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Androgen receptor CAG polimorfism and telomere length in premature ovarian failure

Grant number: 12/11566-2
Support type:Regular Research Grants
Duration: November 01, 2012 - June 30, 2015
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Rosana Maria dos Reis
Grantee:Rosana Maria dos Reis
Home Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
Assoc. researchers:Cristiana Libardi Miranda Furtado ; Rodrigo do Tocantins Calado de Saloma Rodrigues

Abstract

Premature ovarian failure (POF) is a heterogeneous disorder, clinically defined by permanent cessation of ovarian function before the age of 40 years, causing infertility. POF is a common condition affecting 1% of the female population and the diagnosis is established by amenorrhea, hypoestrogenism, and elevated FSH levels. The exact etiology is still unknown and may arise as secondary complications to order diseases or iatrogenic mechanisms, but in most cases it is idiopathic. Genetic and chromosome abnormalities are one of the most well known causes of POF, especially in X chromosome due to presence of essential genes for ovarian function. The Androgen Receptor gene (AR), located on the Xq11, is suggested as a marker for POF, because of its physiological role in ovarian development. The AR has a polymorphic repetitive DNA motif (CAGn) which is directly related to its expression, which has been inversely correlated with the AR function. Longer CAG repeat length can reduce the activity of the AR or even can silence the gene. The AR is proposed to have an association with telomeric proteins, playing a role in telomere stability, which is an important marker for cellular senescence that is lost with each cell division. In order to investigate the role of AR and telomere shortening in POF phenotype, and a possible correlation between these events, the present study aims to assess the repeat CAG polymorphism in the AR gene and telomere length in POF patients. (AU)

Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
PEDROSO, DAIANA C. C.; SANTANA, VIVIANE P.; DONAIRES, FLAVIA S.; PICINATO, MARIA C.; GIORGENON, ROBERTA C.; SANTANA, BARBARA A.; PIMENTEL, RICARDO N.; KEEFE, DAVID L.; CALADO, RODRIGO T.; FERRIANI, RUI A.; FURTADO, CRISTIANA L. M.; REIS, ROSANA M. Telomere Length and Telomerase Activity in Immature Oocytes and Cumulus Cells of Women with Polycystic Ovary Syndrome. REPRODUCTIVE SCIENCES, v. 27, n. 6 JAN 2020. Web of Science Citations: 0.
GIELEN, MARIJ; HAGEMAN, GEJA J.; ANTONIOU, EVANGELIA E.; NORDFJALL, KATARINA; MANGINO, MASSIMO; BALASUBRAMANYAM, MUTHUSWAMY; DE MEYER, TIM; HENDRICKS, AUDREY E.; GILTAY, ERIK J.; HUNT, STEVEN C.; NETTLETON, JENNIFER A.; SALPEA, KLELIA D.; DIAZ, VANESSA A.; FARZANEH-FAR, RAMIN; ATZMON, GIL; HARRIS, SARAH E.; HOU, LIFANG; GILLEY, DAVID; HOVATTA, IIRIS; KARK, JEREMY D.; NASSAR, HISHAM; KURZ, DAVID J.; MATHER, KAREN A.; WILLEIT, PETER; ZHENG, YUN-LING; PAVANELLO, SOFIA; DEMERATH, ELLEN W.; RODE, LINE; BUNOUT, DANIEL; STEPTOE, ANDREW; BOARDMAN, LISA; MARTI, AMELIA; NEEDHAM, BELINDA; ZHENG, WEI; RAMSEY-GOLDMAN, ROSALIND; PELLATT, ANDREW J.; KAPRIO, JAAKKO; HOFMANN, JONATHAN N.; GIEGER, CHRISTIAN; PAOLISSO, GIUSEPPE; HJELMBORG, JACOB B. H.; MIRABELLO, LISA; SEEMAN, TERESA; WONG, JASON; VAN DER HARST, PIM; BROER, LINDA; KRONENBERG, FLORIAN; KOLLERITS, BARBARA; STRANDBERG, TIMO; EISENBERG, DAN T. A.; DUGGAN, CATHERINE; VERHOEVEN, JOSINE E.; SCHAAKXS, ROXANNE; ZANNOLLI, RAFFAELA; DOS REIS, ROSANA M. R.; CHARCHAR, FADI J.; TOMASZEWSKI, MACIEJ; MONS, UTE; DEMUTH, ILJA; MOLLI, ANDREA ELENA IGLESIAS; CHENG, GUO; KRASNIENKOV, DMYTRO; D'ANTONO, BIANCA; KASIELSKI, MAREK; MCDONNELL, BARRY J.; EBSTEIN, RICHARD PAUL; SUNDQUIST, KRISTINA; PARE, GUILLAUME; CHONG, MICHAEL; ZEEGERS, MAURICE P.; GROUP, TELOMAAS. Body mass index is negatively associated with telomere length: a collaborative cross-sectional meta-analysis of 87 observational studies. AMERICAN JOURNAL OF CLINICAL NUTRITION, v. 108, n. 3, p. 453-475, SEP 2018. Web of Science Citations: 10.
MIRANDA-FURTADO, CRISTIANA L.; LUCHIARI, HELOISE R.; CHIELLI PEDROSO, DAIANA C.; KOGURE, GISLAINE S.; CAETANO, LISANDRA C.; SANTANA, BARBARA A.; SANTANA, VIVIANE P.; BENETTI-PINTO, CRISTINA L.; REIS, FERNANDO M.; MACIEL, MARIELLA A.; FERRIANI, RUI A.; RAMOS, ESTER S.; CALADO, RODRIGO T.; DOS REIS, ROSANA M. Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency. Fertility and Sterility, v. 110, n. 3, p. 476+, AUG 2018. Web of Science Citations: 0.

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