Vannuccini Silvia, Manzi Virginia, Tarocchi Mirko, Donati Nico, La Torre Francesco, Toscano Federico, Calabrò Antonino Salvatore, Petraglia Felice
Department of Experimental, Clinical and Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.
Department of Maternal and Child Health, Careggi University Hospital, Florence, Italy.
Am J Reprod Immunol. 2025 Apr;93(4):e70079. doi: 10.1111/aji.70079.
Immunological abnormalities are well recognized in the pathogenesis of endometriosis and the co-existence of endometriosis with inflammatory bowel disease (IBD) and celiac disease (CD), along with other systemic immune disorders, is clinically relevant. Recent genetic studies revealed some shared genetic traits associated with the co-occurrence of endometriosis with different gastrointestinal or autoimmune disorders, highlighting common biological pathways. Since class II human leukocyte antigen (HLA) genes, HLA-DQ2 and -DQ8, show the strongest and best-characterized genetic susceptibility for CD, the present study aims to explore the presence of these haplotypes in non-celiac patients with endometriosis.
A group of patients with endometriosis (n = 126) participated in the study and were compared to healthy women (n = 379), as controls. Subjects who were diagnosed with CD or who tested positive for CD antibodies were excluded. All patients and controls were genotyped for HLA haplotypes predisposing to CD (DQ2, DQ8). In the group of endometriosis patients who tested positive for DQ2 and/or DQ8, symptoms were also investigated.
At least one of the HLA-DQ2 and -DQ8 genotypes was detected in 43.3% of non-celiac endometriosis patients (OR: 1.82, 95% CI: 1.11-2.81), whereas 29.5% (p < 0.01) of healthy women presented HLA haplotypes predisposing to CD. In endometriosis patients, no significant difference was shown between positive and negative in terms of endometriosis phenotype, or gynecological, and non-gynecological symptoms.
Our data revealed a significantly greater prevalence of predisposing haplotypes for CD in non-celiac patients with endometriosisthan in healthy subjects, suggesting that a common genetic background may explain the co-occurrence of endometriosis and CD.
免疫异常在子宫内膜异位症的发病机制中已得到充分认识，子宫内膜异位症与炎症性肠病（IBD）和乳糜泻（CD）以及其他全身性免疫疾病并存具有临床相关性。最近的基因研究揭示了一些与子宫内膜异位症与不同胃肠道或自身免疫性疾病同时发生相关的共同遗传特征，突出了共同的生物学途径。由于人类白细胞抗原（HLA）II类基因HLA - DQ2和 - DQ8对CD表现出最强且特征最明确的遗传易感性，本研究旨在探讨这些单倍型在非乳糜泻子宫内膜异位症患者中的存在情况。
一组子宫内膜异位症患者（n = 126）参与了本研究，并与作为对照的健康女性（n = 379）进行比较。排除诊断为CD或CD抗体检测呈阳性的受试者。对所有患者和对照进行了易患CD的HLA单倍型（DQ2、DQ8）基因分型。在DQ2和/或DQ8检测呈阳性的子宫内膜异位症患者组中，还对症状进行了调查。
43.3%的非乳糜泻子宫内膜异位症患者检测到至少一种HLA - DQ2和 - DQ8基因型（OR：1.82，95%CI：1.11 - 2.81），而29.5%（p < 0.01）的健康女性呈现出易患CD的HLA单倍型。在子宫内膜异位症患者中，就子宫内膜异位症表型、妇科和非妇科症状而言，阳性和阴性之间未显示出显著差异。
我们的数据显示，非乳糜泻子宫内膜异位症患者中易患CD的单倍型患病率显著高于健康受试者，这表明共同的遗传背景可能解释了子宫内膜异位症和CD的同时发生。
