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Genetic polymorphism in DGCR8 is associated with late onset of preeclampsia
BMC Medical Genetics ( IF 2.023 ) Pub Date : 2019-09-04 , DOI: 10.1186/s12881-019-0887-7
Xin Huang , Zuodong Li , Jun Lei , Dapeng Wang , Yujing Zhang

PE (preeclampsia) is a heterogeneous disorder with early onset PE (EOPE) and late onset PE (LOPE) subtypes. Associations between maternal miRNAs biosynthesis genes polymorphisms and risk of PE have been previously observed. However, the impact of polymorphisms in DGCR8 which is indispensable in miRNA maturing processing on the susceptibility to preeclampsia (PE) has not been elucidated yet. We, therefore, conducted a case-control study to evaluate the impact of polymorphisms in DGCR8 on the risk of EOPE and LOPE. A total of 66 patients diagnosed with EOPE, 206 with LOPE and 330 healthy controls were recruited. Five SNPs in DGCR8 were genotyped including rs1558496, rs1640299, rs720012, rs720014, and rs9606241. Logistic regression was used to estimate the OR and the 95% CI for the associations. Increased risk of LOPE has been observed among patients with rs1640299 TG genotype (OR = 1.98 (95%CI: 1.38, 2.87), p = 2.32e-4) and rs720014 TC genotype (OR = 2.49 (95%CI: 1.72, 3.60), p = 1.40e-7). The DGCR8 rs1558496/ rs1640299/ rs720012/ rs720014/ rs9606241 haplotype T-G-A-C-A and T-G-A-C-G were associated with increased risk of LOPE (OR = 2.20 (95%CI: 1.49, 3.25), p = 5.90e-5, and 1.58 (95%CI: 1.06, 2.36), p = 0.024, respectively). And the haplotype T-T-G-T-A was associated with lower risk of LOPE (OR = 0.74 (95%CI: 0.58, 0.95), p = 0.018). These significant associations retained after false-positive discovery rate correction. However, none of the tested SNPs or haplotypes in DGCR8 gene is associated with risk of EOPE (p > 0.05). Polymorphisms in DGCR8 might participate in the pathological process of preeclampsia. The rs1640299 T > G and rs720014 T > C polymorphisms are associated with late onset preeclampsia susceptibility.

中文翻译:

DGCR8基因多态性与先兆子痫的晚期发作有关

PE(先兆子痫)是一种异质性疾病,有早期发作的PE(EOPE)和晚期发作的PE(LOPE)亚型。先前已经观察到母体miRNA生物合成基因多态性与PE风险之间的关联。但是,尚未阐明在miRNA成熟过程中必不可少的DGCR8多态性对子痫前期(PE)的敏感性的影响。因此,我们进行了一项病例对照研究,以评估DGCR8中多态性对EOPE和LOPE风险的影响。总共招募了66位被诊断为EOPE的患者,206位LOPE的患者和330位健康对照。对DGCR8中的五个SNP进行了基因分型,包括rs1558496,rs1640299,rs720012,rs720014和rs9606241。使用Logistic回归估计关联的OR和95%CI。rs1640299 TG基因型(OR = 1.98(95%CI:1.38,2.87),p = 2.32e-4)和rs720014 TC基因型(OR = 2.49(95%CI:1.72,3.60) ),p = 1.40e-7)。DGCR8 rs1558496 / rs1640299 / rs720012 / rs720014 / rs9606241单倍型TGACA和TGACG与LOPE风险增加相关(OR = 2.20(95%CI:1.49,3.25),p = 5.90e-5和1.58(95%CI:分别为1.06、2.36),p = 0.024)。单倍型TTTGA与较低的LOPE风险相关(OR = 0.74(95%CI:0.58,0.95),p = 0.018)。假阳性发现率校正后,保留了这些重要的关联。但是,DGCR8基因中未测试的SNP或单倍型均与EOPE风险相关(p> 0.05)。DGCR8基因多态性可能参与子痫前期的病理过程。rs1640299 T>
更新日期:2019-09-04
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