ASSOCIATION ANALYSIS OF MITOCHONDRIAL HETEROPLASMIC VARIANTS AND CARDIOMETABOLIC TRAITS
By analyzing deep whole-genome sequencing data from 16,882 participants across six multi-ancestry cohorts, this study identified twelve significant associations between rare mitochondrial heteroplasmic variants and various cardiometabolic traits, including a strong link between CO1 gene variants and hyperlipidemia, thereby highlighting the role of mitochondrial heteroplasmy in cardiometabolic disease pathophysiology.