July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Pharmacogenetics of the Spanish Multicenter Genetic Glaucoma Group
Author Affiliations & Notes
  • Elena Milla
    Ophthalmology, Hospital Clinic, Barcelona, Spain
  • Susana Duch
    ICO, Barcelona, Spain
  • Maria Jose Gamundi
    Hospital de Terrassa, Terrassa, Spain
  • Miguel Carballo
    Hospital de Terrassa, Terrassa, Spain
  • Footnotes
    Commercial Relationships   Elena Milla, None; Susana Duch, None; Maria Jose Gamundi, None; Miguel Carballo, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 5150. doi:
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    • Get Citation

      Elena Milla, Susana Duch, Maria Jose Gamundi, Miguel Carballo; Pharmacogenetics of the Spanish Multicenter Genetic Glaucoma Group. Invest. Ophthalmol. Vis. Sci. 2018;59(9):5150.

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

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Purpose : The field of pharmacogenetics studies the different interindividual response of a group of patients exposed to the same medication. In this study, a genetic analysis of a Spanish cohort of glaucoma patients was performed in order to assess the presence of polymorphisms of genes coding for prostaglandin and beta blockers receptors in order to establish a correlation with their therapeutic response towards these medications.

Methods : We enrolled 129 patients affected with glaucoma, which underwent complete phenotypic ophthalmologic examination in order to asses degree of response to the studied hypotensive agents, and genetic analysis. We used real-time PCR assays for the detection of four SNPs: rs3753380 and rs3766355 (PTGFR), rs1801253 (ADRB1) and rs1042714 (ADRB2). This SNP detection was based on LightCycler Technology using LightSNiP assays and LightCycler FastStart DNA Master HybProbe. High Resolution Melting Curve Analysis was performed to detect normal and variant alleles in the homozygous and heterozygous status for each SNP.

Results : Alleles A/G and G/G of PTGFR SNP rs3753380 and allele G/G of rs3766355 correlated with adequate IOP control with prostaglandin analogs (p< 0.05) and allele C/G of SNP rs1042714 (ADRB2) correlated with a lack of response with beta blockers agents (p< 0.05).

Conclusions : There is growing evidence that interindividual response towards a drug is highly influenced by its pharmacodinamics and pharmacocynetic properties. We are entering an era in which the use of pharmacogenetics to detect the optimal individual treatment will be the norm.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.


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