Familial Aggregation of Childhood- and Adulthood-Onset Systemic Lupus Erythematosus

Autor(es)

Sinicato, Nailu Angelica ^[1] ; de Oliveira, Luciana ^[1] ; Lapa, AlineTamires ^[1] ; Postal, Mariana ^[1] ; Pelicari, Karinade de Oliveira ^[1] ; Costallat, Lilian T. L. ^[1] ; Marini, Roberto ^[1] ; Gil-da-Silva-Lopes, Vera Lucia ^[1] ; Niewold, Timothy B. ^[2] ; Appenzeller, Simone ^[1]

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Campinas - Brazil

^[2] NYU, Sch Med, New York, NY - USA

• Tipo de documento: Artigo Científico
• Fonte: ARTHRITIS CARE & RESEARCH; v. 72, n. 8, p. 1147-1151, AUG 2020.
• Citações Web of Science: 2

Resumo

Objective To assess the familial occurrence of systemic lupus erythematosus (SLE) in a large Brazilian cohort. Methods Consecutive patients withSLEwere recruited and stratified according to age at disease onset into childhood-onsetSLEor adult-onsetSLE. Each patient was personally interviewed regarding the history ofSLEacross 3 generations (first-, second-, and third-degree relatives). Recurrence rates were analyzed for each degree of relation. Results We included 392 patients withSLE(112 with childhood-onsetSLEand 280 with adult-onsetSLE). We identified 2,574 first-degree relatives, 5,490 second-degree relatives, and 6,805 third-degree relatives. In the combined overallSLEcohort, we observed a familialSLErecurrence rate of 19.4 in first-degree relatives, 5.4 in second-degree relatives, and 3.0 in third-degree relatives. Recurrence rates were higher for first- and second-degree relatives of patients with childhood-onsetSLEthan for first- and second-degree relatives of patients with adult-onsetSLE(25.2 versus 18.4 for first-degree, and 8.5 versus 4.5 for second-degree), while in third-degree relatives, recurrence rates were higher in adult-onsetSLEthan in childhood-onsetSLE(P= 2.2 x 10(-4)for differences in recurrence proportions between childhood-onsetSLEand adult-onsetSLE). There were no phenotypic differences in patients from multicase versus single-case families, and there was no sex-skewing observed in the offspring of patients withSLE. Conclusion The greater decline inSLErecurrence rate by generation in childhood-onsetSLEversus adult-onsetSLEsuggests a more polygenic and epistatic inheritance and suggests that adult-onsetSLEmay be characterized by fewer risk factors that are individually stronger. This finding suggests a higher genetic load in childhood-onsetSLEversus adult-onsetSLEand a difference in the genetic architecture of the disease based on age at onset. (AU)

• Processo FAPESP: 09/06049-6 - Determinação de marcadores séricos e do líquor associados a alterações estruturais e funcionais do sistema nervoso central no Lúpus eritematoso sistêmico
• Beneficiário: Simone Appenzeller
• Modalidade de apoio: Bolsas no Brasil - Jovens Pesquisadores
• Processo FAPESP: 09/15286-1 - Prevalência e fatores associados à sindrome metabolica no lupus eritematoso sistemico juvenil
• Beneficiário: Nailú Angélica Sinicato Martin
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica
• Processo FAPESP: 08/02917-0 - Determinação de marcadores séricos e do líquor associados a alterações estruturais e funcionais do sistema nervoso central no lúpus eritematoso sistêmico
• Beneficiário: Simone Appenzeller
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores