The National Human Genome Research Institute (NHGRI) Catalog of Published Genome-Wide Association Studies (GWAS) Catalog provides a publicly available manually curated collection of published GWAS assaying at least 100,000 single-nucleotide polymorphisms (SNPs) and all SNP-trait associations with P <1 × 10(-5). The Catalog includes 1751 curated publications of 11 912 SNPs. In addition to the SNP-trait association data, the Catalog also publishes a quarterly diagram of all SNP-trait associations mapped to the SNPs' chromosomal locations. The Catalog can be accessed via a tabular web interface, via a dynamic visualization on the human karyotype, as a downloadable tab-delimited file and as an OWL knowledge base. This article presents a number of recent improvements to the Catalog, including novel ways for users to interact with the Catalog and changes to the curation infrastructure.
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http://dx.doi.org/10.1093/nar/gkt1229 | DOI Listing |
Schizophrenia (Heidelb)
January 2025
Suzhou Guangji Hospital, Suzhou, Jiangsu Province; Affiliated Guangji Hospital of Soochow University, Suzhou, Jiangsu Province, China.
Numerous observational studies have highlighted associations between mitochondrial dysfunction and schizophrenia (SCZ), yet the causal relationship remains elusive. This study aims to elucidate the causal link between mitochondria-associated proteins and SCZ. We used summary data from a genome-wide association study (GWAS) of 66 mitochondria-associated proteins in 3,301 individuals from Europe, as well as a GWAS on the large, multi-ethnic ancestry of SCZ, involving 76,755 cases and 243,649 controls.
View Article and Find Full Text PDFMicroorganisms
January 2025
Department of Radiation Oncology, The First Clinical Medical College, Nanjing Medical University, Nanjing 210029, China.
Radiation-induced skin toxicity, resulting from ionizing or nonionizing radiation, is a common skin disorder. However, the underlying relationship between skin microbiota and radiation-induced skin toxicity remains largely unexplored. Herein, we uncover the microbiota-skin interaction based on a genome-wide association study (GWAS) featuring 150 skin microbiota and three types of skin microenvironment.
View Article and Find Full Text PDFBMC Genomics
January 2025
International Institute of Molecular and Cell Biology in Warsaw, Laboratory of Zebrafish Developmental Genomics, Księcia Trojdena 4, Warsaw, 02-109, Poland.
Congenital heart disease (CHD) is a prevalent condition characterized by defective heart development, causing premature death and stillbirths among infants. Genome-wide association studies (GWASs) have provided insights into the role of genetic variants in CHD pathogenesis through the identification of a comprehensive set of single-nucleotide polymorphisms (SNPs). Notably, 90-95% of these variants reside in the noncoding genome, complicating the understanding of their underlying mechanisms.
View Article and Find Full Text PDFFront Mol Biosci
January 2025
Department of Clinical Laboratory, The First People's Hospital of Lianyungang, The Affiliated Lianyungang Hospital of Xuzhou Medical University, The First Affiliated Hospital of Kangda College of Nanjing Medical University, Lianyungang, Jiangsu, China.
Background: Prostate cancer (PCa), the most prevalent malignant neoplasm in males, involves complex biological mechanisms and risk factors, many of which remain unidentified. By employing a novel two-sample Mendelian randomization (MR) approach, this study aims to elucidate the causal relationships between the circulating metabolome and PCa risk, utilizing comprehensive data on genetically determined plasma metabolites and metabolite ratios.
Methods: For the MR analysis, we utilized data from the GWAS Catalog database to analyze 1,091 plasma metabolites and 309 ratios in relation to PCa outcomes within two independent GWAS datasets.
Eur J Neurosci
January 2025
Health Examination Center, Affiliated Chuzhou Hospital of Anhui Medical University, First People's Hospital of Chuzhou, Chuzhou, China.
Parkinson's disease (PD) is a neurodegenerative disease involving multiple factors. We explored the connection between intestinal microbiome levels and PD by examining inflammatory cytokines, peripheral immune cell counts and plasma metabolomics as potential factors. By obtaining the Genome-Wide Association Study (GWAS) data needed for this study from GWAS Catalog, including summary data for 473 intestinal microbiota traits (N = 5959), 91 inflammatory cytokine traits (N = 14,824), 118 peripheral immune cell count traits (N = 3757), 1400 plasma metabolite traits (N = 8299) and PD traits (N = 482,730).
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