Functional polymorphism within NUP210 encoding for nucleoporin GP210 is associated with the risk of endometriosis.
Fertil Steril
; 112(2): 343-352.e1, 2019 08.
Article
em En
| MEDLINE
| ID: mdl-31256999
ABSTRACT
OBJECTIVE:
To investigate whether nucleoporin 210 (GP210, encoded by NUP210 gene) is involved in endometriosis.DESIGN:
Immunohistofluorescence 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.SETTING:
University. 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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Uterinas
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Polimorfismo de Nucleotídeo Único
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Complexo de Proteínas Formadoras de Poros Nucleares
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Endometriose
Tipo de estudo:
Etiology_studies
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Observational_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Female
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Humans
Idioma:
En
Revista:
Fertil Steril
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Itália