Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia

Area of Science:

• Genetics
• Obstetrics
• Cardiovascular Disease Risk Factors

Background:

• Preeclampsia (PE) is a significant global cause of maternal and fetal morbidity and mortality.
• Elevated plasma homocysteine (Hcy) levels are recognized risk factors for cardiovascular diseases.
• The Cystathionine β-synthase (CBS) gene is crucial for Hcy homeostasis and endothelial protection.

Purpose of the Study:

• To investigate the association between polymorphisms in the CBS gene and the risk of developing preeclampsia in a Mexican population.
• To determine if specific CBS gene variants contribute differently to severe versus mild preeclampsia.

Main Methods:

• A case-control study was conducted with 129 pregnant women diagnosed with PE (37 severe, 92 mild) and 173 healthy pregnant women.
• Genotyping was performed for multiple polymorphisms within the CBS gene, including G797A, C785T, T833C, G919A, T959C, C1105T, and 844ins68 base pair.
• Statistical analysis was used to assess the association between genotypes, alleles, haplotypes, and PE status.

Main Results:

• The C785T-T allele and C785T-C/T genotype were associated with susceptibility to both severe and mild PE.
• The G797A-G allele and T959C-T allele were specifically associated with susceptibility to severe PE.
• Haplotype analysis revealed TGTWGTC as a susceptibility factor for severe PE and a protective factor for mild PE, while CGTWGCC and CATWGTC showed protective effects for severe PE.

Conclusions:

• Specific CBS gene polymorphisms, namely C785T, G797A, and T959C, are associated with preeclampsia in Mexican women.
• These genetic variations appear to contribute differentially to the risk and severity of preeclampsia.
• CBS gene polymorphisms represent a potential contributing factor to preeclampsia pathogenesis.