Sandholt Camilla H, Grarup Niels, Pedersen Oluf, Hansen Torben
The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Mol Cell Endocrinol. 2015 Dec 15;418 Pt 2:90-100. doi: 10.1016/j.mce.2015.09.029. Epub 2015 Sep 30.
The decade anniversary for genome-wide association studies (GWAS) is approaching, and this experimental approach has commenced a deeper understanding of the genetics underlying complex diseases. In obesity genetics the GIANT (Genetic Investigation of ANthropometric Traits) consortium has played a crucial role, recently with two comprehensive meta-analyses, one focusing on general obesity, analyzing body-mass index (BMI) and the other on fat distribution, focusing on waist-hip ratio adjusted for BMI. With the in silico methods applied in these two studies as the pivot, this review looks into some of the biological knowledge, beginning to emerge from the intricate genomic background behind the genetic determinants of human adiposity. These include synaptic dysfunction, where GWAS pinpoint potential new mechanisms in pathways already known to be linked with obesity.
全基因组关联研究（GWAS）的十周年纪念日即将到来，这种实验方法已开始更深入地理解复杂疾病背后的遗传学。在肥胖遗传学领域，GIANT（人体测量性状遗传研究）联盟发挥了关键作用，最近进行了两项全面的荟萃分析，一项聚焦于一般肥胖，分析体重指数（BMI），另一项聚焦于脂肪分布，分析经BMI调整后的腰臀比。以这两项研究中应用的计算机模拟方法为核心，本综述探讨了一些生物学知识，这些知识开始从人类肥胖遗传决定因素背后错综复杂的基因组背景中浮现出来。其中包括突触功能障碍，GWAS在已知与肥胖相关的通路中确定了潜在的新机制。
