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  • Title: PP013. Single nucleotide polymorphisms of the maternal cystathionine-b-synthase gene are associated with preeclampsia (PE).
    Author: Holwerda K, Weedon-Fekjær S, Staff A, Nolte I, Goor H, Lely T, Faas M.
    Journal: Pregnancy Hypertens; 2013 Apr; 3(2):72. PubMed ID: 26105871.
    Abstract:
    INTRODUCTION: Cystathionine-b-synthase (CBS) produces the vasodilatory and anti-inflammatory hydrogen sulfide (H2S) by conversion of homocysteine (Hcy). H2S is involved in placental vascular tone regulation. Previously, we showed that woman with PE have hyperhomocysteinemia and decreased placental CBS gene expression. OBJECTIVES: Aberrant CBS gene expression may play a role in hyperhomocysteinemia and decreased H2S and could be involved in pathogenesis of PE. We studied whether the presence of CBS single nucleotide polymorphisms (SNPs) is associated with the development of PE. METHODS: Six CBS SNPs (rs12329764, rs2851391, rs234713, rs234706, rs1789953, rs11203172) were genotyped in 99 controls, 60 severe, and 39 mild PE cases. Severe and mild PE cases were additionally subdivided into late- (>34 weeks) and early-onset (<34 weeks) PE. The association of the alleles with development PE was tested with logistic regression. RESULTS: Two of the six SNPs are associated with PE. The minor allele for rs11203172 reduces the risk for developing severe PE (OR[95% CI]=0.54[0.21-0.94], p=0.023). The minor allele for rs234706, which is associated with low Hcy, increased the risk to develop mild, late-onset PE (2.10[1.15-3.85], p=0.016). CONCLUSION: SNPs in the CBS gene are associated with risk of developing PE. Within the CBS gene, SNPs associated with both a decreased and an increased risk to develop PE were found. Altered effectiveness of CBS may affect PE through decreased H2S production or Hcy accumulation.
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