EGLN1 基因中 SNP rs479200 与子痫前期易感性的新关联。
Novel association of SNP rs479200 in EGLN1 gene with predisposition to preeclampsia.
机构信息
Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, India.
Department of Obstetrics and Gynecology, Sri Devaraj Urs Medical College, Kolar, India.
出版信息
Gene. 2019 Jul 15;705:1-4. doi: 10.1016/j.gene.2019.04.049. Epub 2019 Apr 19.
OBJECTIVES
Placental 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.
METHODS
This case-control study involved 600 pregnant women of whom 300 were preeclamptic and 300 were normotensive. SNP rs479200 was genotyped by PCR-RFLP method.
RESULT
Minor allele frequency was 44% in preeclamptic women and 53% in normotensive pregnant women (P = 1.8 × 10; odds ratio = 1.43). 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 = 6.2 × 10) and severe (3.8 × 10) preeclampsia. However, the odds ratio was 0.52 for mild preeclampsia and 1.43 for severe preeclampsia.
CONCLUSION
The 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.
目的
胎盘缺氧是子痫前期的一个标志。EGLN1 基因中的 SNP rs479200 与对缺氧的反应降低有关。这种 SNP rs479200 与子痫前期之间是否存在关联尚不清楚。我们评估了 SNP rs479200（T>C）与子痫前期风险之间的关联。
方法
本病例对照研究纳入了 600 名孕妇，其中 300 名患有子痫前期，300 名血压正常。通过 PCR-RFLP 方法对 SNP rs479200 进行基因分型。
结果
子痫前期妇女的次要等位基因频率为 44%，血压正常孕妇为 53%（P=1.8×10；优势比=1.43）。在将子痫前期组分为临床亚组后，比值比存在异质性。与轻度（P=6.2×10）和重度（3.8×10）子痫前期均有显著相关性。然而，轻度子痫前期的优势比为 0.52，重度子痫前期的优势比为 1.43。
结论
SNP rs479200 的次要等位基因与子痫前期易感性相关。这种关联强调了氧感应在子痫前期发病机制中的重要性。
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