Bullous pemphigoid (BP) is a chronic autoimmune subepidermal blistering disease, affecting mostly the elderly. Metabolic syndrome (MetS) is a set of metabolic disorders including obesity, hypertension, glucose intolerance, and dyslipidemia. Observational studies have revealed a correlation between BP and MetS with controversial results and the causal relationship needs to be clarified. In the study of BP and MetS, observational investigations are prone to be biased by confounding factors such as the use of corticosteroids or age. However, Mendelian randomization (MR) is less susceptible to confounding factors and reverse causality. In this study, we aimed to use two-sample MR to investigate the causal correlation between BP and MetS from a genetic perspective. We used genome-wide association study (GWAS) data of BP, MetS, and its relevant traits to perform the analysis. The relevant traits consisted of four aspects, including central obesity, hypertension, impaired glucose tolerance, and dyslipidemia. In the results, it demonstrated no causal association of BP on the risk of MetS or its relevant traits and it revealed no significant linkage in the reverse procedure. This analysis enriched the research on the association of BP and MetS and provided evidence from a genetic perspective.
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http://dx.doi.org/10.1007/s00403-024-03704-8 | DOI Listing |
Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing methods, which capture fewer than half of the SVs present in any one individual. Long-read sequencing (LRS) enhances our ability to detect disease-associated and functionally relevant structural variants (SVs); however, its application in large-scale genomic studies has been limited by challenges in sample preparation and high costs.
View Article and Find Full Text PDFMulticellular organisms host a rich assemblage of associated microorganisms, collectively known as their "microbiomes". Microbiomes have the capacity to influence their hosts' fitnesses, but the conditions under which such influences contribute to evolution are not clear. This is due in part to a lack of a comprehensive theoretical framework for describing the combined effects of host and associated microbes on phenotypic variation.
View Article and Find Full Text PDFMol Breed
January 2025
Maize Research Institute, Guangxi Academy of Agricultural Sciences, Nanning, 530007 Guangxi China.
Unlabelled: Increasing planting density is one of the most important strategies for generating higher maize yields. Moderate leaf rolling decreases mutual shading of leaves and increases the photosynthesis of the population and hence increases the tolerance for high-density planting. Few genes that control leaf rolling in maize have been identified, however, and their applicability for breeding programs remains unclear.
View Article and Find Full Text PDFPolyunsaturated fatty acids (PUFAs) including omega-3 and omega-6 are obtained from diet and can be measured objectively in plasma or red blood cells (RBCs) membrane biomarkers, representing different dietary exposure windows. conversion of omega-3 and omega-6 PUFAs from short-to long-chain counterparts occurs via a shared metabolic pathway involving fatty acid desaturases and elongase. This analysis leveraged genome-wide association study (GWAS) summary statistics for RBC and plasma PUFAs, along with expression quantitative trait loci (eQTL) to estimate tissue-specific genetically predicted gene expression effects for delta-5 desaturase ( ), delta-6 desaturase ( ), and elongase ( ) on changes in RBC and plasma biomarkers.
View Article and Find Full Text PDFBr J Psychiatry
January 2025
Douglas Mental Health University Institute, Department of Psychiatry, McGill University, Montreal, Canada.
Background: Working memory deficit, a key feature of schizophrenia, is a heritable trait shared with unaffected siblings. It can be attributed to dysregulation in transitions from one brain state to another.
Aims: Using network control theory, we evaluate if defective brain state transitions underlie working memory deficits in schizophrenia.
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