Ophthalmology Experimental Laboratory, Clínica Universidad de Navarra, Pamplona, Spain.
Department of Ophthalmology, Clínica Universidad de Navarra, Pamplona, Spain.
PLoS One. 2020 Jul 30;15(7):e0236071. doi: 10.1371/journal.pone.0236071. eCollection 2020.
High myopia and the subsequent degenerative changes of the retina, choroid, and sclera, known as myopic maculopathy (MM), are a serious visual problem in many Asian countries, and are beginning to be so in the south of Europe, especially in the Mediterranean. It is therefore necessary to carry out genetic and environmental studies to determine the possible causes of this disease. This study aims to verify if the genetic factors that have been most related to Asian populations are also associated in two Spanish cohorts. Eight SNPs from six genes (PAX6, SCO2, CCDC102B, BLID, chromosome 15q14, and COL8A1) along with demographic, ophthalmic and environmental factors were analysed in two cohorts from a total of 365 highly myopic subjects and 177 control subjects. The genetic analysis showed that COL8A1 SNP rs13095226 was associated with the development of choroidal neovascularization (CNV) and also seems to play an important role in the increase of axial length. The SNP rs634990 of chromosome 15q14 also showed a significant association with MM, although this was lost after the Bonferroni correction. Additional demographic and environmental factors, namely age, sex, smoking status, and pregnancy history, were also found to be associated with MM and CNV in this population.
高度近视及随之而来的视网膜、脉络膜和巩膜退行性改变，即近视性黄斑病变（MM），是许多亚洲国家严重的视觉问题，在欧洲南部，尤其是在地中海地区，也开始成为一个问题。因此，有必要开展遗传和环境研究，以确定这种疾病的可能病因。本研究旨在验证在两个西班牙队列中，与亚洲人群最相关的遗传因素是否也与之相关。在总共 365 名高度近视患者和 177 名对照者的两个队列中，分析了六个基因（PAX6、SCO2、CCDC102B、BLID、15 号染色体 q14 和 COL8A1）的 8 个 SNP 以及人口统计学、眼科和环境因素。遗传分析表明，COL8A1 SNP rs13095226 与脉络膜新生血管（CNV）的发生有关，似乎在眼轴长度增加方面也起着重要作用。染色体 15q14 的 SNP rs634990 也与 MM 有显著关联，但在经过 Bonferroni 校正后，这种关联就消失了。在该人群中，还发现了其他人口统计学和环境因素，如年龄、性别、吸烟状况和妊娠史，与 MM 和 CNV 有关。
