| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome
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| 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
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| Data: |
2018-12-01
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| Ano: |
2018
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| Palavras-chave: |
CTLA-4 gene
Immune genes
Obesity
Polymorphism
Turner syndrome
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| 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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/1678-4685-gmb-2017-0312
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.41 n.4 2018
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| Direitos: |
info:eu-repo/semantics/openAccess
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