Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2359
Título: Annexin A11 gene polymorphism (R230C variant) and sarcoidosis in a Portuguese population
Autor: Morais, A.
Lima, B.
Peixoto, M.
Melo, N.
Alves, H.
Marques, J.A.
Delgado, L.
Palavras-chave: ANXA11
Löfgren Syndrome
Evolution
rs1049550 Single Nucleotide Polymorphism
Portugal
Saúde Pública
Data: Set-2013
Editora: John Wiley and Sons/ European Federation for Immunogenetics (EFI)
Citação: Tissue Antigens. 2013 Sep;82(3):186-91. doi: 10.1111/tan.12188
Resumo: A recent genome-wide association study detected a protective effect for the annexin A11 rs1049550*T allele (R230Cvariant) in susceptibility to sarcoidosis. We evaluated the association between rs1049550 C/T and sarcoidosis susceptibility, distinct disease phenotypes and evolution in a Portuguese population. We performed a case-control study of 208 patients and 197 healthy controls. Samples were genotyped for rs1049550 C/T using real-time polymerase chain reaction. The frequency of the annexin A11 rs1049550*T allele was significantly lower in patients than in controls (33.2 vs 44.9%, P < 0.001). Odds ratio of 0.52 and 0.44 were obtained, respectively for carriers of one (CT) and two (TT) copies normalized to the CC wild-type genotype (P < 0.001). There were no significant differences in patients with and without Löfgren syndrome. A significant increase in the frequency of the T allele was observed in patients with bronchoalveolar lavage (BAL) fluid neutrophilia (P = 0.04). No significant associations were seen for lung function pattern, radiological stages or different forms of disease evolution. Our study confirms that rs1049550*T allele exerts a significant protective effect on sarcoidosis susceptibility. Given the role of annexin A11 in cell division, apoptosis and neutrophil function, this polymorphism may affect key elements of granulomatous and interstitial inflammation in sarcoidosis.
Descrição: Helena Alves - investigadora do Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis do INSA (Porto)
Peer review: yes
URI: http://hdl.handle.net/10400.18/2359
DOI: doi:10.1111/tan.12188
ISSN: 0001-2815
Versão do Editor: http://onlinelibrary.wiley.com/doi/10.1111/tan.12188/abstract;jsessionid=4A53B42012714289C9749A5B2FFB3801.f02t02
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