A novel mutation in leptin gene is associated with severe obesity in Chinese individuals.
A novel mutation in leptin gene is associated with severe obesity in Chinese individuals.
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瘦素基因的新突变与中国人的严重肥胖有关
DOI：
10.1155/2014/912052
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发表时间：
2014
影响因子：
--
通讯作者：
Jia W
中科院分区：
文献类型：
--
作者：
Zhao Y;Hong N;Liu X;Wu B;Tang S;Yang J;Hu C;Jia W
肥胖是一种由多种遗传和环境因素相互作用驱动的临床综合征。单基因肥胖是一种罕见的肥胖类型，由单个基因突变引起。单基因肥胖患者可能出现早发性肥胖和严重的代谢异常。在这项研究中，我们筛选了135名中国个体的LEP突变，其中包括35名BMI≥32 kg/m2的肥胖患者和100名BMI <25 kg/m2的对照组。此外，还收集了参与者的详细信息和临床测量数据。最后，我们在一名BMI为46.0 kg/m2的患者的LEP外显子3中发现了一个新的非同义突变H118L。在对照组中没有发现这种突变。我们推测LEP中的突变H118L可能与中国受试者的严重肥胖有关。但其实质机制有待进一步研究。
Obesity is a clinical syndrome which is driven by interactions between multiple genetic and environmental factors. Monogenic obesity is a rare type of obesity which is caused by a mutation in a single gene. Patients with monogenic obesity may develop early onset of obesity and severe metabolic abnormalities. In this study, we screened mutations of LEP in a total of 135 Chinese individuals including 35 obese patients whose BMI ≥32 kg/m2 and 100 controls with BMI <25 kg/m2. Moreover, detailed information and clinical measurements of the participants were also collected. Finally, we identified a novel nonsynonymous mutation H118L in exon 3 of LEP in one patient with BMI 46.0 kg/m2. This mutation was not identified in the controls. We speculated that the mutation H118L in LEP might be associated with severe obesity in Chinese subjects. However, the substantial mechanism should be further investigated.