Nature Genetics：发现3个与儿童肥胖症相关的基因变异

一个国际科研小组在最新一期英国《自然·遗传学》杂志上报告说，他们新发现3个与儿童肥胖症相关的基因变异，这将有助于医学研究人员预测乃至治疗儿童肥胖症。
来自法国国家科研中心、英国伦敦帝国理工学院等机构的研究人员介绍说，他们在这项长达10年的研究中，对上千名6岁以下肥胖儿童及一些成年肥胖症患者进行了全基因组关联分析，这些成年研究对象都是从儿童期或青春期就开始出现肥胖症状的。
研究人员将他们的基因信息与同年龄段正常体重者的基因信息对比，结果识别出3个以前从未发现的基因变异，而50％的儿童肥胖症患者都与这3个基因变异有关。
在这3个基因变异中，与儿童肥胖症以及成年肥胖症关联最密切的一个，位于PTER基因附近，研究人员目前尚不清楚该基因的功能。他们估计，儿童肥胖症中有三分之一都可归结到这个基因变异上，成年肥胖症中也有大约五分之一与它有关。
第二个基因变异位于NPC1基因中。此前以老鼠为对象的研究已经表明，这个基因与食欲有关。研究人员估计，儿童肥胖症中有十分之一与这一基因变异相关。
第三个基因变异位于MAF基因附近。该基因负责控制胰岛素、胰高血糖素及胰高血糖素样肽的产生，这些激素和肽在人体葡萄糖和碳水化合物的代谢中都扮演关键角色。儿童肥胖症中大约有6％的病例与这个基因变异有关。
研究小组在报告中说，下一步，他们将进行更深入的研究，以确认这3个基因是否独立发挥作用。他们表示，新发现及以往在该领域的研究成果，将有助于医学界开发出基因工具，预测哪些儿童是“高危”肥胖儿，并提前予以干预，避免儿童出现肥胖症状。(生物谷Bioon.com）
生物谷推荐原始出处：
Nature Genetics Published online: 18 January 2009 doi:10.1038/ng.301
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
David Meyre1, Jér?me Delplanque1, Jean-Claude Chèvre1, Cécile Lecoeur1, Stéphane Lobbens1, Sophie Gallina1, Emmanuelle Durand1, Vincent Vatin1, Franck Degraeve1, Christine Proen?a1, Stefan Gaget1, Antje K?rner2, Peter Kovacs3, Wieland Kiess2, Jean Tichet4, Michel Marre5, Anna-Liisa Hartikainen6, Fritz Horber7, Natascha Potoczna7, Serge Hercberg8, Claire Levy-Marchal9, Fran?ois Pattou10, Barbara Heude11, Maithé Tauber12, Mark I McCarthy13,14,15, Alexandra I F Blakemore16, Alexandre Montpetit17, Constantin Polychronakos17, Jacques Weill18, Lachlan J M Coin19, Julian Asher16, Paul Elliott19, Marjo-Riitta J?rvelin19,20, Sophie Visvikis-Siest21, Beverley Balkau11, Rob Sladek17, David Balding19, Andrew Walley16, Christian Dina1 & Philippe Froguel1,16
We analyzed genome-wide association data from 1,380 Europeans with early-onset and morbid adult obesity and 1,416 age-matched normal-weight controls. Thirty-eight markers showing strong association were further evaluated in 14,186 European subjects. In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene, P = 2.9 10-7), near MAF (encoding the transcription factor c-MAF, P = 3.8 10-13) and near PTER (phosphotriesterase-related gene, P = 2.1 10-7).
1 CNRS 8090-Institute of Biology, Pasteur Institute, 59000 Lille, France.2 University Hospital for Children & Adolescents, University of Leipzig, 04103 Leipzig, Germany.3 Interdisciplinary Centre for Clinical Research, University of Leipzig, 04103 Leipzig, Germany.4 Institut Inter Régional pour la Santé, 37521 La Riche, France.5 Department of Endocrinology, Diabetology, Nutrition, Bichat-Claude Bernard University Hospital, Assistance Publique des H?pitaux de Paris, 75018 Paris, France, and Institut National de la Santé et de la Recherche Médicale U695, 6 Université Paris 7, 75007 Paris, France.7 Department of Clinical Sciences/ Obstetrics and Gynecology, University of Oulu, University of Oulu, 90014 Oulu, Finland.8 Klinik Lindberg, 8400 Winterthur, and University of Berne, 3012 Berne, Switzerland.9 Unité Mixte de Recherche U557 Institut National de la Santé et de la Recherche Médicale, U1125 Institut National de la 10 Recherche Agronomique, Conservatoire National des arts et Métiers, Université Paris 13, Centre de Recherches en 11 Nutrition Humaine Ile de France, F-93017 Bobigny, France.12 Institut National de la Santé et de la Recherche Médicale, U690, Paris, FR-75019, France and Université Paris Diderot, Paris, FR-75205 cedex 13, France.13 Institut National de la Santé et de la Recherche Médicale U859, Centre Hospitalier Régional Universitaire de Lille, 14 Lille North of France University, 59000 Lille France.15 Institut National de la Santé et de la Recherche Médicale U780, Villejuif, F-94807; University Paris-Sud, Orsay, F-91405, France.16 Institut National de la Santé et de la Recherche Médicale U563, Children's Hospital, Centre Hospitalier Universitaire 31000 Toulouse, France.17 Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, OX3 7LJ Oxford, UK.18 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 Oxford, UK.19 Oxford National Institute for Health Research Biomedical Research Centre, OX3 Oxford, UK.20 Section of Genomic Medicine, Hammersmith Hospital, Imperial College London, W12 0HS London, UK.21 McGill University and Genome Quebec Innovation Centre, H3A 1A Montreal, Canada.22 Pediatric Endocrine Unit, Jeanne de Flandre Hospital, 59000 Lille, France.23 Department of Epidemiology and Public Health, Imperial College London, WC1E 6BT London UK.24 Institute of Health Sciences, University of Oulu, Department of Child and Adolescent Health, National Public Health 25 Institute, Biocenter Oulu, University of Oulu, 90014 Oulu, Finland.26 Institut National de la Santé et de la Recherche Médicale "Cardiovascular Genetics" team, Centre D'investigation Clinique 54000 Nancy, France.