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英国维康信托基金会桑格研究所等机构的科学家通过一项9万人参与的实验确定一种与肥胖相关的基因，这个基因变异会导致肥胖的发生。
研究论文发表在最新一期的《自然·遗传学》上面，这种新确定的基因位于人类基因组中的“垃圾ＤＮＡ”区域，非常接近另外一种肥胖基因ＭＣ４Ｒ，其变种会阻止ＭＣ４Ｒ基因正常表达。研究人员对９万人的基因进行研究后发现，拥有这种新基因两种变异版本的人更容易长胖。
研究人员说，这一发现说明，占据人类基因组绝大部分区域的“垃圾ＤＮＡ”极其重要。“垃圾ＤＮＡ”是指人体内的非编码ＤＮＡ，它们不像编码基因那样控制产生特定的蛋白质。
研究人员认为，“垃圾ＤＮＡ”包含可改变基因活动并影响蛋白质制造的遗传开关，而此次新发现的基因本身可能就是一种遗传开关。
原始出处：
Nature Genetics (04 May 2008), doi: 10.1038/ng.140, Letters
Common variants near MC4R are associated with fat mass, weight and risk of obesity
Ruth J F Loos1,2,73, Cecilia M Lindgren3,4,73, Shengxu Li1,2,73, Eleanor Wheeler5, Jing Hua Zhao1,2, Inga Prokopenko3,4, Michael Inouye5, Rachel M Freathy6,7, Antony P Attwood5,8, Jacques S Beckmann9,10, Sonja I Berndt11, The Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial71, Sven Bergmann9,12, Amanda J Bennett3,4, Sheila A Bingham13, Murielle Bochud14, Morris Brown15, Stéphane Cauchi16, John M Connell17, Cyrus Cooper18, George Davey Smith19, Ian Day18, Christian Dina16, Subhajyoti De20, Emmanouil T Dermitzakis5, Alex S F Doney21, Katherine S Elliott3, Paul Elliott22,23, David M Evans3,19, I Sadaf Farooqi2,24, Philippe Froguel16,25, Jilur Ghori5, Christopher J Groves3,4, Rhian Gwilliam5, David Hadley26, Alistair S Hall27, Andrew T Hattersley6,7, Johannes Hebebrand28, Iris M Heid29,30, KORA71, Blanca Herrera3,4, Anke Hinney28, Sarah E Hunt5, Marjo-Riitta Jarvelin22,23,31, Toby Johnson9,12,14, Jennifer D M Jolley8, Fredrik Karpe4, Andrew Keniry5, Kay-Tee Khaw32, Robert N Luben32, Massimo Mangino33, Jonathan Marchini34, Wendy L McArdle35, Ralph McGinnis5, David Meyre16, Patricia B Munroe36, Andrew D Morris21, Andrew R Ness37, Matthew J Neville4, Alexandra C Nica5, Ken K Ong1,2, Stephen O'Rahilly2,24, Katharine R Owen4, Colin N A Palmer38, Konstantinos Papadakis26, Simon Potter5, Anneli Pouta31,39, Lu Qi40, Nurses' Health Study71, Joshua C Randall3,4, Nigel W Rayner3,4, Susan M Ring35, Manjinder S Sandhu1,32, André Scherag41, Matthew A Sims1,2, Kijoung Song42, Nicole Soranzo5, Elizabeth K Speliotes43,44, Diabetes Genetics Initiative71, Holly E Syddall18, Sarah A Teichmann20, Nicholas J Timpson3,19, Jonathan H Tobias45, Manuela Uda46, The SardiNIA Study71, Carla I Ganz Vogel28, Chris Wallace36, Dawn M Waterworth42, Michael N Weedon6,7, The Wellcome Trust Case Control Consortium72, Cristen J Willer47, FUSION71, Vicki L Wraight2,24, Xin Yuan42, Eleftheria Zeggini3, Joel N Hirschhorn44,48,49,50,51, David P Strachan26, Willem H Ouwehand8, Mark J Caulfield36, Nilesh J Samani33, Timothy M Frayling6,7, Peter Vollenweider52, Gerard Waeber52, Vincent Mooser42, Panos Deloukas5, Mark I McCarthy3,4,73, Nicholas J Wareham1,2,73 & Inês Barroso5,73
To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9  10- 6) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 10- 15) and 5,988 children aged 7–11 (0.13 Z-score units; P = 1.5 10- 8). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 10- 11). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) = 2.4 10- 4). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits.
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