Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank

Studies assessing the impact of amylase genes copy number (CN) on adiposity report conflicting findings in different global populations, likely reflecting the impact of ancestral and ethnic-specific environment and lifestyle on selection at the amylase loci. Here, we leverage population size and detailed adiposity measures from a large population biobank to resolve confounding effects and determine the relationship between salivary ( AMY1 ) and pancreatic ( AMY2A ) amylase genes CN and adiposity in 2935 Qatari individuals who underwent whole-genome sequencing (WGS) as part of the Qatar Genome Programme. We observe a negative association between AMY1 CNs and trunk fat percentage in the Qatari population ( P = 7.50 × 10 −3 ) and show that Qataris of Arab descent have significantly lower CN at AMY1 ( P = 1.32 × 10 −10 ) as well as less favorable adiposity and metabolic profiles ( P