CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome

• Autor(a) principal: Santos,Luana Oliveira dos
• Data de Publicação: 2018
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Genetics and Molecular Biology
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727
• topic: CTLA-4 gene; immune genes; obesity; polymorphism; Turner syndrome

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.