Understanding the genetic relationships between human disorders could lead to better treatment and prevention strategies, especially for individuals with multiple comorbidities. A common resource for studying genetic-disease relationships is the GWAS Catalog, a large and well curated repository of SNP-trait associations from various studies and populations. Some of these populations are contained within mega-biobanks such as the Million Veteran Program (MVP), which has enabled the genetic classification of several diseases in a large well-characterized and heterogeneous population. Here we aim to provide a network of the genetic relationships among diseases and to demonstrate the utility of quantifying the extent to which a given resource such as MVP has contributed to the discovery of such relations. We use a network-based approach to evaluate shared variants among thousands of traits in the GWAS Catalog repository. Our results indicate many more novel disease relationships that did not exist in early studies and demonstrate that the network can reveal clusters of diseases mechanistically related. Finally, we show novel disease connections that emerge when MVP data is included, highlighting methodology that can be used to indicate the contributions of a given biobank.
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http://dx.doi.org/10.1038/s41598-022-19244-y | DOI Listing |
Arch Dermatol Res
January 2025
Coloproctology Department, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Background: Data from observational and clinical studies indicate an association between skin microbiota and hidradenitis suppurativa (HS). However, the causal relationship between skin microbiota and HS remains to be elucidated.
Methods: We obtained data on skin microbiota and HS from summary statistics of genome-wide association studies and applied Mendelian randomization (MR) statistical methods to assess causality.
Mol Biol Rep
January 2025
Division of Animal Biotechnology, Faculty of Veterinary Sciences & Animal Husbandry, SKUAST-K, Srinagar, India.
Background: The identification of helminth parasites in Schizothorax spp. from Kashmir, including Schyzocotyle acheilognathi, Pomphorhynchus kashmirensis, and Adenoscolex oreini, is hindered by morphological limitations and high intraspecific variation. While previous studies have relied on morphological diagnosis, a comprehensive molecular characterization is lacking.
View Article and Find Full Text PDFDiscov Oncol
January 2025
Department of Medical Imaging, Shenzhen Longhua District Key Laboratory of Neuroimaging, Shenzhen Longhua District Central Hospital, Shenzhen, 518110, China.
Background: Glioblastoma multiforme (GBM) is a highly aggressive brain cancer with poor prognosis and limited treatment options. Despite advances in understanding its molecular mechanisms, effective therapeutic strategies remain elusive due to the tumor's genetic complexity and heterogeneity.
Methods: This study employed a comprehensive analysis approach integrating 113 machine learning algorithms with Mendelian Randomization (MR) analysis to investigate the molecular underpinnings of GBM.
Plant Foods Hum Nutr
January 2025
Centro de Desarrollo de Productos Bióticos, Instituto Politécnico Nacional, Col. San Isidro, Km 8.5 Carr. Yautepec-Jojutla, Yautepec, Morelos, C.P. 62731, México.
The relationship between the gut microbiota (GM) and the health of human beings has been a topic of growing interest in the last few years. Legumes are a rich source of indigestible carbohydrates, including resistant starch (RS), which are substrates of the GM. The aim of this study was to evaluate the effect of the indigestible fraction of legumes on the fecal microbiota of normal-weight (NW) and obese (O) donors.
View Article and Find Full Text PDFCurr Opin Psychiatry
December 2024
Departments of Psychiatry &, Behavioral Sciences and Pediatrics, University of Kansas Medical Centre, Kansas City, Kansas, United States.
Purpose Of Review: Prader-Willi (PWS) and Angelman (AS) syndromes arise from errors in 15q11-q13 imprinting. This review describes recent advances in genomics and how these expand our understanding of these rare disorders, guiding treatment strategies to improve patient outcomes.
Recent Findings: PWS features include severe infantile hypotonia, failure to thrive, hypogonadism, developmental delay, behavioral and psychiatric features, hyperphagia, and morbid obesity, if unmanaged.
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