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自发早产的母亲遗传风险因素:一个系统的审查和元分析

Tea Mladenić¹, Anita Barišić², Nina Pereza¹

¹Department of Medical Biology and Genetics, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics

|December 2, 2024

概括

母亲遗传变异显示与自发早产 (sPTB) 有不一致的联系. 一项元分析确定了瘤亡因子α (rs1800629) 作为一个温和的信号,而无假设的方法揭示了未来sPTB研究的13个新基因.

科学领域:

遗传学遗传学是一个
生殖健康生殖健康
基因组流行病学基因组流行病学

背景情况:

母亲遗传变异与自发早产 (sPTB) 的关联在研究中仍然不一致.
以前的基因组方法产生了矛盾的结果,需要进行全面的审查.

研究的目的:

系统地审查和评估有关母亲遗传变异和sPTB的研究.
将研究分为基于假设的和没有假设的类别.
进行元分析,以确定母性遗传变异与sPTB之间的强有力的关联.

主要方法:

在PubMed,Scopus和参考清单中进行系统的文献搜索,截至2024年10月.
包括英语语言的病例控制,横截面和前性队列研究.
使用几率比率和95%置信区间来评估关联强度的数据提取和元分析.

主要成果:

包括81项研究,其中73项基于假设,14项没有假设.
分析显示,在添加和衰退模型 (P ≤0.05) 下,瘤亡因子α (rs1800629) 与瘤亡因子α (rs1800629) 有显著的关联.
没有假设的分析确定了13个具有全基因组意义的基因 (P < 5 × 10−8) 对于sPTB.

结论:

在所有研究中,没有一个单独的母性遗传变异与sPTB风险有一致的关联.
瘤亡因子α (rs1800629) 从基于假设的分析中出现了一个温和的信号.
没有假设的方法确定了新的遗传点,指导了未来对sPTB病因学的研究.

关键词:

外基因组测序是指外基因组的测序.遗传关联研究遗传关联研究全基因组关联研究研究.过早出生过早出生

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