Ankylosing spondylitis (AS) is an immune-mediated arthritis which primarily affects the spine and sacroiliac joints. Significant progress has been made in discovery of genetic associations with AS by genome-wide association studies (GWAS) over past decade. These findings have uncovered novel pathways involved pathogenesis of the disease and have led to introduction of novel therapeutic treatments for AS. In this Review, we discuss the genetic variations associated with AS identified by GWAS, the major pathways revealed by these AS-associated variations and critical cell types involved in AS development.
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http://dx.doi.org/10.1038/cti.2017.49 | DOI Listing |
Diabetes Care
February 2025
Division of Blood Disorders and Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA.
Objective: The goal of this study was to assess the additive value of considering type 2 diabetes (T2D) polygenic risk score (PRS) in addition to family history for T2D prediction.
Research Design And Methods: Data were obtained from the All of Us (AoU) research database. First-degree T2D family history was self-reported on the personal family history health questionnaire.
Cell Mol Neurobiol
January 2025
Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, China.
Immune and metabolic factors play an important role in the onset and development of insomnia. This study aimed to investigate the causal relationship between insomnia and immune cells and metabolites. Data for 731 immune cell phenotypes, 1400 metabolites, and insomnia in this study were obtained from the GWAS open-access database.
View Article and Find Full Text PDFHum Genet
January 2025
Department of Oto-Rhino-Laryngology, West China Hospital, Sichuan University, Chengdu, China.
The genetic relationship between migraine and stroke remains underexplored, particularly in the context of druggable targets. Previous studies have been limited by small sample sizes and a lack of focus on genetic-targeted therapies for these conditions. We analyzed the association and causality between migraine and stroke using multivariable logistic regression in the UK Biobank cohort and Mendelian randomization (MR) analyses based on genome-wide association study (GWAS) data.
View Article and Find Full Text PDFClin Transl Gastroenterol
January 2025
Key Laboratory of Hepatosplenic Surgery, Ministry of Education, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang province, China.
Background: Cholelithiasis is influenced by various factors, including genetic elements identified in genome-wide association studies (GWAS), but their biological functions are not fully understood.
Methods: Analyzing data from the Finngen database with 37,041 cholelithiasis cases and 330,903 controls, this study combined SNP data from GTEx v8 and linkage disequilibrium data from the 1000 Genomes Project. Using the TWAS FUSION protocol and SMR analysis, it investigated the relationship between gene expression and cholelithiasis, employing colocalization tests and conditional analyses to explore causality.
Front Plant Sci
January 2025
Department of Plant Pathology, Washington State University, Pullman, WA, United States.
Stripe rust of wheat is a serious disease caused by f. sp. ().
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