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CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome Genet. Mol. Biol.
Santos,Luana Oliveira dos; Bispo,Adriana Valéria Sales; Barros,Juliana Vieira de; Laranjeira,Raysa Samanta Moraes; Pinto,Rafaella do Nascimento; Silva,Jaqueline de Azevêdo; Duarte,Andréa de Rezende; Araújo,Jacqueline; Sandrin-Garcia,Paula; Crovella,Sergio; Bezerra,Marcos André Cavalcanti; Belmont,Taciana Furtado de Mendonça; Cavalcanti,Maria do Socorro; Santos,Neide.
Abstract Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CTLA-4 gene; Immune genes; Obesity; Polymorphism; Turner syndrome.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727
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Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals Genet. Mol. Biol.
Santos,Kelly; Lemos-Marini,Sofia H.V.; Baptista,Maria T.M.; Bonadia,Luciana Cardoso; Pinto Júnior,Walter; Bertuzzo,Carmen Sílvia.
Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. We determined the frequencies of MTHFR 677C -> T and 1298A -> C polymorphic mutations in 49 patients with TS and 200 control individuals. The frequency of the 677C -> T allele was 0.39 for patients and 0.29 for controls while that of the 1298A -> C allele was 0.28 for patients and 0.25 for controls. Genotype frequencies were shown to be different in patients and controls (chi2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the C677C -> T /677C -> T...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chromosomal non-disjunction; MTHFR gene; Turner syndrome.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100008
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Diurnal cortisol slope in girls and adolescents with diagnosis of turner syndrome JBAG
López,M.C; Aguilar,M.J; Zabaleta,V; Bakker,L.
Turner Syndrome is a non-inheritable chromosomal abnormality with highest incidence in female population. Women diagnosed with this condition present atypical brain morphology which includes hippocampal and amygdalar disorders. Both structures are key to the regulation of daily cortisol concentrations. This study analyzes diurnal cortisol slope in girls and adolescents diagnosed with Turner Syndrome. The aim of our study is to establish possible associations with the atypical brain morphology described for this population. A competitive radioimmunoassay was conducted on salivary cortisol samples obtained at 8 a.m. and 6:00 p.m. for two days, at a school and rest day. Descriptive statistical analyses were performed and their average values compared with a...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Turner syndrome; Diurnal cortisol slope; Salivary cortisol.
Ano: 2011 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332011000200006
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Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome BJMBR
Araújo,A.; Ramos,E.S..
The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Turner syndrome; X-inactivation; HUMARA assay; DNA methylation; Criptic mosaicism.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000500004
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