Authors
Mafalda Matos, Joana M Xavier, Patrícia Abrantes, Inês Sousa, Nádia Rei, Fereydoun Davatchi, Farhad Shahram, Gorete Jesus, Filipe Barcelos, Joana Vedes, Manuel Salgado, Bahar Sadeghi Abdollahi, Abdolhadi Nadji, Maria Francisca Moraes‐Fontes, Niloofar Mojarad Shafiee, Fahmida Ghaderibarmi, José Vaz Patto, Jorge Crespo, Sofia A Oliveira
Publication date
2017/5
Journal
International Journal of Rheumatic Diseases
Volume
20
Issue
5
Pages
622-627
Description
Aim
To explain the missing heritability after the genome‐wide association studies era, sequencing studies allow the identification of low‐frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low‐frequency IL10 variants in BD susceptibility.
Methods
To identify IL10 low‐frequency variants, a discovery group of 50 Portuguese BD patients were Sanger‐sequenced in a 7.7 kb genomic region encompassing the complete IL10 gene, 0.9 kb upstream and 2 kb downstream, and two conserved regions in the putative promoter. To assess if the novel variants are BD‐ and/or Portuguese‐specific, they were assayed in an additional group of BD patients (26 Portuguese and 964 Iranian) and controls (104 Portuguese and 823 Iranian).
Results
Rare IL10 …
Total citations
Scholar articles
M Matos, JM Xavier, P Abrantes, I Sousa, N Rei… - International Journal of Rheumatic Diseases, 2017