genome-wide association studies identified the aminopeptidase A (ENPEP) gene, encoding an enzyme involved in angiotensin metabolism, as a potential factor in blood pressure regulation.
- The ENPEP rs6825911 C allele is a known risk factor for hypertension.
Purpose of the Study:
- To investigate the role of ENPEP gene variants in the pathogenesis of preeclampsia.
- To determine if the ENPEP rs6825911 polymorphism is associated with preeclampsia risk in a South African population of African ancestry.
Main Methods:
- A descriptive analysis of ENPEP gene polymorphisms was conducted.
- 602 pregnant women of African ancestry (245 normotensive, 357 with PE) were recruited.
- Single nucleotide polymorphism rs6825911 was analyzed using real-time polymerase chain reaction.
Main Results:
- The risk of the C allele for PE was not statistically significant (OR 1.07, P=0.589).
- The risk for the CC genotype compared to CT/TT genotypes for PE was not statistically significant (OR 1.33, P=0.086).
- Sub-analysis in PE patients without HIV infection also showed no significant association.
Conclusions:
- The ENPEP gene variant rs6825911 does not appear to play a significant role in the pathogenesis of preeclampsia.
- This study is the first to examine this association in a homogenous South African population of African ancestry.
- Further research may be needed to explore other genetic factors in preeclampsia.

