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脐血中HVRII线粒体DNA的遗传变异性与儿童呼吸道疾病

Genetic variability of HVRII mtDNA in cord blood and respiratory morbidity in children.

作者信息

Schmuczerova J, Brdicka R, Dostal M, Sram R J, Topinka J

机构信息

Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, v.v.i., Vídenská 1083, 142 20 Prague 4, Czech Republic.

出版信息

Mutat Res. 2009 Jun 18;666(1-2):1-7. doi: 10.1016/j.mrfmmm.2009.03.002. Epub 2009 Mar 18.

Abstract

Genetic polymorphisms were examined using direct sequencing of the hypervariable region II (HVRII) in the D-loop of mtDNA in the cord blood of 355 children living in two areas of the Czech Republic - the industrial district of Teplice and the agricultural district of Prachatice. The incidence of the most frequent nucleotide variants of HVRII, C150T (10.1%), T152C (19.7%), T195C (19.7%) and 309.nC (41.4% for 309.2C and 13.8% for 309.3C), and the respiratory morbidity at the ages of 0-2 years and 2-6 years were investigated, considering many other factors such as locality, gender, ethnicity, heating by coal in household, maternal age, asthma bronchiale, allergic rhinitis, pollinosis, conjunctivitis and maternal tobacco exposure during and after pregnancy. We found that the T195C transversion in HVRII is connected with an increased risk of early childhood (0-2 years) bronchitis (RR 1.38, p=0.034, 95% CI 1.04-1.85) and with increased risk of otitis media in children aged 2-6 years (RR 1.62, p=0.032, 95% CI 1.04-2.53). Another polymorphism, 309.nC, is associated with an increased risk of bronchitis in children aged 2-6 years (RR 1.46, p=0.030, 95% CI 1.04-2.06). The results indicate that genetic polymorphisms in mtDNA may be an important factor not only for various types of cancers and neurodegenerative diseases, but also for respiratory morbidity in children.

摘要

在捷克共和国的两个地区——特普利采工业区和普拉哈蒂采农业区,对355名儿童脐带血中线粒体DNA(mtDNA)控制区高变区II(HVRII)进行直接测序,检测基因多态性。研究了HVRII最常见核苷酸变异C150T(10.1%)、T152C(19.7%)、T195C(19.7%)和309.nC(309.2C为41.4%,309.3C为13.8%)的发生率,以及0至2岁和2至6岁儿童的呼吸道疾病发病率,同时考虑了许多其他因素,如地区、性别、种族、家庭燃煤取暖、母亲年龄、支气管哮喘、过敏性鼻炎、花粉症、结膜炎以及孕期和产后母亲接触烟草的情况。我们发现,HVRII中的T195C颠换与幼儿期(0至2岁)支气管炎风险增加有关(相对风险1.38,p = 0.034,95%置信区间1.04 - 1.85),也与2至6岁儿童中耳炎风险增加有关(相对风险1.62,p = 0.032,95%置信区间1.04 - 2.53)。另一种多态性309.nC与2至6岁儿童支气管炎风险增加有关(相对风险1.46,p = 0.030,95%置信区间1.04 - 2.06)。结果表明,mtDNA中的基因多态性可能不仅是各种癌症和神经退行性疾病的重要因素,也是儿童呼吸道疾病的重要因素。

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