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代谢综合征与遗传
引用本文:罗樱樱,纪立农. 代谢综合征与遗传[J]. 医学与哲学(人文社会医学版), 2009, 30(1): 18-20
作者姓名:罗樱樱  纪立农
作者单位:北京大学人民医院内分泌科,北京100044
摘    要:代谢综合征是指一组与糖尿病和心血管疾病发病风险增加相关联的症候群。不同学术组织对于代谢综合征的定义有所不同,但其基本要素主要包括胰岛素抵抗、异常葡萄糖代谢、高血压、致动脉粥样硬化的脂代谢紊乱、肥胖等。家系研究以及双生子研究显示遗传因素在代谢综合征中各个组分中都扮演着不同程度的重要角色。在代谢综合征患者中有一部分是由于单基因突变所导致的特殊类型的代谢综合征,这些患者的共同特点包括脂质萎缩以及严重的胰岛素抵抗等。导致这些特殊类型代谢综合征发生的单基因突变包括AKT2R274H,PPARs家族的PPARγF388L基因突变、PPARγArg397Cys基因突变、PPARγP467L与PPARγV290M基因突变,核纤层蛋白A/C基因的lamin A G602S突变、LMNA R482W突变等。此外,由于对代谢综合征的定义和理解不同,在代谢综合征的遗传学研究中造成了很大困难。

关 键 词:代谢综合征  遗传因素  要素

The Role of Genetics in Metabolic Syndrome
LUO Ying-ying,JI Li-nong. The Role of Genetics in Metabolic Syndrome[J]. Medicine & Philosophy:Humanistic & Social Medicine Edition, 2009, 30(1): 18-20
Authors:LUO Ying-ying  JI Li-nong
Affiliation:.( Peking University People Hospital, Peking 100044, China)
Abstract:Metabolic syndrome is a cluster of metabolic disorder associated with elevated risk of type 2 diabetes and cardiovascular disease. Different organization defined metabolic syndrome differently. However, the essential components include insulin resistance, glucose intolerance, hypertension, atherosclerotic dyslipidemia and obese. From the family study and twin studies, there are evidences that common features of metabolic syndrome are all heritability affected. Some patients with metabolic syndrome are in monogenic form. The common features are lipodystrophy and severe insulin resistance. These monogenic mutations includes AKT2R274H, PPARγF388L, PPARγArg397Cys, PPARγP467L, PPARTγ290M, lamin A G602S, LMNA R482W and so on. The monogenic form of metabolism has prove the concept that metabolic syndrome could be the consequence of one single mutation. However, the lack of consensus of metabolic syndrome make genetic study of it more difficult.
Keywords:metabolic syndrome   genetic factor   component
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