肥胖与 FTO：在一个复杂基因座上改变关注点。
Obesity and FTO: Changing Focus at a Complex Locus.
机构信息
Medical Research Council Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories, Level 4, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Medical Research Council Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories, Level 4, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
出版信息
Cell Metab. 2014 Nov 4;20(5):710-718. doi: 10.1016/j.cmet.2014.09.010. Epub 2014 Oct 23.
The fat mass and obesity-associated (FTO) gene was placed center stage when common intronic variants within the gene were robustly associated with human obesity. Murine models of perturbed Fto expression have shown effects on body weight and composition. However, a clear understanding of the link between FTO intronic variants and FTO activity has remained elusive. Two recent reports now indicate that obesity-associated SNPs appear functionally connected not with FTO but with two neighboring genes: IRX3 and RPGRIP1L. Here, we review these new findings and consider the implications for future analysis of GWAS hits.
当基因内常见的内含子变异与人类肥胖密切相关时，肥胖相关基因（FTO）成为了关注的焦点。干扰 Fto 表达的小鼠模型显示了对体重和组成的影响。然而，人们对 FTO 内含子变异与 FTO 活性之间的联系仍未完全了解。最近的两项研究报告表明，与肥胖相关的 SNP 似乎与 FTO 而不是两个邻近基因：IRX3 和 RPGRIP1L 功能相关。在这里，我们回顾这些新发现，并考虑对未来全基因组关联研究（GWAS）结果分析的影响。
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