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Ophthalmic Genetics Volume 38, 2017 - Issue 4
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Research Reports

Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration

Neringa StasiukonyteMedical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
,
Rasa LiutkevicieneDepartment of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania;Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Kaunas, LithuaniaCorrespondence[email protected]
,
Alvita VilkeviciuteNeuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
,
Mantas BaneviciusDepartment of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
&
Loresa KriauciunieneDepartment of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania;Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
Pages 357-364 | Received 28 Jan 2016, Accepted 17 Sep 2016, Published online: 17 Jan 2017
 
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ABSTRACT

Background: Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of drusen containing about 40% of lipids, there have been attempts to find associations between age-related macular degeneration and genes controlling lipid metabolism.

Purpose: To determine the frequency of CYP2C19 (G681A) Rs4244285 and CYP1A2 (-163C>A) Rs762551 genotypes in patients with age-related macular degeneration.

Methods: The study enrolled 150 patients with early age-related macular degeneration and 296 age- and gender-matched healthy controls. The genotyping of Rs4244285 and Rs762551 was carried out by using the real-time polymerase chain reaction method.

Results: The CYP1A2 (-163C>A) Rs762551 C/C genotype was more frequently detected in patients with age-related macular degeneration than in the control group (32.7% vs. 21.6%, p = 0.011) and was associated with an increased risk of developing early age-related macular degeneration (OR = 1.759, 95% CI: 1.133–2.729; p = 0.012). The CYP1A2 (-163C>A) Rs762551 C/A genotype was more frequently documented in the control group compared with patients with age-related macular degeneration (46.3% vs. 30.7%, p = 0.002) and was associated with a decreased risk of having age-related macular degeneration (OR = 0.580. 95% CI: 0.362–0.929, p = 0.023) in the co-dominant model.

Conclusion: The study showed that the CYP1A2 (-163C>A) Rs762551 C/C genotype was associated with an increased risk of age-related macular degeneration.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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