Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Mar 11:15:1101-1108.
doi: 10.2147/OPTH.S298310. eCollection 2021.

Associations of ARMS2 and CFH Gene Polymorphisms with Neovascular Age-Related Macular Degeneration

Supanji Supanji  1   2   3   4 , Dewi Fathin Romdhoniyyah  1   2 , Muhammad Bayu Sasongko  1   2   4 , Angela Nurini Agni  1   2   4 , Firman Setya Wardhana  1   2   4 , Tri Wahyu Widayanti  1   2   4 , Muhammad Eko Prayogo  1   2   4 , Ayudha Bahana Ilham Perdamaian  1   2 , Aninditta Dianratri  1   2 , Masashi Kawaichi  5 , Chio Oka  5
Affiliations

Associations of ARMS2 and CFH Gene Polymorphisms with Neovascular Age-Related Macular Degeneration

Supanji Supanji et al. Clin Ophthalmol. .

Abstract

Purpose: This study aimed to determine the association of ARMS2 A69S, ARMS2 del443ins54, and CFH Y402H polymorphisms with neovascular age-related macular degeneration (nAMD) for the first time in an Indonesian population.

Patients and methods: 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 CFH Y402H and ARMS2 A69S were analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP), whereas ARMS2 del443ins54 was evaluated by PCR-based assay.

Results: Significant allelic associations with nAMD were detected on all polymorphisms (P<0.05), with stronger association with the ARMS2 A69S (OR 3.13; 95% CI 2.08-4.71; P<0.001) and ARMS2 del443ins54 (OR 3.28; 95% CI 2.17-4.95; P<0.001) polymorphisms than with CFH 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 CFH Y402H (P=0.043) than for ARMS2 A69S and ARMS2 del443ins54 (P<0.001). A significant interaction between ARMS2 A69S and hypertension was documented (OR 9.53; 95% CI 3.61-25.1; P<0.001).

Conclusion: Our findings indicate that ARMS2 A69S and ARMS2 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 ARMS2 A69S was combined with the presence of hypertension.

Keywords: ARMS2; CFH; age-related macular degeneration; polymorphism.

PubMed Disclaimer

Conflict of interest statement

This study received funding from the Indonesian Government – Ministry of Research, Technology and Higher Education Research Grant and from Hibah Dana Masyarakat of Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada. The authors independently carried out this research without any interference from the funding bodies. The authors report no conflicts of interest for this work.

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Wong WL, Su X, Li X, et al. Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis. Lancet Glob Health. 2014;2(2):e106–e116. doi:10.1016/S2214-109X(13)70145-1 - DOI - PubMed
    1. Yonekawa Y, Kim IK. Clinical characteristics and current treatment of age-related macular degeneration. Cold Spring Harb Perspect Med. 2015;5(1):a017178. doi:10.1101/cshperspect.a017178 - DOI - PMC - PubMed
    1. Schwartz SG, Hampton BM, Kovach JL, Brantley MA. Genetics and age-related macular degeneration: a practical review for the clinician. Clin Ophthalmol. 2016;10:1229–1235. doi:10.2147/OPTH.S109723 - DOI - PMC - PubMed
    1. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308(5720):385–389. doi:10.1126/science.1109557 - DOI - PMC - PubMed
    1. Fritsche LG, Igl W, Bailey JNC, et al. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 2016;48(2):134–143. doi:10.1038/ng.3448 - DOI - PMC - PubMed

LinkOut - more resources