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Expression levels of and are associated with relapsing-remitting multiple sclerosis and rs12946510 variant.
Heliyon
February 2024
VINČA Institute of Nuclear Sciences - National Institute of the Republic of Serbia, Laboratory for Radiobiology and Molecular Genetics, University of Belgrade, Belgrade, Serbia.
Multiple sclerosis (MS), a noncurable autoimmune neurodegenerative disease, requires constant research that could improve understanding of both environmental and genetic factors that lead to its occurrence and/or progression. Recognition of the genetic basis of MS further leads to an investigation of the regulatory role of genetic variants on gene expression. Among risk variants for MS, Ikaros zinc finger 3 ( gene variant rs12946510 was identified as one of the top-ranked and the expression quantitative trait loci (eQTL) for genes residing in chromosomal locus 17q12-21.
View Article and Find Full Text PDFORMDL3/GSDMB genotype is associated with distinct phenotypes of adult asthma.
Allergol Int
October 2021
Department of Pulmonary Medicine, University of Tsukuba, Tsukuba, Japan.
Genetics and Epigenetics in Asthma.
Int J Mol Sci
February 2021
7th Respiratory Medicine Department and Asthma Center, Athens Chest Hospital "Sotiria", 11527 Athens, Greece.
Asthma is one of the most common respiratory disease that affects both children and adults worldwide, with diverse phenotypes and underlying pathogenetic mechanisms poorly understood. As technology in genome sequencing progressed, scientific efforts were made to explain and predict asthma's complexity and heterogeneity, and genome-wide association studies (GWAS) quickly became the preferred study method. Several gene markers and loci associated with asthma susceptibility, atopic and childhood-onset asthma were identified during the last few decades.
View Article and Find Full Text PDFORMDL3/GSDMB genotype as a risk factor for early-onset adult asthma is linked to total serum IgE levels but not to allergic sensitization.
Allergol Int
January 2021
Department of Pulmonary Medicine, University of Tsukuba, Tsukuba, Japan.
Background: An orosomucoid-like 3 (ORMDL3)/gasdermin B (GSDMB) gene locus on chromosome 17q is consistently associated with childhood-onset asthma, which is highly atopic. As some evidence suggests the relationship between asthma and allergic sensitization reflects asthma patient susceptibility to augmented IgE responses driven by common environmental allergens rather than an increased asthma risk after allergen exposure, we aimed to determine any relationships between this locus region and childhood-onset adult asthma with regard to serum total IgE levels or allergic sensitization.
Methods: We conducted a case-control association study using three independent Japanese populations (3869 total adults) and analyzed the ORs for association of rs7216389, an expression quantitative trait locus for ORMDL3/GSDMB, with adult asthma according to onset age.
Lymphocyte DNA methylation mediates genetic risk at shared immune-mediated disease loci.
J Allergy Clin Immunol
May 2020
Newcastle University Biosciences Institute, Newcastle upon Tyne, United Kingdom.
Background: Defining regulatory mechanisms through which noncoding risk variants influence the cell-mediated pathogenesis of immune-mediated disease (IMD) has emerged as a priority in the post-genome-wide association study era.
Objectives: With a focus on rheumatoid arthritis, we sought new insight into genetic mechanisms of adaptive immune dysregulation to help prioritize molecular pathways for targeting in this and related immune pathologies.
Methods: Whole-genome methylation and transcriptional data from isolated CD4 T cells and B cells of more than 100 genotyped and phenotyped patients with inflammatory arthritis, all of whom were naive to immunomodulatory treatments, were obtained.
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