高度近视致病基因的研究新进展

高度近视在人群当中的患病率较高,是导致低视力及盲的遗传性眼病之一.近视是遗传和环境等多种因素相互作用的结果,高度近视的发生具有明显的遗传倾向,目前已发现了多个高度近视的候选基因位点,包括胶原类基因、基膜类基因、生长因子类基因、转录因子类基因等,本研究就高度近视致病基因研究的新进展做一综述.     

高度近视遗传学研究进展

近视是常见的眼部疾病,其形成受到基因和环境因素的共同作用。高度近视与遗传密切相关,笔者就高度近视的遗传学研究进展展开综述,进一步阐述遗传因素对近视形成的影响。     

近视相关的遗传学研究进展

近视是极为常见的眼屈光不正状态,近视发病率逐年上升且发病年龄趋于提前,已成为危害人们视觉健康的重大公共卫生问题。研究表明,近视是遗传因素和环境因素及基因-环境交互作用影响的多因素复杂疾病。遗传学包括经典的遗传学和表观遗传学。表观遗传学研究的出现为近视基础研究开拓了新视角。近年来不断有研究者提出近视发生可能与表观遗传学有关联,而且有越来越多的实验研究也证明了该观点。近视的遗传研究通过使用连锁法和全基因组关联方法,现已鉴定出高度近视以及近视的多个近视基因和候选基因,极大地加深了对近视遗传学基础的认识。本文就近年来近视在经典遗传学和表观遗传学两个方面的研究进行综述。     

早期生长因子1和晶状体蛋白α-A基因多态与近视的关联性研究

目的 本实验通过关联分析,研究早期生长因子1（EGR1）和晶状体蛋白α-A （CRYAA）基因的标签单核苷酸多态性（tSNPs）与人类近视的关系.方法 实验研究.抽取2870名志愿者外周静脉血并制备DNA,其中包括1052名对照者（对照组）、615名中度近视患者（近视组1）、640名高度近视患者（近视组2）和563名先天性高度近视患者（近视组3）.分别用直接测序和限制性片段长度多态性（ RFLP）的方法对EGR1基因的1个tSNP（rs11743810）和CRYAA基因的2个tSNPs（rs872331、rs3788061）进行基因型分析;然后用x2检验分析tSNPs与近视易感性的关系.结果 对于EGR1基因的1个tSNP和CRYAA基因的2个tSNPs的基因型和等位基因频率,近视（全部）组和对照组之间差异无统计学意义（rs11743810：P=0.700、0.922;rs872331：P=0.377、0.166;rs3788061：P=0.444、0.303）.近视各组与对照组分别进行比较,差异也无统计学意义.结论 EGR1和CRYAA基因的多态与本组人类近视的遗传易感性无关.与动物模型不同,EGR1对人类近视的遗传易感性很可能没有明显影响.     

高度近视的病因学研究进展

高度近视发生的内因、外因，包括遗传倾向，相关基因定位，巩膜胶原白体免疫学说，视网膜生物活性物质失调学说，环境因素等，本研究就这些因素对高度近视发病的影响做一综述。现统一的认识有：①高度近视具有明显的遗传倾向。②迄今为止，已找到4个高度近视相关基因，它们的遗传方式均为常染色体显性遗传。③高度近视的巩膜组织病理改变和胶原代谢障碍引发了人们对高度近视免疫相关基因的深入研究。已发现HLAⅡ类基因与部分高度近视具有相关性。④视网膜中存在的生物活性物质直接或间接参与了形觉剥夺性近视的形成。⑤环境因素并非高度近视发病的决定因素，它仅起一定程度的促进作用。将今后的工作重点放在高度近视基因定位的研究，基因表达的调控及巩膜胶原代谢、网膜生物活性物质之间的关系研究上，无疑会进一步揭示高度近视的病因，为防治高度近视开辟新途径。     

近视病因与发病机制的研究进展

近视是发病率较高的眼病,其中高度近视眼底病变是常见的致盲病因.通常认为近视的发生是环境与遗传因素共同作用的结果.而病理性近视的发生,目前认为与遗传因素高度相关,国内外对其基因定位有多种认识,但尚无定论.绝大多数近视属轴性近视,由玻璃体腔的过度延伸导致眼球前后径延长、光线经屈光介质作用后聚焦于视网膜前所致.近视的发生发展受到高位神经中枢和眼内局部两种作用机制的调控.对近视的病因从遗传和环境两方面因素进行综述,重点阐述在基因水平、细胞水平和分子水平上对近视发病机制的研究进展.     

