CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome
AUTOR(ES)
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
FONTE
Genet. Mol. Biol.
DATA DE PUBLICAÇÃO
29/11/2018
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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