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剥脱综合征(XFS)是一种与年龄相关、多基因遗传的全球性眼病,是继发性青光眼常见的原因之一.XFS的发病与遗传和环境因素有关,其确切的致病原因、病理机制尚不完全清楚.本文对近年来XFS的分子遗传学方面的研究进展进行总结,从赖氨酰氧化酶样1(LOXL1)基因、簇蛋白(CLU)基因、接触素有关蛋白2(CNTNAP2)基因、载脂蛋白E(ApoE)基因、基质金属蛋白酶(MMPs)基因、谷胱甘肽转移酶(GST)基因、转化生长因子-β1(TGF-β1)基因、肿瘤坏死因子-α(TNF-α)基因等可能参与XFS的发生和发展方面逐一阐述,在分子遗传学水平加深对XFS的认识.“,”Exfoliation syndrome (XFS),one of the most common causes of glaucoma,represents an age related,complex,multifactorial and late-onset disease worldwide.The etiopathogenesis involves both genetic and environmental factor.However,the exact etiopathogenesis of XFS is still unclear.The purpose of this review was to discuss the recent research progress of the molecular genetics of XFS.Some candidate genes linked to XFS include lysyl oxidase-like 1 (LOXL1) gene,clusterin (CLU) gene,contactin associated protein-like 2 (CNTNAP2) gene,apolipoprotein E (ApoE) gene,matrix metallo proteinases (MMPs) gene,glutathione S-transferase (GST) gene,transforming growth factor-β1 (TGF-β1) gene,tumor necrosis factor-α (TNF-a) gene and so on.These genes may be modifying genes for the development of XFS.