作者
Mario Falchi, Julia Sarah El-Sayed Moustafa, Petros Takousis, Francesco Pesce, Amélie Bonnefond, Johanna C Andersson-Assarsson, Peter H Sudmant, Rajkumar Dorajoo, Mashael Nedham Al-Shafai, Leonardo Bottolo, Erdal Ozdemir, Hon-Cheong So, Robert W Davies, Alexandre Patrice, Robert Dent, Massimo Mangino, Pirro G Hysi, Aurélie Dechaume, Marlène Huyvaert, Jane Skinner, Marie Pigeyre, Robert Caiazzo, Violeta Raverdy, Emmanuel Vaillant, Sarah Field, Beverley Balkau, Michel Marre, Sophie Visvikis-Siest, Jacques Weill, Odile Poulain-Godefroy, Peter Jacobson, Lars Sjostrom, Christopher J Hammond, Panos Deloukas, Pak Chung Sham, Ruth McPherson, Jeannette Lee, E Shyong Tai, Robert Sladek, Lena MS Carlsson, Andrew Walley, Evan E Eichler, Francois Pattou, Timothy D Spector, Philippe Froguel
发表日期
2014/5
期刊
Nature genetics
卷号
46
期号
5
页码范围
492-497
出版商
Nature Publishing Group US
简介
Common multi-allelic copy number variants (CNVs) appear enriched for phenotypic associations compared to their biallelic counterparts,,,. Here we investigated the influence of gene dosage effects on adiposity through a CNV association study of gene expression levels in adipose tissue. We identified significant association of a multi-allelic CNV encompassing the salivary amylase gene (AMY1) with body mass index (BMI) and obesity, and we replicated this finding in 6,200 subjects. Increased AMY1 copy number was positively associated with both amylase gene expression (P = 2.31 × 10−14) and serum enzyme levels (P < 2.20 × 10−16), whereas reduced AMY1 copy number was associated with increased BMI (change in BMI per estimated copy = −0.15 (0.02) kg/m2; P = 6.93 × 10−10) and obesity risk (odds ratio (OR) per estimated copy = 1.19, 95% confidence interval (CI) = 1.13–1.26; P = 1.46 × 10−10). The …
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M Falchi, JS El-Sayed Moustafa, P Takousis, F Pesce… - Nature genetics, 2014