生物谷報道：英國維康信托基金會桑格研究所等機構(gòu)的科學(xué)家通過一項9萬人參與的實驗確定一種與肥胖相關(guān)的基因,，這個基因變異會導(dǎo)致肥胖的發(fā)生。
研究論文發(fā)表在最新一期的《自然·遺傳學(xué)》上面,，這種新確定的基因位于人類基因組中的“垃圾ＤＮＡ”（生物谷注：內(nèi)含子）區(qū)域,，非常接近另外一種肥胖基因ＭＣ４Ｒ，其變種會阻止ＭＣ４Ｒ基因正常表達(dá),。研究人員對９萬人的基因進行研究后發(fā)現(xiàn),，擁有這種新基因兩種變異版本的人更容易長胖。
研究人員說,，這一發(fā)現(xiàn)說明,，占據(jù)人類基因組絕大部分區(qū)域的“垃圾ＤＮＡ”極其重要。“垃圾ＤＮＡ”是指人體內(nèi)的非編碼ＤＮＡ,，它們不像編碼基因那樣控制產(chǎn)生特定的蛋白質(zhì),。
研究人員認(rèn)為，“垃圾ＤＮＡ”包含可改變基因活動并影響蛋白質(zhì)制造的遺傳開關(guān),，而此次新發(fā)現(xiàn)的基因本身可能就是一種遺傳開關(guān),。（生物谷：www.bioon.com）
生物谷推薦原始出處：
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.
