Association of (TG)n(GA)m repeats downstream CMA1 gene with preeclampsia in Mexican population.

Abstract

Preeclampsia is a leading cause of maternal and fetal complications, often associated with endothelial dysfunction. Chymase, a proteolytic enzyme encoded by the CMA1 gene, has emerged as a potential contributor to this dysfunction. Although most preeclampsia (PE) studies have focused on maternal genetic factors, the role of paternal genetics remains underexamined. This study aimed to evaluate the association between the -1903 G/A SNV (rs1800875) and (TG)n(GA)m repeats downstream of the CMA1 gene with preeclampsia in pregnant women and their partners. A cross-sectional study was conducted involving women with PE, healthy pregnant women (HPW), and their corresponding partners, with genotyping, gene expression, and circulating protein levels assessed. A total of 141 participants were included, divided into preeclampsia (n = 80) and HPW (n = 61) groups. Women with PE showed significantly lower gestational age and higher recurrence of preeclampsia history compared to HPW. No significant association was found between the rs1800875 variant and preeclampsia; however, the (TG)n(GA)m repeat downstream of CMA1 gene was significantly associated with PE in women. Additionally, elevated serum IgE levels were significantly associated with preeclampsia (OR = 0.990; 95 % CI:0.983-0.998, p = 0.01). These findings suggest a possible role of polymorphic repeats in CMA1 as susceptibility factors for preeclampsia, indicating that both maternal and paternal genetic variations may contribute to the risk of this condition.