Novel association of SNP rs479200 in EGLN1 gene with predisposition to preeclampsia.

Abstract

OBJECTIVES\nPlacental hypoxia is a hallmark of preeclampsia. SNP rs479200 in the EGLN1 gene is associated with reduced responsiveness to hypoxia. Whether this translates into an association between SNP rs479200 and preeclampsia is not known. We evaluated the association of SNP rs479200 (T>C) with the risk of preeclampsia.\n\n\nMETHODS\nThis case-control study involved 600 pregnant women of whom 300 were preeclamptic and 300 were normotensive. SNP rs479200 was genotyped by PCR-RFLP method.\n\n\nRESULT\nMinor allele frequency was 44% in preeclamptic women and 53% in normotensive pregnant women (P\u202f=\u202f1.8\u202f×\u202f10-3; odds ratio\u202f=\u202f1.43). The odds ratio was heterogeneous when compared after categorization of the preeclamptic group into clinical sub-groups. The association was significant with both mild (P\u202f=\u202f6.2\u202f×\u202f10-5) and severe (3.8\u202f×\u202f10-3) preeclampsia. However, the odds ratio was 0.52 for mild preeclampsia and 1.43 for severe preeclampsia.\n\n\nCONCLUSION\nThe minor allele of SNP rs479200 is associated with the predisposition to preeclampsia. This association underlines the importance of oxygen sensing in the pathogenesis of preeclampsia.