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白细胞介素-6基因启动子多态性:复发性流产的遗传易感性

IL-6 gene promoter polymorphisms: genetic susceptibility to recurrent pregnancy loss.

作者信息

Demirturk F, Ates O, Gunal O, Bozkurt N, Aysal T, Nacar M C

出版信息

Bratisl Lek Listy. 2014;115(8):479-82. doi: 10.4149/bll_2014_092.

DOI:10.4149/bll_2014_092
PMID:25246282
Abstract

Recurrent pregnancy loss (RPL) is defined as three or more pregnancy losses before 20 weeks. RPL is a multifactorial condition with several etiologic factors including genetic abnormalities of the parents, anatomical, endocrinological, hematologic and immunologic abnormalities, infections, nutritional and environmental factors. The causes of pregnancy loss in about half of the women with RPL even after extensive investigations remain unknown. We analyzed IL-6 -174 G/C, -572 G/C, -597 G/A, -1363 G/T, -2954 G/C promoter region polymorphisms in 113 RPL patients and 113 healthy subjects by using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay. The -174G/C genotypic and -174C allelic frequency and the -2954G/C genotypic and -2954C allelic frequency of IL-6 was higher in RPL patients than healthy controls and a significant association was found between RPL and -174G/C, -2954G/C polymorphisms (p < 0.0001, OR: 0.28, 95% CI: 0.15-0.51, p < 0.034, OR: 0.16, 95% CI: 0.01-1.12 respectively). We found remarkably similar frequencies in RPL patients compared to controls for IL-6 -572G/C,-597G/A and -1363G/T genotypes/alleles and no association was observed between RPL and these polymorphisms. Our study supported that IL-6 -174G/C and -2954G/C polymorphisms were associated with an increased risk of RPL in Turkish patients (Tab. 3, Ref. 24).

摘要

复发性流产(RPL)定义为妊娠20周前发生三次或三次以上流产。RPL是一种多因素疾病,有多种病因,包括父母的基因异常、解剖学、内分泌学、血液学和免疫学异常、感染、营养和环境因素。即使经过广泛检查,约一半RPL女性的流产原因仍不清楚。我们采用基于聚合酶链反应(PCR)的限制性片段长度多态性(RFLP)分析方法,对113例RPL患者和113例健康受试者的白细胞介素-6(IL-6)-174G/C、-572G/C、-597G/A、-1363G/T、-2954G/C启动子区域多态性进行了分析。RPL患者中IL-6的-174G/C基因型和-174C等位基因频率以及-2954G/C基因型和-2954C等位基因频率高于健康对照,并且发现RPL与-174G/C、-2954G/C多态性之间存在显著关联(p<0.0001,OR:0.28,95%CI:0.15-0.51;p<0.034,OR:0.16,95%CI:0.01-1.12)。我们发现,与对照组相比,RPL患者中IL-6 -572G/C、-597G/A和-1363G/T基因型/等位基因的频率非常相似,并且未观察到RPL与这些多态性之间存在关联。我们的研究支持IL-6 -174G/C和-2954G/C多态性与土耳其患者RPL风险增加相关(表3,参考文献24)。

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