تالیفات

 

Characterization of the major histocompatibility complex locus association with Behçet’s disease in Iran

مولف: Joana M Xavier1, 2, Fereydoun Davatchi3, Olga Abade4, Farhad Shahram3, Vânia Francisco1, 2, Bahar Sadeghi Abdollahi3, Hélder Trindade4, Abdolhadi Nadji3, Niloofar Mojarad Shafiee3, Fahmida Ghaderibarmi3, Dário Ligeiro4 and Sofia A Oliveira1, 2*

خلاصه: Introduction: 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 study on 973 BD patients and 825 controls from Iran, and the association of HLA-B ... سال انتشار: 2015
 

IL10 low-frequency variants in Behcet’s disease patients

Authers: Mafalda MATOS, 1, 2 Joana M. XAVIER, 1, 2 Patrıcia ABRANTES, 1, 2 In^es SOUSA, 1, 2 Nadia REI, 1, 2 Fereydoun DAVATCHI, 3 Farhad SHAHRAM, 3 Gorete JESUS, 4 Filipe BARCELOS, 5 Joana VEDES, 6 Manuel SALGADO, 7

Abstract: 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 Behcet’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 ... سال انتشار: 2014
 

Gene expression profiling and association studies implicate the neuregulin signaling pathway in Behçet's disease susceptibility

Authers: Joana M. Xavier & Tiago Krug & Fereydoun Davatchi & Farhad Shahram & Benedita V. Fonseca & Gorete Jesus & Filipe Barcelos & Joana Vedes & Manuel Salgado & Bahar Sadeghi Abdollahi & Abdolhadi Nadji & Maria Francisca Moraes-Fontes & Niloofar Mojarad Shafiee

Abstract: Behçet'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 controls using Affymetrix microarrays and found that the neuregulin signaling pathway was over-represented among the differentially expressed genes. The Epiregulin (EREG), Amphiregulin (AREG), ... سال انتشار: 2013
 

Association Study of IL10 and IL23R–IL12RB2 in Iranian Patients With Behc¸et’s Disease

Authers: Joana M. Xavier, 1 Farhad Shahram, 2 Fereydoun Davatchi, 2 Alexandra Rosa, 3 Jorge Crespo, 4 Bahar Sadeghi Abdollahi, 2 Abdolhadi Nadji, 2 Gorete Jesus, 5 Filipe Barcelos, 6 Jose´ Vaz Patto, 6 Niloofar Mojarad Shafiee, 2 Fahmida Ghaderibarim, 2 and Sofia A. Oliveira1

Abstract: Independent replication of the findings from genome-wide association studies (GWAS) remains the gold standard for results validation. Our aim was to test the association of Behc¸et’s disease (BD) with the interleukin-10 gene (IL10) and the IL-23 receptor–IL-12 receptor 2 (IL23R–IL12RB2) locus, each of which has been previously identified as a risk factor for BD in 2 different GWAS. Methods. Six haplotype-tagging single-nucleotide polymorphisms (SNPs) in IL10 and 42 in IL23R–IL12RB2 were genotyped in 973 Iranian patients with BD and 637 non-BD ... سال انتشار: 2012
 

Association of mitochondrial polymorphism m.709G>A with Behçet’s disease

Authers: Joana M Xavier, Niloofar Mojarad Shafiee, Fahmida Ghaderi

Abstract: The involvement of nuclear genes in Behçet’s disease (BD) risk has been investigated, but the role of the mitochondrial DNA (mtDNA) has been completely neglected. Mitochondria are the main intracellular source of reactive oxygen species produced during normal aerobic metabolism via the electron transport chain and since mitochondrial dysfunction may underlie a multitude of clinical features in multifactorial and multisystemic diseases such as BD, we assessed whether mtDNA single nucleotide polymorphisms (SNPs) and haplogroups confer susceptibility to BD. A total ... سال انتشار: 2011