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子宫内膜异位症与系统性红斑狼疮的共病现象:遗传学方面

Co-Occurrence of Endometriosis with Systemic Lupus Erythematosus: Genetic Aspects.

作者信息

Zervou Maria I, Tarlatzi Theoni B, Grimbizis Grigoris F, Niewold Timothy B, Tarlatzis Basil C, Bertsias George, Goulielmos George N

机构信息

Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, 71003 Heraklion, Greece.

Unit for Human Reproduction, 1st Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.

出版信息

Int J Mol Sci. 2025 Jul 16;26(14):6841. doi: 10.3390/ijms26146841.

DOI:10.3390/ijms26146841
PMID:40725086
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12295805/
Abstract

Previous studies have shown that patients with a history of endometriosis have an increased susceptibility for developing a big number of comorbidities, including various autoimmune diseases. Endometriosis is a complex, inflammatory, estrogen-dependent, heterogeneous gynecological disorder with an incidence of up to 10% in women of reproductive age. It is characterized by the implantation and growth of endometrial tissue outside the uterus and is associated with dysmenorrhea, deep dyspareunia, pelvic pain and infertility. Systemic lupus erythematosus (SLE) is a chronic, heterogeneous autoimmune disorder of the connective tissue, characterized by impaired innate and adaptive immune responses and the production of pathogenic autoantibodies that drive inflammation and damage in multiple organs. Its etiology is elusive yet associated with high heritability. Importantly, it has been found that endometriosis and SLE share some underlying molecular and cellular pathways. In the present study, we sought to delineate the co-occurrence of endometriosis with SLE from the biological and genetic viewpoint, aiming to identify the putative shared genetic components and clarify the underlying pathogenetic mechanisms. This information may contribute further to the design of new therapeutic protocols for both disorders under study.

摘要

先前的研究表明,有子宫内膜异位症病史的患者患多种合并症的易感性增加,包括各种自身免疫性疾病。子宫内膜异位症是一种复杂的、炎症性的、雌激素依赖性的、异质性的妇科疾病,在育龄妇女中的发病率高达10%。其特征是子宫内膜组织在子宫外植入和生长,并伴有痛经、深部性交困难、盆腔疼痛和不孕。系统性红斑狼疮(SLE)是一种慢性的、异质性的结缔组织自身免疫性疾病,其特征是先天性和适应性免疫反应受损,以及产生驱动多个器官炎症和损伤的致病性自身抗体。其病因尚不清楚,但与高遗传性有关。重要的是,已发现子宫内膜异位症和SLE有一些共同的分子和细胞途径。在本研究中,我们试图从生物学和遗传学角度描述子宫内膜异位症与SLE的共现情况,旨在识别假定的共享遗传成分并阐明潜在的发病机制。这些信息可能会进一步有助于为所研究的这两种疾病设计新的治疗方案。

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The multiple roles of interferon regulatory factor family in health and disease.干扰素调节因子家族在健康和疾病中的多重作用。
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Causal effects of endometriosis on SLE, RA and SS risk: evidence from meta-analysis and Mendelian randomization.
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Crucial Role of Gene Expression and Mutation in Systemic Lupus Erythematosus, Inferred from Computational and Experimental Approaches.从计算和实验方法推断基因表达和突变在系统性红斑狼疮中的关键作用
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Homozygous C677T Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism as a Risk Factor for Endometriosis: A Retrospective Case-Control Study.同型半胱氨酸 C677T 甲基四氢叶酸还原酶(MTHFR)多态性作为子宫内膜异位症的危险因素:一项回顾性病例对照研究。
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Genetic factors involved in the co‑occurrence of endometriosis with ankylosing spondylitis (Review).遗传因素与子宫内膜异位症伴强直性脊柱炎的共病(综述)。
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