Relationship between IL-10 promoter gene polymorphisms and the susceptibility to endometriosis

Pei He, He P, Jun Lin, Zhang XM, Deng L, Xin-Mei ZHANG, Ma JY, Jun-Yan Ma, Lin Deng, Junyan Ma
Yi chuan = Hereditas · 2009 · vol. 31(5) , pp. 479–484 · doi:10.3724/sp.j.1005.2009.00479 · PMID:19586841 · W2462112547
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⚙ AI-generated summary by claude@2026-07, 2026-07-09 ⓘ

This study found that polymorphisms in IL-10 promoter gene sites -819 (T/C) and -592 (A/C) are significantly associated with increased susceptibility to endometriosis in the Chinese population.

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The study examined whether IL-10 promoter gene polymorphisms are associated with susceptibility to endometriosis in Chinese Han women, analyzing 119 endometriosis (EMs) patients across different stages and 120 randomly selected controls. Genotypes for IL-10 -1082G/A, -819T/C, and -592A/C were assessed using ARMS-PCR with DNA sequencing and PCR-RFLP. The authors found no significant differences between EMs and control groups for -1082 allele/genotype frequencies, but -819C and/or -592C alleles and corresponding genotypes were significantly more frequent in EMs cases than in controls. They also report that in stage III–IV patients, -819C and -592C–related allele/genotype frequencies were higher than in stage I–II patients and controls, concluding that IL-10 -819T/C and -592A/C polymorphisms are related to EMs susceptibility; This paper is centrally about endometriosis — it tests IL-10 promoter polymorphisms as genetic susceptibility factors for endometriosis risk in Chinese Han women.

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Abstract

The purpose of this study was to investigate the relationship between IL-10 promoter gene polymorphism and the susceptibility to endometriosis (EMs) in Chinese population. Amplification refractory mutation system polymerase chain reactions (ARMS-PCR) and DNA sequencing were performed to detect polymorphism of -1082G/A site and PCR-RFLP was used to determine the genotypes in -819T/C and -592A/C sites. One hundred and nineteen Chinese women with different stage EMs and 120 controls were employed in this study. Although there were no significant differences in the polymorphism of -1082 site between two groups (P>0.05), the frequencies of -819C, -592C alleles and -819 CC+TC, -592 CC+AC genotypes were significantly increased in EMs patients compared with the controls (P<0.05). The frequencies of -819C, -592C alleles and -819 CC+TC, -592 CC+AC genotypes were significantly increased in III-IV EMs patients compared with I-IIMs or controls (P<0.01). This suggests that polymorphisms of IL-10-819 (T/C) and -592 (A/C) may be associated with the susceptibility to EMs in Chinese population.
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遗传 ›› 2009, Vol. 31 ›› Issue (5): 479-479―484.doi: 10.3724/SP.J.1005.2009.00479 何佩;林俊;张信美;邓琳;马俊彦 - 浙江大学医学院附属妇产科医院, 杭州 310006 HE Pei;LIN Jun;ZHANG Xin-Mei;DENG Lin;MA Jun-Yan - The Obstetrics and Gynecology Hospital, College of Medicine, Zhejiang University, Hangzhou 310006, China 摘要： 为了探讨中国汉族妇女白细胞介素-10(IL-10)启动子的基因多态性与子宫内膜异位症(EMs)遗传易感性的关系, 文章应用扩增阻滞突变系统-聚合酶链反应(ARMS-PCR)结合DNA测序法, 以及聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析方法, 对119例不同期别的EMs组患者和120例随机抽取的汉族妇女进行了IL-10-1082G/A、-819T/C和-592A/C的基因多态性分析。结果表明: EMs组-1082等位基因频率和基因型分布与对照组比较, 差异无显著(P>0.05), 而EMs组-819C 或-592C、-819CC和TC或-592CC和AC的等位基因或基因型频率均显著高于对照组(P<0.05); 另外, Ⅲ-Ⅳ期EMs患者-819C 或-592C、-819CC和TC或-592CC和AC的等位基因或基因型频率又显著高于Ⅰ-Ⅱ期EMs患者和对照组(P<0.01)。这表明IL-10-819T/C和-592A/C位点多态性与中国汉族妇女EMs发病的易感性有一定关系。

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Condition tags

endometriosis

MeSH descriptors

Disease Susceptibility Endometriosis Genetic Predisposition to Disease Interleukin-10 Promoter Regions, Genetic Adult Asian People Asian People Disease Susceptibility Endometriosis Female Humans Interleukin-10 Polymorphism, Genetic Polymorphism, Restriction Fragment Length Sequence Analysis, DNA Vascular Endothelial Growth Factor A Vascular Endothelial Growth Factor A Vascular Endothelial Growth Factor A

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