Trp28Arg/Ile35Thr LHB gene variants are associated with elevated testosterone levels in women with polycystic ovary syndrome

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorBATISTA, Mariani Carla Prudente
dc.contributor.authorDUARTE, Eliane de Fatima
dc.contributor.authorBORBA, Michele Delarmelina dos Reis
dc.contributor.authorZINGLER, Emilie
dc.contributor.authorMANGUSSI-GOMES, Joao
dc.contributor.authorSANTOS, Beatriz Taynara Araujo dos
dc.contributor.authorMORAES, Olivia Laquis de
dc.contributor.authorHAYASHIDA, Sylvia Asaka Yamashita
dc.contributor.authorBARACAT, Edmund C.
dc.contributor.authorNEVES, Francisco de Assis da Rocha
dc.contributor.authorMACIEL, Gustavo Arantes Rosa
dc.contributor.authorBACHEGA, Tania Aparecida Sartori Sanchez
dc.contributor.authorBARRA, Gustavo Barcelos
dc.contributor.authorLOFRANO-PORTO, Adriana
dc.date.accessioned2015-02-06T19:45:08Z
dc.date.available2015-02-06T19:45:08Z
dc.date.issued2014
dc.description.abstractIntroduction: Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder, of multifactorial etiology, which affects 6-10% of women of reproductive age. It is considered the leading cause of anovulatory infertility, menstrual disorders and hyperandrogenism in this population. The genetic basis of PCOS is still largely unknown despite significant family clustering; determining its mode of inheritance is particularly difficult given the heterogenic presentation of the disease. Materials and methods: 130 Brazilian women, aged 14-42 years, who met the 2003 Rotterdam criteria for PCOS diagnosis, were included, and 96 healthy women constituted the control group. Presence of hirsutism was classified using the modified Ferriman-Gallwey score (F-G score) as absent (<= 7), mild (8-14), and severe (>= 15). Blood levels of luteinizing hormone (LH), total testosterone (TT), dehydroepiandrosterone sulfate (DHEA-S) and androstenedione were determined. The coding region of the luteinizing hormone beta-subunit (LHB) gene was amplified and sequenced. Differences in allelic and genotypic frequency distribution of each polymorphism across controls and cases were estimated by the Mantel-Haenszel chi-square or Fisher's exact test (p < 0.05), and the probability of an association between the detection of a polymorphism and presence of a diagnosis of PCOS, by logistic regression. Result(s): Sequencing detected 8 polymorphisms in the LHB gene coding region. Two polymorphisms in linkage disequilibrium were significantly more prevalent in the presence of hyperandrogenemia: rsl 800447/rs34349826 (Trp28Arg/Ile35Thr) (p = 0.02). Conclusion(s): In this series, a modulatory effect of LHB polymorphisms on hyperandrogenemia phenotype of PCOS was observed; however, this finding needs to be replicated in other populations.
