Data/hora: 10/06/2024 11:51:51

Provedor de dados: | 74
País: | Brazil
Título: | CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome
Autores: | 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.
Data: | 2018-12-01
Ano: | 2018
Palavras-chave: | CTLA-4 gene; Immune genes; Obesity; Polymorphism; Turner syndrome.
Resumo: | 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 addition, an association between the CTLA-4 G/G genotype and obesity was detected in TS patients (p=0.02, OR=6.04). Regarding, the -550(H/L) polymorphism in the MBL2 promoter, the frequency of the H/L genotype was significantly higher in the TS group than healthy controls (p=0.01, OR=1.96). The H/H genotype indicated a protective effect in TS patients (p=0.01, OR=0.23). No differences were observed in the distribution of -221(X/Y), MBL2 exon 1 variants, and PTPN22 +1858G/A in any assessed groups. CTLA-4 variants are potentially involved in obesity in this cohort of TS patients from northeastern Brazil.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-gmb-2017-0312
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.41 n.4 2018
Fonte: | info:eu-repo/semantics/openAccess