Bipolar disorder (BD) is a common and highly heritable mental illness and genome-wide association studies (GWAS) have robustly identified the first common genetic variants involved in disease aetiology. The data also provide strong evidence for the presence of multiple additional risk loci, each contributing a relatively small effect to BD susceptibility. Large samples are necessary to detect these risk loci. Here we present results from the largest BD GWAS to date by investigating 2.3 million single-nucleotide polymorphisms (SNPs) in a sample of 24,025 patients and controls. We detect 56 genome-wide significant SNPs in five chromosomal regions including previously reported risk loci ANK3, ODZ4 and TRANK1, as well as the risk locus ADCY2 (5p15.31) and a region between MIR2113 and POU3F2 (6q16.1). ADCY2 is a key enzyme in cAMP signalling and our finding provides new insights into the biological mechanisms involved in the development of BD.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1038/ncomms4339 | DOI Listing |
PLoS One
January 2025
National Clinical Research Center for Infectious Diseases, Shenzhen Clinical Research Center for Tuberculosis, Shenzhen Third People's Hospital, Shenzhen, Guangdong, China.
Background: The emergence of drug-resistant Tuberculosis (TB) has made treatment challenging. Although fluoroquinolones (FQs) are used as key drugs in the treatment of multidrug-resistant tuberculosis (MDR-TB), the problem of FQs resistance is becoming increasingly serious. Rifampicin (RIF) resistance is considered a risk factor for FQs resistance.
View Article and Find Full Text PDFJ Neurophysiol
January 2025
Department of Anesthesiology, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China.
Despite a significant genetic component to insomnia (heritability: 22-25%), the genetic loci that modulate insomnia risk remain limited. We employed the Unified Test for Molecular Markers (UTMOST) for transcriptome-wide association studies (TWAS) across various tissues, integrating summary statistics from a Genome-Wide Association Study (GWAS) of 462,341 European participants with gene expression data from the Genotype-Tissue Expression (GTEx) project. Three validation methods (FUSION, FOCUS, and MAGMA) were used to confirm important genes.
View Article and Find Full Text PDFJ Cancer
January 2025
Department of Otorhinolaryngology, Head and Neck Surgery, Changhua Christian Hospital, Changhua, Taiwan.
Oral squamous cell carcinoma (OSCC) affects a substantial proportion of the Asian population and is influenced by various genetic risk factors. The (), a regulator of the circadian rhythm, has been implicated in certain neoplasms. Accordingly, this study investigated the association between single-nucleotide polymorphisms and clinical manifestations of OSCC.
View Article and Find Full Text PDFBMC Rheumatol
January 2025
State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, and School of Life Science, Fudan University, Shanghai, 200120, China.
Objective: Elevated red blood cell distribution width (RDW) is associated with increased risk of rheumatoid arthritis (RA), but the potential interactions of RDW with genetic risk of incident RA remain unclear. This study aimed to investigate the associations between RDW, genetics, and the risk of developing RA.
Methods: We analysed data from 145,025 healthy participants at baseline in the UK Biobank.
Imeta
December 2024
State Key Laboratory of Cultivation Base of Research, Prevention and Treatment for Oral Diseases Nanjing Medical University Nanjing China.
This study investigated pathogenic genes associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) through transcriptome-wide association studies (TWAS). By integrating expression quantitative trait loci (eQTL) data with genome-wide association study (GWAS) data, we identified key susceptibility genes, including . Notably, the variant rs12884809 G>A was associated with an increased risk of NSCL/P by enhancing the binding of the transcription factor ELK1 to the promoter, thereby activating its expression.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!