Department of Preventive Medicine, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, North Shore University Hospital, Manhasset, NY, USA.
Pregnancy Hypertens. 2020 Jan;19:190-194. doi: 10.1016/j.preghy.2020.01.013. Epub 2020 Jan 28.
Pleckstrin homology-like domain, family A, member 2 (PHLDA2) is a maternally expressed imprinted gene. Loss of imprinting in PHLDA2 is associated with abnormal placental development and fetal growth restriction. Our objective was to determine whether genetic variation in PHLDA2 is also associated with risk of HELLP syndrome and preeclampsia (PE) with severe features.
Case (n = 162) and control (n = 33) mother-father-child triads were recruited using an internet-based method. Medical records were reviewed to verify clinical diagnosis of self-reported cases. DNA was genotyped for three polymorphisms in the PHLDA2 gene using TaqMan assays: rs13390, rs1056819, rs2583435.
To examine the association between minor alleles and haplotypes with HELLP syndrome and PE with severe features, relative risks and 95% confidence intervals were estimated using log-linear models, adjusting for the correlation between familial genotypes, using HAPLIN.
There was no association identified between PHLDA2 gene polymorphisms or haplotypes and HELLP syndrome and PE with severe features. No parent-of-origin effects were observed.
Genetic variation in the PHLDA2 gene is not associated with HELLP syndrome or PE with severe features.
PLECKSTRIN 同源结构域家族 A 成员 2（PHLDA2）是一种母系表达的印记基因。PHLDA2 的印记丢失与胎盘发育异常和胎儿生长受限有关。我们的目的是确定 PHLDA2 中的遗传变异是否也与 HELLP 综合征和伴有严重特征的子痫前期（PE）的风险相关。
采用基于互联网的方法招募了病例（n=162）和对照（n=33）母子三人组。通过审查病历来验证自我报告病例的临床诊断。使用 TaqMan 测定法对 PHLDA2 基因中的三个多态性进行了基因分型：rs13390、rs1056819、rs2583435。
为了研究次要等位基因和单体型与 HELLP 综合征和伴有严重特征的 PE 之间的关联，使用 log-linear 模型估计相对风险和 95%置信区间，并使用 HAPLIN 调整家族基因型之间的相关性。
未发现 PHLDA2 基因多态性或单体型与 HELLP 综合征和伴有严重特征的 PE 之间存在关联。未观察到亲本来源效应。
PHLDA2 基因中的遗传变异与 HELLP 综合征或伴有严重特征的 PE 无关。
