在眼病调查基础上如何开展分子流行病学研究

How to develop molecular epidemiology in conventional epidemiology survey on eye diseases in China

分子流行病学是疾病研究中将流行病学和分子生物学相结合的一个流行病学新分支，它主要是在基因、蛋白质水平上寻找生物学标志与疾病发生发展的关系，从而评估疾病的发生倾向、判定疾病的分布与暴露。眼病分子流行病学研究可以在传统流行病学调查的人群中，选择描述性眼病调查、病例对照研究、巢式病例对照研究、队列研究等设计，应用单核苷酸多态性、基因拷贝数多态性、生物芯片（微阵列）、microRNA、表观遗传学、DNA测序等分子生物学技术，测定体液及眼组织内的核酸、蛋白质、脂质及其代谢产物，从而探讨年龄相关性白内障、年龄相关性黄斑变性、青光眼和糖尿病视网膜病变等复合性眼病的病因、发病机制、易感性及防治措施，为眼病的诊断和治疗带来新的突破。

Molecular epidemiology is a new branch of eye epidemiology that combines theories and methods in both epidemiology and molecular biology. The definition of molecular epidemiology is to use biological and, in particular, genetic markers （nucleic acid, protein） as measures for detecting the propensity of a disease developing, or as an indicator of a disease or an exposure in the studies of disease distribution. Molecular epidemiology has the same objectives as conventional ophthalmic epidemiology in a defined population. The main designs used in ophthalmic molecular epidemiology include descriptive study, case control study, and nested case control study. Currently, molecular experimental techniques mainly include single nucleotide polymorphism, ELISA, protein and mRNA array, microRNA and the study of epigenetic markers. Gene susceptibility biomarker is one of the most commonly used molecular markers. The findings of ophthalmic molecular epidemiology studies can be used to design personalized therapy. Undoubtedly, ophthalmic molecular epidemiology will evolve and develop in the new era for the prevention and control of complex eye diseases such as age-related macular degeneration, cataract, glaucoma and diabetic retinopathy.