| Revue: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000424479 |
| ISSN: | 1415-4757 |
| Autores: | Santos, Luana Pereira dos1 Bispo, Adriana Valéria Sales2 Barros, Juliana Vieira de1 Laranjeira, Raysa Samanta Moraes1 Pinto, Rafaella do Nascimento1 Silva, Jaqueline de Azevêdo1 Duarte, Andréa de Rezende3 Araujo, Jacqueline4 Sandrin-Garcia, Paula1 Crovella, Sergio1 Bezerra, Marcos André Cavalcanti5 Belmont, Taciana Furtado de Mendonça6 Cavalcanti, Maria do Socorro6 Santos, Neide1 |
| Instituciones: | 1Universidade Federal de Pernambuco, Departmento de Genética, Recife, Pernambuco. Brasil 2Instituto Federal de Educacao Ciencia e Tecnologia do Sertao Pernambucano, Serra Talhada, Pernambuco. Brasil 3Instituto de Medicina Integral Professor Fernando Figueira, Servico de Genetica Medica, Recife, Pernambuco. Brasil 4Universidade Federal de Pernambuco, Serviço de Endocrinologia Pediátrica, Recife, Pernambuco. Brasil 5Universidade Federal de Pernambuco, Departmento de Biofísica e Radiobiologia, Recife, Pernambuco. Brasil 6Universidade de Pernambuco, Instituto de Biociencias, Recife, Pernambuco. Brasil |
| Año: | 2018 |
| Periodo: | Dic |
| Volumen: | 41 |
| Número: | 4 |
| Paginación: | 727-734 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico |
| Resumen en inglés | 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 |
| Disciplinas: | Biología, Medicina |
| Palabras clave: | Genética, Inmunología, Endocrinología, Gen CTLA-4, Genes de respuesta inmune, Obesidad, Polimorfismo, Síndrome de Turner |
| Keyword: | Genetics, Immunology, Endocrinology, CTLA-4 gene, Immune response genes, Obesity, Polymorphism, Turner syndrome |
| Texte intégral: | Texto completo (Ver PDF) |
