MicroRNA Variants miR-27a rs895819 and miR-423 rs6505162, but not miR-124-1 rs531564, are Linked to Endometriosis and its Severity

Saidi Jaafar, S O Jaafar, J O Jaffar, Jade Jaffar, S A Ibrahim, K K Jarjees, Khanzad Khudhur Jarjees
British journal of biomedical science · 2022 · vol. 79 , pp. 10207 · doi:10.3389/bjbs.2021.10207 · PMID:35996508 · PMC8915672 · W4210655214
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

MicroRNA variants miR-27a rs895819 and miR-423 rs6505162, but not miR-124-1 rs531564, were significantly associated with endometriosis and its severity in a study of 440 women.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-10 ⓘ

This case-control study evaluated whether three microRNA gene variants (miR-27a rs895819A>G, miR-124-1 rs531564G>C, and miR-423 rs6505162A>C) are associated with endometriosis, genotyping 220 laparoscopically confirmed endometriosis cases (staged I–IV) and 220 endometriosis-free controls using PCR-RFLP. The authors found significant associations for rs895819 and rs6505162 with endometriosis across multiple inheritance and allelic models, while rs531564 showed no linkage to endometriosis. In analyses by disease severity (mild vs severe), rs895819 (AG genotype and G allele) and rs6505162 (AA/AC genotypes; AC genotype and C allele effects) were associated with protective patterns toward severity. The study excluded women with adenomyosis and did not report any explicit adjustment for potential confounders beyond the stated exclusion criteria, which may limit generalizability. This paper is centrally about endometriosis — it tests miRNA SNP associations (miR-27a rs895819 and miR-423 rs6505162) with disease presence and severity.

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Abstract

Background: While different studies have investigated the association of SNPs with female reproductive disorders, a limited number of studies have investigated the effect of microRNAs variants in endometriosis. In this study, we evaluated the prevalence and the association of three different miRNAs variants including, miR-27a rs895819, miR-124-1 rs531564, and miR-423 rs6505162 with endometriosis to help further elucidate the importance of these variants in female reproductive disorders. Methods: A total number of 440 women (220 cases and 220 controls) were included. DNA was extracted and genotyping of the SNPs was carried out by PCR. Results: The results showed that rs895819 and rs6505162 had a significant association with endometriosis under the dominant, recessive, co-dominant, and allelic model, but rs531564 was not linked to endometriosis. Our results also imply a protective effect on endometriosis severity for AG genotype and G allele in rs895819 ( p < 0.001), and also for AA and AC genotypes in rs6505162 with severity in endometriosis ( p < 0.001). Moreover, Hardy–Weinberg equilibrium, haplotype frequency, and linkage disequilibrium between SNPs were performed. Conclusion: miR-27a rs895819 and miR-423 rs6505162, but not miR-124-1 rs531564, are linked to endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis MicroRNAs MicroRNAs MicroRNAs MicroRNAs MicroRNAs MicroRNAs MicroRNAs MicroRNAs

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