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Association Between Val158Met Functional Polymorphism in the COMT Gene and Risk of Preeclampsia in a Chinese Population

机译:中国人口中的COMT基因Val158Met功能多态性与先兆子痫风险之间的关联。

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Background and Aims: The catechol-O-methyltransferase (COMT) gene is a potential candidate in altering risk for preeclampsia due to the important enzymatic effects in the metabolism of steroid hormones. It contains a non-synonymous G-A base change at codon 158 in the membrane bound isoform, which leads to a valine-to-methionine amino acid substitution. In the soluble isoform the polymorphism rs4680 is located in codon 108. The variant allele is the Met (A) allele and the Val (G) allele is the wild type allele. Despite its previously reported association with preeclampsia in genotypes in three selected ethnic groups, further studies in other populations are required. Methods: We genotyped the Val158Met polymorphism in the COMT gene by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) analysis in a Chinese population. Results: In the case-control study that included 187 patients with preeclampsia (cases) and 189 normal subjects (controls), the AA genotype and variant Met allele frequencies of Val158Met in the COMT gene were significantly higher in patients with preeclampsia than those in the control group (both p 0.05). The odds ratio for the risk of preeclampsia was 2.395 [95% confidence interval (CI): 1.061-5.408] in women homozygous for the variant COMT allele (χ 2 = 4.649, p = 0.031). Furthermore, it showed that obese women homozygous for the variant COMT allele (Met/Met) had higher diastolic blood pressure levels during pregnancy than wild-type homozygotes (Val/Val) (p = 0.034). Conclusions: Our study provided evidence in favor of COMT being a candidate gene for conferring genetic susceptibility to preeclampsia in a South West Chinese population.
机译:背景和目的:由于类固醇激素代谢中的重要酶促作用,儿茶酚-O-甲基转移酶(COMT)基因是改变子痫前期风险的潜在候选者。它在膜结合同工型的第158位密码子处包含一个非同义的G-A碱基改变,其导致缬氨酸到蛋氨酸的氨基酸取代。在可溶性同工型中,多态性rs4680位于密码子108中。变异等位基因是Met(A)等位基因,Val(G)等位基因是野生型等位基因。尽管先前报道它与三个选定种族的子痫前期在基因型上有关联,但仍需要在其他人群中进行进一步研究。方法:通过中国人群的聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析,对COMT基因中Val158Met多态性进行基因分型。结果:在包括187名先兆子痫患者(病例)和189名正常受试者(对照组)的病例对照研究中,COMT基因中Val158Met的AA基因型和变异Met等位基因频率显着高于先兆子痫患者。对照组(均P <0.05)。在COMT等位基因纯合子中,子痫前期风险的比值比为2.395 [95%置信区间(CI):1.061-5.408](χ2 = 4.649,p = 0.031)。此外,结果表明,与野生型纯合子(Val / Val)相比,COMT等位基因变异(Met / Met)的纯合子肥胖妇女的舒张压水平更高(p = 0.034)。结论:我们的研究提供了证据,证明COMT是赋予西南中国人群先兆子痫遗传易感性的候选基因。

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