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

• Published in: Npj genomic medicine Vol. 6; no. 1; pp. 8 - 9
• Main Authors: Rossi, Niccolo’, Aliyev, Elbay, Visconti, Alessia, Akil, Ammira S. A., Syed, Najeeb, Aamer, Waleed, Padmajeya, Sujitha S., Falchi, Mario, Fakhro, Khalid A.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 09.02.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208/205; 631/208/2489; Adipose tissue; Biobanks; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Copy number; Gene Function; Gene Therapy; Genes; Genomes; Human Genetics; Internal Medicine; Population; Population studies; Whole genome sequencing
• ISSN: 2056-7944; 2056-7944
• DOI: 10.1038/s41525-021-00170-3

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  < 1.34 × 10 −8 ) than Qataris with Persian ancestry. Indeed, lower AMY1 CN was associated with increased total and trunk fat percentages in Arabs ( P  < 4.60 × 10 −3 ) but not in Persians. Notably, overweight and obese Persians reported a significant trend towards dietary restraint following weight gain compared to Arabs ( P  = 4.29 × 10 −5 ), with AMY1 CN showing negative association with dietary self-restraint ( P  = 3.22 × 10 −3 ). This study reports an association between amylase gene CN and adiposity traits in a large Middle Eastern population. Importantly, we leverage rich biobank data to demonstrate that the strength of this association varies with ethnicity, and may be influenced by population-specific behaviors that also contribute to adiposity traits.