Tag : Variations

Tokyo: Researchers report the identification of numerous genes and specific genetic variations that are linked to atrial fibrillation in the largest genetic study of heart arrhythmia to date. Polygenic risk scores were generated using genetic data based on the analysis of data from over a million individuals. In at-risk patients, the scores predicted atrial fibrillation, as well as stroke and mortality. Researchers from RIKEN Center for Integrative Medical Sciences (IMS) in Japan, under the direction of Kazuo Miyazawa and Kaoru Ito and findings of the study, were published in the scientific journal Nature Genetics. Atrial fibrillation occurs when the heart beats rapidly and irregularly, causing blood to pool in the atria. This increases the risk of blood clots forming in the heart and then traveling to the brain where they can block blood flow and cause a stroke. In addition to other conditions like high blood pressure and diabetes, atrial fibrillation is associated with some genetic factors, but exactly how remains a mystery. The researchers examined the genomes of over 150,000 Japanese individuals and found 5 locations within our chromosomes--called genetic loci--that had never before been associated with atrial fibrillation. Among them, two include genetic variations unique to East Asian populations. A subsequent cross-ancestry meta-analysis of over 1.2 million people--the same Japanese population along with those from two large European studies--overall yielded 150 critical genetic loci, including 35 that were new. Further analysis found over 130 genes associated with these loci. The likelihood that variations in one or several of these genes leads to atrial fibrillation is therefore high. Genes are turned on and off as needed b ...