dc.description.indexMEDLINE
dc.description.sponsorshipSabin Institute and Laboratory (Brasilia, DF)
dc.description.sponsorshipFAP-DF [193.000.407/2010]
dc.description.sponsorshipCNPq [308318/2012-9]
dc.identifier.citationGENE, v.550, n.1, p.68-73, 2014
dc.identifier.doi10.1016/j.gene.2014.08.017
dc.identifier.eissn1879-0038
dc.identifier.issn0378-1119
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/8508
dc.language.isoeng
dc.publisherELSEVIER SCIENCE BV
dc.relation.ispartofGene
dc.rightsrestrictedAccess
dc.rights.holderCopyright ELSEVIER SCIENCE BV
dc.subjectPolycystic ovary syndrome
dc.subjectLHB gene
dc.subjectGene polymorphism
dc.subjectHyperandrogenemia
dc.subjectHirsutism
dc.subject.otherhormone beta-subunit
dc.subject.otherandrogen receptor gene
dc.subject.othercag repeat polymorphism
dc.subject.otherluteinizing-hormone
dc.subject.otherincreased prevalence
dc.subject.otherhirsute women
dc.subject.otherpopulation
dc.subject.othermutations
dc.subject.otherdna
dc.subject.wosGenetics & Heredity
dc.titleTrp28Arg/Ile35Thr LHB gene variants are associated with elevated testosterone levels in women with polycystic ovary syndrome
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryCanadá
hcfmusp.affiliation.countryisoca
hcfmusp.author.externalBATISTA, Mariani Carla Prudente:Univ Brasilia UnB, Hosp Univ Brasilia, Unidade Endocrinol, Ambulatorio Endocrinol Gonadas & Adrenais, Brasilia, DF, Brazil; Hosp Reg Taguatinga, Unidade Endocrinol, Brasilia, DF, Brazil
hcfmusp.author.externalDUARTE, Eliane de Fatima:Univ Brasilia, HUB, Dept Psiquiatria, Brasilia, DF, Brazil; McGill Univ, Dept Family Med, Montreal, PQ H3A 2T5, Canada
hcfmusp.author.externalBORBA, Michele Delarmelina dos Reis:Univ Brasilia UnB, Hosp Univ Brasilia, Unidade Endocrinol, Ambulatorio Endocrinol Gonadas & Adrenais, Brasilia, DF, Brazil
hcfmusp.author.externalZINGLER, Emilie:Univ Brasilia UnB, Hosp Univ Brasilia, Unidade Endocrinol, Ambulatorio Endocrinol Gonadas & Adrenais, Brasilia, DF, Brazil; Univ Brasilia, Fac Ciencias Saude, Lab Farmacol Mol, Brasilia, DF, Brazil
hcfmusp.author.externalMANGUSSI-GOMES, Joao:Univ Brasilia UnB, Hosp Univ Brasilia, Unidade Endocrinol, Ambulatorio Endocrinol Gonadas & Adrenais, Brasilia, DF, Brazil
hcfmusp.author.externalSANTOS, Beatriz Taynara Araujo dos:Univ Brasilia, Fac Ciencias Saude, Lab Farmacol Mol, Brasilia, DF, Brazil
hcfmusp.author.externalMORAES, Olivia Laquis de:Univ Brasilia, Fac Ciencias Saude, Lab Farmacol Mol, Brasilia, DF, Brazil
hcfmusp.author.externalNEVES, Francisco de Assis da Rocha:Univ Brasilia, Fac Ciencias Saude, Lab Farmacol Mol, Brasilia, DF, Brazil
hcfmusp.author.externalBARRA, Gustavo Barcelos:Lab & Inst Sabin, Unidade Biol Mol, Brasilia, DF, Brazil
hcfmusp.author.externalLOFRANO-PORTO, Adriana:Univ Brasilia UnB, Hosp Univ Brasilia, Unidade Endocrinol, Ambulatorio Endocrinol Gonadas & Adrenais, Brasilia, DF, Brazil; Univ Brasilia, Fac Ciencias Saude, Lab Farmacol Mol, Brasilia, DF, Brazil
hcfmusp.citation.scopus10
hcfmusp.contributor.author-fmusphcSYLVIA ASAKA YAMASHITA HAYASHIDA
hcfmusp.contributor.author-fmusphcEDMUND CHADA BARACAT
hcfmusp.contributor.author-fmusphcGUSTAVO ARANTES ROSA MACIEL
hcfmusp.contributor.author-fmusphcTANIA APARECIDA SARTORI SANCHEZ BACHEGA
hcfmusp.description.beginpage68
hcfmusp.description.endpage73
hcfmusp.description.issue1
hcfmusp.description.volume550
hcfmusp.origemWOS
hcfmusp.origem.scopus2-s2.0-84906934892
hcfmusp.origem.wosWOS:000342274500009
hcfmusp.publisher.cityAMSTERDAM
hcfmusp.publisher.countryNETHERLANDS
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