Mutch David M, Clément Karine
Inserm, U755 Nutriomique, 75004 Paris, France.
Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):647-64. doi: 10.1016/j.beem.2006.09.006.
This chapter presents the current state of knowledge in the field of the genetics of human obesity. The molecular approach has proved to be powerful in defining new syndromes associated with obesity. The pivotal role of leptin and melanocortin pathways has been recognized, but only in rare cases of obesity. In the more common form of obesity a multitude of polymorphisms located in genes and candidate regions throughout the genome regulate an individual's susceptibility to weight gain in a permissive environment. The effects are often uncertain and the results not always confirmed. Combining these single nucleotide polymorphisms and defining the associated risks for obesity will be a real challenge in the future. It is now necessary to integrate data of various origins (environment, genotype, expression) to clarify this field.
本章介绍了人类肥胖遗传学领域的当前知识状况。分子方法已被证明在定义与肥胖相关的新综合征方面具有强大作用。瘦素和黑皮质素途径的关键作用已得到认可,但仅在极少数肥胖病例中。在更常见的肥胖形式中,遍布整个基因组的基因和候选区域中的大量多态性在允许的环境中调节个体体重增加的易感性。其影响往往不确定,结果也并非总是得到证实。将这些单核苷酸多态性结合起来并确定肥胖的相关风险将是未来的一项真正挑战。现在有必要整合各种来源的数据(环境、基因型、表达)以阐明该领域。