Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency

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dc.creatorCristiana Miranda Furtado
dc.creatorMariella Maciel
dc.creatorRui Ferriani
dc.creatorEster Silveira Ramos
dc.creatorRodrigo Calado
dc.creatorRosana Dos Reis
dc.creatorHeloise Luchiari
dc.creatorDaiana Chielli Pedroso
dc.creatorGislaine Kogure
dc.creatorLisandra Caetano
dc.creatorBárbara Santana
dc.creatorViviane Santana
dc.creatorCristina Benetti Pinto
dc.creatorFernando Marcos Dos Reis
dc.date.accessioned2023-10-05T23:01:35Z
dc.date.accessioned2025-09-08T22:49:40Z
dc.date.available2023-10-05T23:01:35Z
dc.date.issued2018
dc.identifier.doihttps://doi.org/10.1016/j.fertnstert.2018.04.017
dc.identifier.issn0015-0282
dc.identifier.urihttps://hdl.handle.net/1843/59240
dc.languagepor
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofFertility and Sterility
dc.rightsAcesso Aberto
dc.subjectMedicina
dc.subjectGenomas
dc.subject.otherAnovulation
dc.subject.otherEpigenetic mechanisms
dc.subject.otherDNA methylation
dc.subject.otherTrinucleotide repeats
dc.subject.otherGenomic instability
dc.titleSkewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency
dc.typeArtigo de periódico
local.citation.epage485.e1
local.citation.issue3
local.citation.spage476
local.citation.volume110
local.description.resumoObjective To analyze whether telomere length, X-chromosome inactivation (XCI), and androgen receptor (AR) GAG polymorphism are related to idiopathic premature ovarian insufficiency (POI). Design Case–control study. Setting University hospital. Patient(s) A total of 121 women, including 46 nonsyndromic POI and 75 controls. Intervention(s) None. Main Outcome Measure(s) Age, weight, height, body mass index (BMI), systolic and diastolic arterial pressure, E2, androstenedione, T, and C-reactive protein were assessed. Telomere length was estimated by quantitative real-time polymerase chain reaction, XCI was measured using the Human Androgen Receptor and X-linked retinitis pigmentosa 2 (RP2) methylation assays. AR and FMR1 polymorphism was assessed by quantitative fluorescent polymerase chain reaction and sequencing. Result(s) Premature ovarian insufficiency women had a higher mean age, weighed less, and exhibited lower C-reactive protein, E2, and androstenedione levels. The AR polymorphism did not differ between the groups. Four patients had premutation (55–200 CGG repeats), and none displayed a full mutation in the FMR1 gene. However, patients with POI showed shorter telomere length and higher frequency of skewed XCI. Extreme skewing (≥90%) was observed in 15% of women with POI, and shorter telomeres correlated with XCI skewing in both groups. Conclusion(s) Skewed XCI and shortened telomere length were associated with idiopathic POI, despite no alterations in the AR and FMR1 genes. Additionally, there is a tendency for women with short telomeres to exhibit skewed XCI. La inactivación sesgada del cromosoma X y los telómeros más cortos se asocian con insuficiencia ovárica prematura idiopática
local.identifier.orcidhttps://orcid.org/0000-0002-8711-8225
local.identifier.orcidhttps://orcid.org/0000-0003-0509-5339
local.identifier.orcidhttps://orcid.org/0000-0001-7253-2143
local.identifier.orcidhttps://orcid.org/0000-0002-1872-3130
local.identifier.orcidhttps://orcid.org/0000-0002-2860-846X
local.identifier.orcidhttps://orcid.org/0000-0001-6198-5593
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE GINECOLOGIA OBSTETRÍCIA
local.publisher.initialsUFMG
local.url.externahttps://www.sciencedirect.com/science/article/pii/S001502821830342X?via%3Dihub

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