Functional polymorphism within NUP210 encoding for nucleoporin GP210 is associated with the risk of endometriosis

Monica Cipollini, Cipollini M, Stefano Luisi, Piomboni P, Paola Piomboni, Alice Luddi, Debora Landi, Landi D, Ombretta Melaiu, Gisella Figlioli, Garritano S, Sonia Garritano, Valentina Cappelli, Cappelli V, Viganò P, Paola Viganò, Federica Gemignani, Gemignani F, Petraglia F, Felice Petraglia, Stefano Landi, Landi S
Fertility and sterility · 2019 · vol. 112(2) , pp. 343–352.e1 · doi:10.1016/j.fertnstert.2019.04.011 · PMID:31256999 · W2955733512
article OA: bronze CC0 ⤵ 3 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

This study investigated the association between a functional polymorphism in the NUP210 gene, encoding nucleoporin GP210, and the risk of developing endometriosis.

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Abstract

ObjectiveTo investigate whether nucleoporin 210 (GP210, encoded by NUP210 gene) is involved in endometriosis.DesignImmunohistofluorescence analysis for assessing whether GP210 is expressed in endometrial tissues from patients and controls; genotyping and case-control study for assessing the association between rs354476 within NUP210 and risk of endometriosis; in vitro luciferase assay for assessing the functional activity of rs354476.SettingUniversity.Patient(s)Histologically diagnosed cases (n = 175) of endometriosis: minimal or mild (stage I-II) in 48 cases (28%), moderate (stage III) in 69 cases (39%), and severe (stage IV) in 58 cases (33%). Controls (n = 557) were female blood donors collected at Meyer Hospital of Florence.Intervention(s)None.Main outcome measure(s)GP210 tissue expression; genotype distribution and risk of endometriosis; in vitro gene expression measurements.Result(s)GP210 had positive nuclear immunohistofluorescence staining in endometrial glandular epithelium. Carriers of the variant allele were associated with increased risks: C/T, odds ratio (OR) 1.83, 95% confidence interval (CI) 1.04-3.21; T/T, OR 2.55, 95% CI 1.36-4.80. In vitro, luciferase assay showed that rs354476 is a bona fide target for hsa-miR-125b-5p.Conclusion(s)Nucleoporin GP210 is involved in endometriosis. Rs354476 polymorphism affects the regulation of NUP210 gene expression by altering the binding with hsa-miR-125b-5p, a microRNA already known as playing an important role for endometriosis. This provides the rationale for the observed increased risk of endometriosis in carriers of the variant allele.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Nuclear Pore Complex Proteins Polymorphism, Single Nucleotide Uterine Diseases Adolescent Adult Case-Control Studies Endometriosis Endometriosis Female Genetic Predisposition to Disease Genotype Humans Nuclear Pore Complex Proteins Severity of Illness Index Uterine Diseases Uterine Diseases Young Adult

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