高度近视的遗传模式探究

近视是目前全球发病率最高的屈光不正,高度近视常伴有其他并发症如青光眼、黄斑变性、白内障和视网膜脱落等病理性变化,是引起成人失明的主要原因之一.但迄今为止,近视的发生发展机制仍十分不清楚,因而仍无有效的防治方法.人类近视的发病是受到遗传或环境因素以及遗传和环境因素双重的影响.而遗传因素在高度近视的发病中起主要的作用,目前报道的高度近视遗传模式有X染色体隐性遗传、常染色体隐性遗传及常染色体显性遗传.此文就高度近视的遗传模式进行进一步的探究.     

高度近视致病基因的研究进展

高度近视是成年人致盲的重要原因之一,遗传因素在其发病中起重要作用.本文总结近年来高度近视基因定位的研究进展,就高度近视的遗传因素、遗传方式、候选基因的筛查、相关基因定位的分子遗传学研究方法和进展加以综述.尽管尚未发现明确的致病基因,目前已肯定的高度近视基因位点有9个,包括MYP1～MYP5,MYP11、7.2q37.1、Xq23-q25和15q12-q13.     

近视的分子遗传学研究进展

近视是一种常见的眼病,有中低度近视(屈光度<-6.00D)和高度近视(屈光度≥-6.00D)之分。遗传因素是近视的发病原因之一。基于分子遗传学的研究,32个中低度近视和高度近视遗传基因位点已被定位。本文即对近视基因定位和候选基因筛选的遗传学研究进展作一综述。     

常染色体显性遗传高度近视一家系与MYP3基因连锁分析

高度近视又称病理性近视，是指屈光度在～6．00D以上，异常眼轴延长，近视度数持续进行性加深，发展快，成年后变慢或相对静止，多伴有后巩膜葡萄肿、眼底退行性变性、视网膜脱离、青光眼、白内障、弱视、玻璃体混浊及黄斑出血等严重并发症的一类近视。目前的研究已确定高度近视与遗传的关系，并发现与其相关的多个候选基因位点，说明高度近视复杂的遗传方式和高度的遗传异质性。     

Juvenile myopia progression,risk factors and interventions

The development and progression of early onset myopia is actively being investigated. While myopia is often considered a benign condition it should be considered a public health problem for its visual, quality of life, and economic consequences. Nearly half of the visually impaired population in the world has uncorrected refractive errors, with myopia a high percent of that group. Uncorrected visual acuity should be screened for and treated in order to improve academic performance, career opportunities and socio-economic status.Genetic and environmental factors contribute to the onset and progression of myopia. Twin studies have supported genetic factors and research continues to identify myopia genetic loci. While multiple myopia genetic loci have been identified establishing myopia as a common complex disorder, there is not yet a genetic model explaining myopia progression in populations.Environmental factors include near work, education levels, urban compared to rural location, and time spent outdoors. In this field of study where there continues to be etiology controversies, there is recent agreement that children who spend more time outdoors are less likely to become myopic.Worldwide population studies, some completed and some in progress, with a common protocol are gathering both genetic and environmental cohort data of great value. There have been rapid population changes in prevalence rates supporting an environmental influence.Interventions to prevent juvenile myopia progression include pharmacologic agents, glasses and contact lenses. Pharmacological interventions over 1–2 year trials have shown benefits. Peripheral vision defocus has been found to affect the emmetropization process and may be affected by wearing glasses or contacts. Accommodation accuracy also has been implicated in myopia progression.Further research will aim to assess both the role and interaction of environmental influences and genetic factors.     

Selected review on genetic factors in myopia

This article reviews representative literature concerning pedigrees for myopia, heritability studies on refractive error and the ocular components, and other work relating to genetic factors in myopia development. Low myopia most likely reflects the influences of multiple genes. Some types of high myopia may have monogenic inheritance. Refractive error and the ocular refractive components have heritabilities intermediate between zero and one, as complied from several studies, indicating familial resemblance, but also non-genetic variation. It is likely that both heredity and environment have roles in determining refractive status. An understanding of their respective roles awaits the elucidation of the cellular and anatomical mechanisms of myopia development.     

A synopsis of the prevalence rates and environmental risk factors for myopia

The prevalence rates of myopia are higher in urban Asian cities such as Hong Kong and Singapore. One observation over the past few decades is that the prevalence rates of myopia have been rising and there is an epidemic of myopia in Asia. The age‐old question of the roles of nature and nurture in this process remains unanswered. The strongest evidence for an environmental link to myopia is near work activity. Childhood exposure to night lighting has also been explored in different studies but the results have been mixed. Twin studies, segregation analysis and association studies have demonstrated that hereditary factors play an important role in myopia development. The exact nature and interplay of genetic and environmental factors is not known and data suggest that environmental factors may interact with genetic factors to increase the risks of developing myopia. Future research is needed to identify specific modifiable lifestyle factors and genetic markers for myopia. This will enable preventive measures such as health education to be instituted.     

青少年近视危险因素综述

近视是危害青少年视力最主要的病因,其发病原因复杂。近年来,在全球各个地区针对近视发生的危险因素进行了大量的流行病学研究,这些研究中大多数为横断面研究,纵向队列研究相对缺乏。总的来说,近视的发生是遗传易感性和环境暴露之间复杂相互作用的结果。本文将对近年来国内外学者关于近视相关危险因素的研究作一综述。     

近视相关影响因素的研究进展

近视(myopia)不仅是全球性的公共卫生问题,同样也是重大的社会经济问题.近视的发病机制存在各种假说和推测,基本肯定是环境因素和遗传因素共同作用的结果.虽然全球各地对近视相关影响因素做了大量的流行病学研究,但多数研究采用横断面研究,纵向队列研究相对较少.本文将对近年来国内外关于近视相关影响因素的研究作一综述.     

Gene–environment interaction in myopia

Myopia is a health issue that has attracted global attention due to its high prevalence and vision-threatening complications. It is well known that the onset and progression of myopia are related to both genetic and environmental factors: more than 450 common genetic loci have been found to be associated with myopia, while near work and outdoor time are the main environmental risk factors. As for many complex traits, gene–environment interactions are implicated in myopia development. To date, several genetic loci have been found to interact with near work or educational level. Gene–environment interaction research on myopia could yield models that provide more accurate risk predictions, thus improving targeted treatments and preventive strategies. Additionally, such investigations might have the potential to reveal novel genetic information. In this review, we summarised the findings in this field and proposed some topics for future investigations.     

与青少年近视相关的环境因素分析

近视是一种全球性眼病,其不断增长的患病率给青少年的学习和生活带来了极大不便。近视的确切病因尚不清楚,目前主要认为与遗传因素及多种环境因素相关。本文就与青少年近视相关的环境因素做一总结分析,为青少年近视的防治提供新的思路。     

近视的人格因素研究现状

近视在全球范围内已成为一种常见病,在我国学生近视呈现出高发、低龄化趋势。近视影响着人们心理的发展。人格作为区别于他人的独特的心理特性,与近视也存在联系。近视患者多以内向型人格、情绪型人格为主,但也有研究表示近视患者尚未出现与正常人有显著差异的人格特质。本文查阅国内外相关文献从近视与人格因素的关系、二者的相互作用等方面对近视的人格因素研究进展进行综述。     

近视的危险因素及流行病学研究进展

近视是发病率最高的眼部疾病之一。高度近视可引起一系列严重影响患者视力及各种视觉功能的并发症,如视网膜脱离、视网膜下新生血管形成、白内障和青光眼等。近年来,大量的流行病学研究对近视在全球各个地区的分布进行了科学、细致的调查,这些研究中大多数为横断面研究,纵向队列研究相对缺乏。近半个世纪的流行病学调查显示,近视的患病率明显增加,不同种族和地区的患病率各不相同,其中经济水平较发达、工业化速度较快的东亚地区人们近视患病率增长最快。近视的发生与环境危险因素、社会经济发展和生活方式改变密切相关。许多学者对近视的分子生物学机制也进行了深入的研究,这些研究结果进一步支持了以下结论,即近视的发生是遗传易感性和环境暴露之间复杂相互作用的结果。本文对近视的危险因素及流行病学研究结果做一综述。