July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
The characterization of high myopic-associated SNPs in Asiatic populations in an European cohort of myopic maculopathy.
Author Affiliations & Notes
  • Sergio Recalde
    Ophthalmology Experimental Lab., Clinica Universidad de Navarra, Pamplona, Navarra, Spain
    IDISNA, Navarra Institute for Health Research, Pamplona, Navarra, Spain
  • Maria Hernandez
    Ophthalmology Experimental Lab., Clinica Universidad de Navarra, Pamplona, Navarra, Spain
    IDISNA, Navarra Institute for Health Research, Pamplona, Navarra, Spain
  • Valentina Bilbao
    Ophthalmology department, Clinica Universidad de Navarra, Pamplona, Navarra, Spain
    Ophthalmology Experimental Lab., Clinica Universidad de Navarra, Pamplona, Navarra, Spain
  • Leyre Maestre-Rellan
    Ophthalmology Experimental Lab., Clinica Universidad de Navarra, Pamplona, Navarra, Spain
  • Idoia Belza
    Ophthalmology Experimental Lab., Clinica Universidad de Navarra, Pamplona, Navarra, Spain
    IDISNA, Navarra Institute for Health Research, Pamplona, Navarra, Spain
  • Elena Alonso
    Ophthalmology Experimental Lab., Clinica Universidad de Navarra, Pamplona, Navarra, Spain
    IDISNA, Navarra Institute for Health Research, Pamplona, Navarra, Spain
  • Jaione Bezunartea
    Ophthalmology Experimental Lab., Clinica Universidad de Navarra, Pamplona, Navarra, Spain
    IDISNA, Navarra Institute for Health Research, Pamplona, Navarra, Spain
  • Javier Araiz
    Ophthalmology department, San Eloy Hospital, Bilbao, Vizcaya, Spain
    Surgical-Clinical Institute of Ophthalmology, University of the Basque Country, Bilbao, Spain
  • Jose Maria Ruiz-Moreno
    Ophthalmology department, Castilla La Mancha University, Albacete, Albacete, Spain
    Ophthalmology department, Baviera European Institute of Retina, Alicante, Alicante, Spain
  • Patricia Fernandez
    Ophthalmology Experimental Lab., Clinica Universidad de Navarra, Pamplona, Navarra, Spain
    IDISNA, Navarra Institute for Health Research, Pamplona, Navarra, Spain
  • Alfredo Garcia-Layana
    Ophthalmology department, Clinica Universidad de Navarra, Pamplona, Navarra, Spain
    Ophthalmology Experimental Lab., Clinica Universidad de Navarra, Pamplona, Navarra, Spain
  • Footnotes
    Commercial Relationships   Sergio Recalde, None; Maria Hernandez, None; Valentina Bilbao, None; Leyre Maestre-Rellan, None; Idoia Belza, None; Elena Alonso, None; Jaione Bezunartea, None; Javier Araiz, None; Jose Maria Ruiz-Moreno, None; Patricia Fernandez, None; Alfredo Garcia-Layana, Novartis (S), Roche (S), Thea (S)
  • Footnotes
    Support  This work has been developed by members of the RETICS OFTARED (RD12/0034) “Prevention, Early Detection and Treatment of the Prevalent Degenerative and Chronic Ocular Pathology” from the Instituto de Salud Carlos III from the Ministerio de Economia y Competitividad, Spain. This work has been partly funded by the FIS project PI15/01374, integrated in the National Plan of I+D+I 2013-2016; the ISCIIISubdireccion General de Redes y Centros de Investigacion Cooperativa; the European Program FEDER, the grant PI15/01374 and the Jesus Gangoiti Barrera Foundation.
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 3142. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Sergio Recalde, Maria Hernandez, Valentina Bilbao, Leyre Maestre-Rellan, Idoia Belza, Elena Alonso, Jaione Bezunartea, Javier Araiz, Jose Maria Ruiz-Moreno, Patricia Fernandez, Alfredo Garcia-Layana; The characterization of high myopic-associated SNPs in Asiatic populations in an European cohort of myopic maculopathy.. Invest. Ophthalmol. Vis. Sci. 2019;60(9):3142.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose : To evaluate the contribution of some of the most important SNPs associated to high myopia in Asians to the development of myopic maculopathy (MM) in an European population.

Methods : A case-control prospective study with 250 unrelated highly myopic Spanish Caucasian patients and 181 non-myopic controls were recruited from various centers of OFTARED (RD16/0008). Highly myopic patients were divided into two groups. One group with MM category 0 or 1 at least in one eye, which was used as myopic maculopathy control; and the other group, with MM category 2, 3, 4 or any “plus” lesion, according to Ohno-Matsui et al and Ruiz-Medrano et al classification systems. Genomic DNA was extracted from oral swabs. A set of 6 SNPs in 5 genes were genotyped by Real-time PCR using validated TaqMan assays: SCO2 (rs74315510), CCDC102B (rs11873439) Cromosome 15 (rs634990), PAX6 (rs644242) and BLID (rs577948). Univariate logistic regression analysis adjusted for age, sex, cholesterol, diabetes and hypertension was performed for each allele and genotype frequency analysis.

Results : All the studied SNPs were in Hardy-weinberg equilibrium (p>0.05). The allelic and genotype frequencies of all studied SNPs did not show statistical differences (p>0.05) between MM group and control groups.

Conclusions : None of the studied SNPs associated in the development of high myopia and myopic maculopathy in Asiatic populations showed any relation with the development of myopic maculopathy in an European cohort. The relationship between genotype/race seems to be very important along with environmental factors in the development of this disease.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×