Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
Valentina Bilbao-Malavé 1 2 , Sergio Recalde 1 2 3 4 , Jaione Bezunartea 1 2 3 , Maria Hernandez-Sanchez 1 2 3 4 , Jorge González-Zamora 1 2 , Leyre Maestre-Rellan 1 , José María Ruiz-Moreno 4 5 6 7 , Javier Araiz-Iribarren 5 8 9 , Luis Arias 4 10 , Jorge Ruiz-Medrano 6 , Ignacio Flores-Moreno 4 6 , Sara Llorente-González 4 11 , Guillermo Fernández-Sanz 4 11 , Clara Berrozpe-Villabona 4 11 , Alvaro Velazquez-Villoria 12 , Ester Carreño 13 , Patricia Fernandez-Robredo 1 2 3 4 , Alfredo Garcia-Layana 1 2 3 4
(1) Ophthalmology Experimental Laboratory, Clínica Universidad de Navarra, Pamplona, Spain.
(2) Department of Ophthalmology, Clínica Universidad de Navarra, Pamplona, Spain.
(3) Instituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, Spain.
(4) Red Temática de Investigación Cooperativa en Salud: ''Prevention, Early Detection, and Treatment of the Prevalent Degenerative and Chronic Ocular Pathology" from (RD16/0008/0021), Ministerio de Ciencia, Innovación y Universidades, Instituto de Salud Carlos III, Madrid, Spain.
(5) Department of Ophthalmology, Universidad de Castilla-La Mancha, Ciudad Real, Spain.
(6) Department of Ophthalmology, Hospital Universitario Puerta de Hierro de Majadahonda, Madrid, Spain.
(7) Vissum Corporación Oftalmológica, Alicante, Spain.
(8) Instituto Clínico Quirúrgico de Oftalmología, Bilbao, Spain.
(9) Department of Ophthalmology, Hospital San Eloy, Bilbao, Spain.
(10) Hospital Universitario de Bellvitge, Barcelona, Spain.
(11) Department of Ophthalmology, Clínica Universidad de Navarra, Madrid, Spain.
(12) Clínica Villoria, Pontevedra, Spain.
(13) Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.
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.
CITA DEL ARTÍCULO PLoS One. 2020 Jul 30;15(7):e0236071. doi: 10.1371/journal.pone.0236071