4 documents found, page 1 of 1
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...
FUT2: filling the gap between genes and environment in Behçet's disease?
Xavier, Joana; Sousa, Inês; Matos, Mafalda; Sobral, João; Ghaderibarmi, Fahmida; Shahram, Farhad; Nadji, Abdolhadi; Oliveira, Manuela; Shafiee, MojaradBackground Behçet’s disease (BD) is a multisystemic immune and inflammatory disorder whose aetiology remains unclear. In order to identify novel susceptibility loci, we performed the first genome-wide association study (GWAS) for BD in the Iranian population using a DNA pooling strategy. Methods Two replicate pools of 292 BD cases and of 294 age- and sex-matched controls were allelotyped in quadruplicate on the...
Characterization of the major histocompatibility complex locus association with...
Xavier, Joana M; Davatchi, Fereydoun; Abade, Olga; Shahram, Farhad; Francisco, Vânia; Abdollahi, Bahar Sadeghi; Trindade, Hélder; Nadji, AbdolhadiIntroduction: The aim of this study was to characterize the association of human leukocyte antigen (HLA) B alleles and major histocompatibility complex (MHC) single nucleotide polymorphisms (SNPs) with Behçet's disease (BD) in an Iranian dataset. Methods: The association of three SNPs in the MHC region previously identified as the most associated in high-density genotyping studies was tested in a case-control s...
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...