代谢综合征相关基因多态性研究进展

Polymorphisms of Metabolic Syndrome Related Genes

代谢综合征(metabolic syndrome,MS)是一组复杂的代谢紊乱疾病,近年其逐渐成为对居民健康影响较大的公共卫生问题。MS的发生是由遗传和环境因素共同作用导致的,其遗传异质性和表型异质性强,许多基因及其多态性都与MS或其组分的发生有关。有关MS及其组分相关基因多态性的研究主要集中在脂联素编码基因(ADIPOQ)、过氧化物酶体增殖物激活受体γ基因(PPARγ)、转录因子7类似物2基因(TCF7L2)、脂肪含量和肥胖相关基因(fat mass and obesity-associated gene,FTO)和载脂蛋白基因等。而目前针对女性的遗传研究尚未引起广泛关注,尚需进一步研究以寻找其致病的特异性基因,为改善女性健康提供帮助。综述近年MS相关的基因多态性的研究热点。

Metabolic syndrome（MS）,a collection of complex metabolic disorders,is becoming a public health problem in recent years. The pathogenesis basis of MS is the combined effect of genetic factors and environmental factors,which results in big genetic heterogeneity and big phenotypic heterogeneity. Many genes and/or their polymorphisms were found to be associated with the pathogenesis of MS or some of clinical features.Those studies on the gene polymorphisms of MS focused on adiponectin gene（ADIPOQ）,peroxisome proliferatoractivated receptor γ gene（PPAR γ）,transcription factor 7-like 2 gene（TCF7L2）,fat mass and obesity associated gene（FTO）,apolipoprotein gene and so on. There were few studies on the genetics of female MS patients,it is necessary to find further more specific genes related to MS pathogenesis so as to improve women′ s health. The polymorphisms of those genes related to MS and research progress were reviewed in this paper.