14 research outputs found
Gene Expression Profiling and Association Studies Implicate the Neuregulin Signaling Pathway in Behçet's Disease Susceptibility
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), and Neuregulin-1 (NRG1) genes of this pathway stand out as they are also among the top differentially expressed genes. Twelve haplotype tagging
SNPs at the EREG-AREG locus and 15 SNPs in NRG1 found associated in at least one published BD genome-wide association
study were tested for association with BD in a dataset of 976 Iranian patients and 839 controls. We found a novel association with BD for the rs6845297 SNP located downstream of EREG, and replicated three associations at NRG1 (rs4489285, rs383632, and rs1462891). Multifactor dimensionality
reduction analysis indicated the existence of epistatic interactions between EREG and NRG1 variants. EREG-AREG and NRG1, which are members of the epidermal growth factor
(EGF) family, seem to modulate BD susceptibility through main effects and geneâgene interactions. These association
findings support a role for the EGF/ErbB signaling pathway inBD pathogenesis that warrants further investigation and
highlight the importance of combining genetic and genomic approaches to dissect the genetic architecture of complex
diseases
IL10 Low-Frequency Variants in Behçet's Disease Patients
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
Romantic attachment, dyadic coping, and parental adjustment across the transition to parenthood
This study explored the mediating role of common dyadic coping (common DC) on the longitudinal associations between attachmentârelated anxiety and avoidance and parental adjustment to the first year postpartum. A total of 92 Portuguese couples completed selfâreport questionnaires of romantic attachment, common DC, parenting stress, and parental confidence. Results showed that more avoidant parents (at midâpregnancy) engaged less in common DC (at 6 weeks postpartum), which consequently increased their partner's parenting stress (only in mothers) and decreased their partner's parental confidence (in both parents) at 6â9 months postpartum. Anxious attachment did not predict parents' adjustment directly or indirectly. Interventions aimed at preventing adjustment difficulties to early parenthood in more avoidant parents should focus on enhancing their common DC strategies soon after childbirth
Romantic attachment, dyadic coping, and parental adjustment across the transition to parenthood
Intraâcouple similarity in dyadic coping and partnersâ adjustment to the birth of a child
Gene expression profiling and association studies implicate the neuregulin signaling pathway in Behçet's disease susceptibility
© Springer-Verlag Berlin Heidelberg 2013Behçet'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), and Neuregulin-1 (NRG1) genes of this pathway stand out as they are also among the top differentially expressed genes. Twelve haplotype tagging SNPs at the EREG-AREG locus and 15 SNPs in NRG1 found associated in at least one published BD genome-wide association study were tested for association with BD in a dataset of 976 Iranian patients and 839 controls. We found a novel association with BD for the rs6845297 SNP located downstream of EREG, and replicated three associations at NRG1 (rs4489285, rs383632, and rs1462891). Multifactor dimensionality reduction analysis indicated the existence of epistatic interactions between EREG and NRG1 variants. EREG-AREG and NRG1, which are members of the epidermal growth factor (EGF) family, seem to modulate BD susceptibility through main effects and gene-gene interactions. These association findings support a role for the EGF/ErbB signaling pathway in BD pathogenesis that warrants further investigation and highlight the importance of combining genetic and genomic approaches to dissect the genetic architecture of complex diseases.This research was supported by the Research Committee of the Tehran University of Medical Sciences (grant 132/714), the Portuguese Fundação para a CiĂȘncia e a Tecnologia (grant PTDC/SAU-GMG/098937/2008, doctoral fellowship SFRH/BD/43895/2008 to JMX, and a CiĂȘncia contract to SAO), and the Portuguese Instituto do Emprego e Formação Profissional (fellowship to JMX, TK, BVF).info:eu-repo/semantics/publishedVersio
Insamling av data i en uppkopplad miljö : En kvalitativ studie frÄn ett integritetsperspektiv
The phenomenon called âThe Internet of Thingsâ makes it possible for organizations in the public and private-sector to handle resources better, enhance their performances, and to establish new ways of developing business models. Connected devices can contribute valuable knowledge through real-time updates and help with monitoring and/or to analyze how people and resources behave through the value-chain. This paper aims to investigate how current Smart Environments in public settings are functioning with the data collection in mind, and the integrity behind it. We also shed some light on how prepared they are for the new GDPR Law. Our goal is to come up with knowledge about how organizations and companies are working with integrity and data gathering, when they are transforming their public environment into a Smart Public Environment
The International Criteria for Behçet's Disease (ICBD): a collaborative study of 27 countries on the sensitivity and specificity of the new criteria
Behçet's disease (BD) is a chronic, relapsing, inflammatory vascular disease with no pathognomonic test. Low sensitivity of the currently applied International Study Group (ISG) clinical diagnostic criteria led to their reassessment