Investigators at the University of Edinburgh have identified a genomic location linked to sensitivity to gabapentin in individuals with idiopathic chronic pelvic pain.
Japanese researchers have presented data from the biggest Asian genome-wide association study (GWAS) regarding susceptibility loci for systemic sclerosis (SSc), comprising a total of 1,428 cases and 112,599 controls and with an imputation reference panel containing more than 3,000 Japanese whole-genome sequencing data.
Researchers working at the Lady Davis Institute, Jewish General Hospital, McGill University, have combined whole-exome sequencing (WES) from nearly 300,000 samples from the multiancestry UK Biobank, with ultrasound-derived heel estimated bone mineral density (eBMD) and genome-wide association (GWAS) data to identify potential future therapeutic targets for patients with osteoporosis.
Coronary artery disease (CAD) will likely remain the worldwide leading cause of death for the next couple of decades. Genome-wide association studies (GWAS) have been useful to identify hundreds of genomic loci that contribute CAD risk.
There is little doubt that progress in many brain diseases is being hampered because many, maybe most, diagnostic categories do not reflect underlying brain processes. In other disease areas, modern genetic and genomic methods have arrived in the form of approved drugs, from KRAS inhibitors in cancer to PCSK9 inhibitors to lower cholesterol. But brain diseases are different. Psychiatry is simultaneously the most personal area of medicine, and the least precise.
Scientists from the Global Biobank Meta-Analysis Initiative (GBMI) , founded in 2019, have published initial results in the Oct. 12, 2022 issue of Cell Genomics. In a series of papers, the investigators showed that the data collected by multiple biobanks could be harmonized and jointly analyzed, despite initial differences in recruitment strategies, sample collection, and definitions of diseases. Joint analysis identified new risk loci for more than a dozen common diseases, while another paper showed that such joint analysis could also be used to identify such loci for the rare disease idiopathic pulmonary fibrosis (IPF).
A genome-wide association study has identified 290 genetic variants, including a wide range of DNA damage response genes, that are associated with age at menopause.
