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We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.
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http://dx.doi.org/10.1038/ng.2007.17 | DOI Listing |
Front Immunol
September 2025
Laboratory of Molecular Oncology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
Background: Sézary syndrome (SS) is an aggressive and leukemic variant of Cutaneous T-cell Lymphoma (CTCL) with an incidence of 1 case per million people per year. It is characterized by a complex and heterogeneous profile of genetic alteration ns that has so far precluded the development of a specific and definitive therapeutic intervention.
Methods: Deep-RNA-sequencing (RNA-seq) data were used to analyze the single nucleotide variants (SNVs) carried by 128 putative CTCL-driver genes, previously identified as mutated in genomic studies, in longitudinal SS samples collected from 17 patients subjected to extracorporeal photopheresis (ECP) with Interferon-α.
Methods
September 2025
Center of Bioinformatics, College of Life Sciences, Northwest A&F University, Yangling, Shaanxi 712100, China. Electronic address:
Parkinson's disease is a prevalent neurodegenerative disease, in which genetic mutations in many genes play an important role in its pathogenesis. Among these, a mutation in the PINK1 gene, a mitochondrial-targeted serine/threonine putative kinase 1 that protects cells from stress-induced mitochondrial dysfunction, is implicated in autosomal recessive Parkinsonism. However, the exact etiology is not well understood.
View Article and Find Full Text PDFBackground (Skuse, 1894) and (Linnaeus, 1762) (Diptera: Culicidae) are invasive species in the Hawaiian Islands as well as other islands of the Pacific and serve as the primary vectors of arboviruses like dengue virus. Despite its significance to public health, data on their insecticide resistance remains limited. Knowledge of the level of insecticide resistance is critical in developing effective mosquito control strategies, especially when an arboviral disease outbreak occurs.
View Article and Find Full Text PDFSci Rep
September 2025
Research Faculty of Agriculture, Hokkaido University, Sapporo, 060-8589, Japan.
Rice (Oryza sativa L.) originated in tropical regions but has successfully adapted to higher latitudes, largely through modifications in photoperiod sensitivity and cold tolerance mechanisms. Lipid metabolism, particularly involving membrane-associated enzymes, plays a key role in environmental sensing and response.
View Article and Find Full Text PDFPLoS One
September 2025
Department of Biotechnology and Genetic Engineering, Mawlana Bhashani Science and Technology University, Santosh, Tangail, Bangladesh.
Apolipoprotein E (ApoE) plays a critical role in Alzheimer's disease (AD) by regulating amyloid beta (Aβ) clearance through direct interaction. Non-synonymous single nucleotide polymorphisms (nsSNPs) in ApoE alter its structure and impair function, contributing to disease progression. This study aimed to identify functionally damaging nsSNPs in the ApoE gene using in silico tools and to assess their structural and binding effects on Aβ in the context of AD progression.
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