Stan?áková, A. and M. Laakso (2014). "Genetics of metabolic syndrome." Reviews in Endocrine and Metabolic Disorders 15(4): 243-252.
摘要：代謝綜合征（MetS）是一系列的代謝失調(diào)，包括心血管疾病和2型糖尿病風險增高。中心型肥胖和胰島素抵抗認為是MetS發(fā)病原因。MetS認為是遺傳原因?qū)е碌?，因此linkage analysis, candidate gene approach, and genome-wide association (GWA) studies用來研究其機制。已發(fā)現(xiàn)極少的SNP與lipid metabolism相關。遺傳研究表明極少的證據(jù)指向common genetic background。環(huán)境的影響如甲基化在MetS中發(fā)揮重要的作用
- Pathogenesis of metabolic syndrome
insulin resistance and central obesity 只能解釋一部分機制 - Genetic studies of metabolic syndrome
候選基因關聯(lián)分析發(fā)現(xiàn)MetS與energy intake, energy expenditure and body weight (e.g. leptin, leptin receptor, melanocortin receptors, UCP2, neuropeptide Y), lipid and carbohydrate metabolism (e.g. β2- and β3- adrenergic receptors, hormone-sensitive lipase, lipoprotein lipase, hepatic lipase, apolipoprotein E, apolipoprotein A5, fatty acid-binding protein 2, apolipoprotein C-III, glycogene synthase, PPARG), inflammation (TNF-α, IL1-β), insulin signaling (IRS-1, IGF1R), or blood pressure (ACE)相關. 雖然這種方法發(fā)現(xiàn)一些位點與MetS相關, 但是不能重復，可能是因為 lack of statistical power.
Paste_Image.png
Paste_Image.png
FTO and MC4R are the strongest candidates thought to have primary effects on body weight regulation, and IRS1 has important effect on insulin resistance
- Epigenetics and microRNAs in the pathogenesis of metabolic syndrome
表觀遺傳如DNA甲基化和組蛋白修飾在MetS發(fā)生過程中起著重要的作用。
