| Author | Sousa, Anna Paula Mota Duque | |
| Author | Costa, Giselle Calasans de Souza | |
| Author | Costa, Gustavo Nunes de Oliveira | |
| Author | Barbosa, Lúcio Macedo | |
| Author | Grassi, Maria Fernanda Rios | |
| Author | Monteiro, Maria Eduarda Haerdy | |
| Author | Reis, Mitermayer Galvão dos | |
| Author | Barreto, Maurício Lima | |
| Author | Pedreira, Ana Luisa | |
| Author | Ribeiro, Daniel Sá | |
| Author | Lins, Carolina Freitas | |
| Author | Galvão, Verena | |
| Author | Santos, Willer Gonçalves Dourado | |
| Author | Machicado, Viviane | |
| Author | Fonseca, Emanuela Pimenta da | |
| Author | Silva, Carla Baleeiro Rodrigues | |
| Author | Santiago, Mittermayer Barreto | |
| Access date | 2021-12-03T14:06:24Z | |
| Available date | 2021-12-03T14:06:24Z | |
| Document date | 2021 | |
| Citation | SOUSA, Anna Paula Mota Duque et al. Genetic Polymorphisms in Patients With Systemic Lupus Erythematosus and Jaccoud Arthropathy A Pilot Study. JCR: Journal of Clinical Rheumatology, v. 27, p. S193–S197, 2021. | pt_BR |
| ISSN | 1076-1608 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/50154 | |
| Sponsorship | *Escola Bahiana de Medicina e Saúde Pública; †Serviço de
Reumatologia do Hospital Universitário Professor Edgard Santos–
Universidade Federal da Bahia; ‡Instituto Gonçalo Muniz–Fundação
Oswaldo Cruz (Fiocruz); §Universidade Federal da Bahia; and ∥Serviços
Especializados em Reumatologia da Bahia, Salvador, Brazil. | pt_BR |
| Language | eng | pt_BR |
| Publisher | Lippincott, Williams & Wilkins | pt_BR |
| Rights | open access | pt_BR |
| Subject in Portuguese | Lúpus Eritematoso Sistêmico | pt_BR |
| Subject in Portuguese | Artropatias | pt_BR |
| Subject in Portuguese | Polimorfismo Genético | pt_BR |
| Title | Genetic Polymorphisms in Patients With Systemic Lupus Erythematosus and Jaccoud Arthropathy A Pilot Study | pt_BR |
| Type | Article | pt_BR |
| Abstract | 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 genewas 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. | pt_BR |
| Affilliation | "Múltipla ver em Notas" | pt_BR |
| Subject | Systemic lupus erythematosus | pt_BR |
| Subject | Jaccoud arthropathy | pt_BR |
| Subject | Genetic polymorphisms | pt_BR |
| e-ISSN | 10.1097/RHU.0000000000001653 | |
