Genetic Polymorphisms in Patients With Systemic Lupus Erythematosus and Jaccoud Arthropathy: A Pilot Study.

Autor:	Sousa APMD, de Souza Costa GC, de Oliveira Costa GN; Universidade Federal da Bahia., Barbosa LM; Instituto Gonçalo Muniz-Fundação Oswaldo Cruz (Fiocruz)., Grassi MFR; Instituto Gonçalo Muniz-Fundação Oswaldo Cruz (Fiocruz)., Monteiro MEH; Universidade Federal da Bahia., Dos Reis MG; Instituto Gonçalo Muniz-Fundação Oswaldo Cruz (Fiocruz)., Barreto ML; Instituto Gonçalo Muniz-Fundação Oswaldo Cruz (Fiocruz)., Pedreira AL; From the Escola Bahiana de Medicina e Saúde Pública., Ribeiro DS; From the Escola Bahiana de Medicina e Saúde Pública., Lins CF; From the Escola Bahiana de Medicina e Saúde Pública., Galvão V; From the Escola Bahiana de Medicina e Saúde Pública., Santos WGD; From the Escola Bahiana de Medicina e Saúde Pública., Machicado V, da Fonseca EP; From the Escola Bahiana de Medicina e Saúde Pública., Silva CBR; Serviço de Reumatologia do Hospital Universitário Professor Edgard Santos-Universidade Federal da Bahia., Santiago MB
Jazyk:	angličtina
Zdroj:	Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases [J Clin Rheumatol] 2021 Sep 01; Vol. 27 (6S), pp. S193-S197.
DOI:	10.1097/RHU.0000000000001653
Abstrakt:	Introduction: Jaccoud arthropathy (JA) is a nonerosive and deforming arthropathy experienced frequently by patients with systemic lupus erythematosus (SLE). Although genetic polymorphisms are associated with SLE development, the association between genetic polymorphisms and JA has not been studied to date. The main objective of this study was to evaluate an association between HLA, STAT4, IRF5, and BLK polymorphisms and the presence of JA in Brazilian individuals with SLE. Methods: Patients were selected from a cohort of individuals with SLE followed at 2 rheumatology reference centers in Salvador, Bahia, Brazil. The JA diagnosis was based on clinical and radiological criteria. The participants were genotyped for rs9271100, rs7574865, rs10488631, and rs13277113 polymorphisms in the HLA, STAT4, IRF5, and BLK genes, respectively, using real-time polymerase chain reaction. The presence of JA was correlated with allele frequencies, and clinical and laboratory data. Results: One hundred forty-four individuals with SLE (38 with JA and 106 with SLE without JA) were studied. The mean age of the patients was 45 ± 12 years; the majority were women and had brown skin. Patients with JA had a longer disease duration than patients without JA. Serositis and neuropsychiatric manifestations were more frequent in the JA population. The A allele of rs13277113 in the BLK gene was associated with the presence of JA. Conclusions: The rs13277113 polymorphism in the BLK gene was found to be a possible genetic risk for JA development. However, further studies in larger populations should be performed to confirm this finding. Competing Interests: The authors declare no conflict of interest. (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu