Genetic and Environmental Risk Factors for Keratoconus

被引:57
作者
Lucas, Sionne E. M. [1 ]
Burdon, Kathryn P. [1 ]
机构
[1] Univ Tasmania, Menzies Inst Med Res, Hobart, Tas 7001, Australia
来源
ANNUAL REVIEW OF VISION SCIENCE, VOL 6, 2020 | 2020年 / 6卷
关键词
keratoconus; corneal ectasia; genetics; inherited eye disease; complex disease; CENTRAL CORNEAL THICKNESS; AUTOSOMAL-DOMINANT KERATOCONUS; GENOME-WIDE ASSOCIATION; CANDIDATE GENE; INTRAOCULAR-PRESSURE; FAMILIAL KERATOCONUS; SEGREGATION ANALYSIS; MUTATIONAL ANALYSIS; ALLERGIC DISEASES; LINKAGE ANALYSIS;
D O I
10.1146/annurev-vision-121219-081723
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Keratoconus, a progressive corneal ectasia, is a complex disease with both genetic and environmental risk factors. The exact etiology is not known and is likely variable between individuals. Conditions such as hay fever and allergy are associated with increased risk, while diabetes may be protective. Behaviors such as eye rubbing are also implicated, but direct causality has not been proven. Genetics plays a major role in risk for some individuals, with many large pedigrees showing autosomal inheritance patterns. Several genes have been implicated using linkage and follow-up sequencing in these families. Genome-wide association studies for keratoconus and for quantitative traits such as central corneal thickness have identified several genetic loci that contribute to a cumulative risk for keratoconus, even in people without a family history of the disease. Identification of risk genes for keratoconus is improving our understanding of the biology of this complex disease.
引用
收藏
页码:25 / 46
页数:22
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