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

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Niccolo' Rossi, Elbay Aliyev, Alessia Visconti, Ammira S A Akil, Najeeb Syed, Waleed Aamer, Sujitha S Padmajeya, Mario Falchi, Khalid A Fakhro

Original languageEnglish
Article number8
Pages (from-to)8
JournalNPJ Genomic medicine
Issue number1
Published9 Feb 2021

Bibliographical note

Funding Information: We would like to thank the Qatar Biobank and the Qatar Genome Programme for providing access to the phenotyping and genomic datasets for this study. This study was funded in part by the Qatar National Research Fund’s (QNRF) and Qatar Genome Programme’s (QGP), Path towards Precision Medicine award (PPM1-1229-15002) and Sidra Medicine’s Precision Medicine Program (SDR100011). This research received no specific grant from any funding agency in the commercial sector. We thank John Armour for his advice and suggestions on the assessment of amylase genes copy number in WGS data. We are grateful to all the participants of this study. Publisher Copyright: © 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

King's Authors


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.

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