Wangensteen Teresia, Undlien Dag, Tonstad Serena, Retterstøl Lars
Avdeling for medisinsk genetikk, Ullevål universitetssykehus, og Institutt for medisinsk genetikk, Universitetet i Oslo.
Tidsskr Nor Laegeforen. 2005 Nov 17;125(22):3090-3.
Overweight and obesity represent an increasing health problem. Both genetic and environmental factors contribute to the development of obesity. This article summarises the genetic aspects of these conditions.
A literature search was conducted using PubMed and OMIM. Both original and review articles were included.
The genetic influence on body weight is shown by twin and family studies. Environmental changes in recent decades have promoted the development of obesity in individuals at risk because of their genetic composition. Our understanding of the molecular pathways underlying common obesity is limited. During the last decade a handful of monogenic disorders leading to early, severe obesity in humans have been identified. All affect the central regulation of appetite. These conditions are rare, except for mutations in the melanocortin 4 receptor that account for about 5% of morbidly obese patients (BMI > 40 kg/m). The identification of monogenic forms of obesity has contributed valuable insight into the regulation of appetite and development of obesity, although causal treatment only exists for leptin deficiency. In addition, several well defined Mendelian syndromes are associated with overweight and obesity. The molecular genetic cause is known for some of these syndromes, but how appetite and energy balance are affected is still unclear.
超重和肥胖是日益严重的健康问题。遗传因素和环境因素均会导致肥胖。本文总结了这些情况的遗传方面。
使用PubMed和OMIM进行文献检索。纳入原创文章和综述文章。
双胞胎和家族研究表明了遗传因素对体重的影响。近几十年来的环境变化促使具有遗传易感性的个体发生肥胖。我们对普通肥胖潜在分子途径的了解有限。在过去十年中，已发现一些导致人类早期严重肥胖的单基因疾病。所有这些疾病均影响食欲的中枢调节。这些情况较为罕见，但黑皮质素4受体突变除外，该突变约占病态肥胖患者（体重指数>40kg/m²）的5%。单基因肥胖形式的鉴定为食欲调节和肥胖发展提供了有价值的见解，尽管仅对瘦素缺乏症存在因果治疗方法。此外，几种明确的孟德尔综合征与超重和肥胖有关。其中一些综合征的分子遗传原因已为人所知，但食欲和能量平衡如何受到影响仍不清楚。
