Methylation analysis of HOXA10 regulatory elements in patients with endometriosis

Pietro G Signorile, Anna Severino, Massimo Santoro, Maria Spyrou, Maria A. Spyrou, Rosa Viceconte, Alfonso Baldi
BMC research notes · 2018 · vol. 11(1) , pp. 722 · doi:10.1186/s13104-018-3836-1 · PMID:30309386 · PMC6182800 · W2897869147
article OA: gold CC0 ⤵ 13 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study found no significant differences in HOXA10 gene regulation region methylation between women with endometriosis and healthy controls.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-09 ⓘ

This study examined DNA methylation in regulatory regions of the HOXA10 gene in women with histologically confirmed endometriosis compared with healthy controls, using bisulfite conversion and bisulfite sequencing of three CpG islands (F1 in the 5′ upstream region plus fragments F2 and F3 in intronic regions) previously reported as hypermethylated in endometrium. The authors analyzed peripheral blood-derived genomic DNA (endometriosis n=20, controls n=6) and found no significant methylation differences between groups, with F1 showing similarly low methylation (~4–5%) in both, and F2/F3 being hypomethylated across all participants. They note that their negative results align with a prior genome-wide methylation study where HOXA10 alterations did not meet the analysis threshold. A major limitation explicitly stated is the limited number of enrolled endometriosis patients. This paper is centrally about endometriosis—specifically testing whether HOXA10 regulatory element methylation differs in endometriosis patients versus healthy controls.

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Abstract

OBJECTIVE: The pathogenesis of endometriosis is still mysterious, being retrograde menstruation and coelomic metaplasia the most accepted hypotheses. Recently, it has been proposed that endometriosis is caused by fine-tuning alterations of the female genital system development during the foetal life and that in utero exposition to endocrine disruptors can be one of the factors causing the disease, possibly acting on the methylation status of the genome. In this study, we have evaluated the methylation status of HOXA10 gene regulation regions in a cohort of 22 endometriosis patients respect to a control group of 6 healthy women. RESULTS: The methylation study was carried out on three CpG islands, previously described hypermethylated in the endometrium of endometriosis patients and include 22 CpG sites, 21 CpG sites and 10 CpG sites, respectively identified through the online platform MethPrimer. The analysis did not find significant differences between patients with endometriosis and healthy control individuals. These results confirm previous studies on genome wide methylation analysis in endometriosis patients. Therefore, other epigenetically altered genes should be considered more related to the pathogenesis of endometriosis.

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Condition tags

endometriosis

MeSH descriptors

DNA Methylation Endometriosis Epigenesis, Genetic Homeodomain Proteins Promoter Regions, Genetic Adult Cohort Studies CpG Islands Endometriosis Endometriosis Endometriosis Endometrium Endometrium Endometrium Female Homeobox A10 Proteins Homeodomain Proteins Homeodomain Proteins Humans

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