Associations of <i>ARMS2</i> and <i>CFH</i> Gene Polymorphisms with Neovascular Age-Related Macular Degeneration.



Supanji, Supanji ORCID: 0000-0001-6911-9382, Romdhoniyyah, Dewi Fathin, Sasongko, Muhammad Bayu, Agni, Angela Nurini, Wardhana, Firman Setya, Widayanti, Tri Wahyu, Prayogo, Muhammad Eko, Perdamaian, Ayudha Bahana Ilham, Dianratri, Aninditta, Kawaichi, Masashi ORCID: 0000-0003-0860-467X
et al (show 1 more authors) (2021) Associations of <i>ARMS2</i> and <i>CFH</i> Gene Polymorphisms with Neovascular Age-Related Macular Degeneration. Clinical ophthalmology (Auckland, N.Z.), 15. 1101 - 1108.

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Abstract

<h4>Purpose</h4>This study aimed to determine the association of <i>ARMS2</i> A69S, <i>ARMS2</i> del443ins54, and <i>CFH</i> Y402H polymorphisms with neovascular age-related macular degeneration (nAMD) for the first time in an Indonesian population.<h4>Patients and methods</h4>Our case-control study involved 104 nAMD and 100 control subjects. AMD diagnosis was evaluated by retinal specialists based on color fundus photography and optical coherence tomography. The polymorphisms on <i>CFH</i> Y402H and <i>ARMS2</i> A69S were analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP), whereas <i>ARMS2</i> del443ins54 was evaluated by PCR-based assay.<h4>Results</h4>Significant allelic associations with nAMD were detected on all polymorphisms (P<0.05), with stronger association with the <i>ARMS2</i> A69S (OR 3.13; 95% CI 2.08-4.71; P<0.001) and <i>ARMS2</i> del443ins54 (OR 3.28; 95% CI 2.17-4.95; P<0.001) polymorphisms than with <i>CFH</i> Y402H (OR 2.08; 95% CI 1.08-3.99; P=0.028). Genotype analysis showed a statistical difference between nAMD and the control group for all polymorphisms (P<0.05). However, the association with nAMD was weaker for <i>CFH</i> Y402H (P=0.043) than for <i>ARMS2</i> A69S and <i>ARMS2</i> del443ins54 (P<0.001). A significant interaction between <i>ARMS2</i> A69S and hypertension was documented (OR 9.53; 95% CI 3.61-25.1; P<0.001).<h4>Conclusion</h4>Our findings indicate that <i>ARMS2</i> A69S and <i>ARMS2</i> del443ins54 polymorphisms are strongly associated with the risk of nAMD for the first time in an Indonesian population. The risk of nAMD increased when the presence of risk alleles from <i>ARMS2</i> A69S was combined with the presence of hypertension.

Item Type: Article
Divisions: Faculty of Health and Life Sciences
Depositing User: Symplectic Admin
Date Deposited: 30 Apr 2021 07:06
Last Modified: 02 May 2021 00:10
DOI: 10.2147/opth.s298310
URI: https://livrepository.liverpool.ac.uk/id/eprint/3121015