上海交通大学学报(医学版)

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细胞因子多态性与复发性流产的关系

淦月薪, 张军, 陈丹   

  1. 上海交通大学 医学院附属新华医院 教育部和上海市环境与儿童健康重点实验室, 上海 200092
  • 出版日期:2016-09-28 发布日期:2016-10-31
  • 通讯作者: 陈丹, 电子信箱: simpledandan1981@163.com。
  • 作者简介:凎月薪(1991—), 女, 硕士生; 电子信箱: ganyuexin2015@126.com。
  • 基金资助:

    国家自然科学基金(81401212);上海市教育委员会高峰高原学科建设计划(20152517)

Association between cytokine gene polymorphisms and recurrent spontaneous abortion

GAN Yue-xin, ZHANG Jun, CHEN Dan   

  1. MOE-Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
  • Online:2016-09-28 Published:2016-10-31
  • Supported by:

    National Natural Science Foundation of China, 81401212; Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support, 20152517

摘要:

习惯性流产(RSA)定义为孕前20周连续3次或以上的流产。细胞因子是一类能在细胞间传递信息、具有免疫调节和效应功能的蛋白质或小分子多肽,影响妊娠的各个阶段,对妊娠结局起到至关重要的作用。鉴于细胞因子在母-胎免疫调节中的重要作用以及遗传多态对细胞因子功能和表达水平的潜在影响,近年来细胞因子遗传多态与复发性流产的关联研究成为国际研究的热点。这类研究目前存在诸多问题:不同研究关联结果不一致甚至相悖,细胞因子多态性在RSA中的作用难以确定;多在一项研究中发现少数的阳性报道,缺乏其他人群的验证,有假阳性的风险;病例-对照研究样本量小(<400例),统计效能偏低,容易造成假阴性结果;对于一个基因遗传多态位点研究不全面,极可能错过真正的致病位点;忽视了基因-基因交互作用和环境-基因交互作用对RSA的影响。因此,扩大样本规模、全面系统地研究细胞因子基因上代表性遗传多态,探讨基因-基因和基因-环境交互作用对复发性流产的影响,成为该研究领域的迫切需求。

关键词: 复发性流产, 细胞因子, 单核苷酸多态性

Abstract:

Recurrent spontaneous abortion (RSA) is defined as three or more consecutive abortions before 20 weeks of gestation. Cytokines are proteins or small molecular peptides for cell signaling, immune regulation and response, which affect all stages of pregnancy and play a vital role in pregnancy outcome. Because cytokines are very important in maternal-fetal immune regulation and genetic polymorphisms have potential impact on function and expression of cytokines, the association between cytokine genetic polymorphisms and RSA has become a hot topic of international research recently. There are some problems in reported studies. For example, the results of different studies are inconsistent or even conflicting, therefore it is difficult to determine the role of cytokine polymorphisms in RSA; most studies reported several positive cases and lack verification from other populations, thus the false positive risk may exist; the sample size of case-control studies was small (<400) with low statistical power, resulting in false negative findings; tagging single-nucleotide polymorphisms (SNPs) were not fully studied, thus the causal variants may be missed; the impact of gene-gene interaction and gene-environment interaction on RSA was not investigated. Therefore, increasing the sample size, systematically studying representative genetic polymorphisms, and exploring the impact of gene-gene and gene-environment interaction on RSA become an urgent need in this field.

Key words: recurrent spontaneous abortion, cytokine, single-nucleotide polymorphism