Krnjeta Tijana, Mirković Ljiljana, Ignjatović Svetlana, Tomašević Dragana, Lukić Jelena, Topalov Drina, Soldatović Ivan, Majkić-Singh Nada
Roche d.o.o. Serbia BU Diagnostics, Belgrade, Serbia.
Clinic of Gynecology and Obstetrics, Clinical Center of Serbia, Belgrade, Serbia, and University of Belgrade - Faculty of Medicine, Belgrade, Serbia.
J Med Biochem. 2016 Sep;35(3):312-318. doi: 10.1515/jomb-2016-0013. Epub 2016 Jul 6.
Up until now there have been contradictory data about the association between p.Val158Met catechol-O-methyltransferase (COMT) polymorphism and risk of preeclampsia (PE). The goal of this study was to assess the potential correlation between p.Val158Met polymorphism and risk of early-onset PE, risk of a severe form of early-onset PE, as well as risk of small-for-gestational-age (SGA) complicating PE.
The study included 47 early-onset PE patients and 47 control cases. Forty-seven early-onset PE patients were grouped by disease severity (33 patients with a severe form and 14 patients without severe features) and secondly by size for gestational age (12 patients with appropriate-for-gestational-age (AGA) and 35 patients with SGA size). p.Val158Met polymorphism was genotyped by PCR-RFLP analysis.
Allele analysis showed significant difference in allele distribution between early-onset PE and control group as well as early-onset PE SGA and controls (p=0.04057 and p=0.0411 respectively). A statistically significant distribution difference between the severe form and form without severe features of early-onset PE patients was not observed (p>0.05). The highest difference observed was in the allele recessive model where MetMet genotype was associated with decreased risk of early-onset PE (OR=0.281; 95%CI = 0.092-0.7836) and PE complications including severe early-onset PE (OR= 0.304; 95%CI=0.086-0.944) and SGA early-onset PE (OR=0.284; 95%CI=0.081-0.874).
may be used as a candidate gene for early-onset PE and its severe form and SGA complications.
到目前为止，关于儿茶酚-O-甲基转移酶（COMT）基因p.Val158Met多态性与子痫前期（PE）风险之间的关联存在相互矛盾的数据。本研究的目的是评估p.Val158Met多态性与早发型PE风险、重度早发型PE风险以及早发型PE合并小于胎龄儿（SGA）风险之间的潜在相关性。
该研究纳入了47例早发型PE患者和47例对照病例。47例早发型PE患者首先按疾病严重程度分组（33例重度患者和14例非重度患者），其次按胎龄大小分组（12例适于胎龄（AGA）患者和35例SGA患者）。通过聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）对p.Val158Met多态性进行基因分型。
等位基因分析显示，早发型PE组与对照组以及早发型PE合并SGA组与对照组之间的等位基因分布存在显著差异（分别为p=0.04057和p=0.0411）。未观察到早发型PE患者的重度组与非重度组之间存在统计学上的显著分布差异（p>0.05）。观察到的最大差异存在于等位基因隐性模型中，其中MetMet基因型与早发型PE风险降低相关（OR=0.281；95%CI = 0.092-0.7836），与包括重度早发型PE（OR= 0.304；95%CI=0.086-0.944）和早发型PE合并SGA（OR=0.284；95%CI=0.081-0.874）在内的PE并发症风险降低相关。
可能作为早发型PE及其重度形式和SGA并发症的候选基因。
