Swierkowska Joanna, Gajecka Marzena
a Institute of Human Genetics, Polish Academy of Sciences , Poznan , Poland.
b Department of Genetics and Pharmaceutical Microbiology , Poznan University of Medical Sciences , Poznan , Poland.
Ophthalmic Genet. 2017 Dec;38(6):501-510. doi: 10.1080/13816810.2017.1313993. Epub 2017 Apr 28.
The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia.
A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied.
The differences in CCT measurements among those affected with diverse disorders and healthy individuals were evaluated. Then we considered the influence of genetic factors on CCT reduction. Disorders were compared based on phenotypes and sequence variants found in patients.
Specific sequence variants in COL8A2, PRDM5 and ZNF469, COL5A1 and ZNF469, and COL5A1 and COL5A2 could probably contribute to a CCT reduction in POAG, BCS, KTCN, and EDS, respectively. Similar sequence variants and phenotypes were identified and assessed in more than one disease.
目的是总结和讨论目前关于影响眼部疾病（如原发性开角型青光眼（POAG）、脆性角膜综合征（BCS）、圆锥角膜（KTCN）、埃勒斯-当洛综合征（EDS；I型、II型和VI型）、成骨不全症（OI）和近视）中中央角膜厚度（CCT）降低的遗传因素的知识。
根据PRISMA指南，通过使用PubMed等关键数据库对已发表的文献进行综述，并应用基于自身研究结果的经验。
评估了患有不同疾病的个体与健康个体之间CCT测量值的差异。然后我们考虑了遗传因素对CCT降低的影响。根据患者的表型和序列变异对疾病进行了比较。
COL8A2、PRDM5和ZNF469、COL5A1和ZNF469以及COL5A1和COL5A2中的特定序列变异可能分别导致POAG、BCS、KTCN和EDS中的CCT降低。在不止一种疾病中鉴定并评估了相似的序列变异和表型。
