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IL10 low-frequency variants in Behçet's disease patients
Ramos De Matos, Mafalda; Xavier, Joana M; Abrantes, Patrícia; Sousa, Inês; Rei, Nádia; Davatchi, Fereydoun; Shahram, Farhad; Jesus, GoreteAim: 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...
Gene expression profiling and association studies implicate the neuregulin sign...
Xavier, Joana M; Krug, Tiago; Davatchi, Fereydoun; Shahram, Farhad; Fonseca, Benedita V.; Jesus, Gorete; Barcelos, Filipe; Vedes, Joana; Salgado, ManuelBehçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched contro...