What question did this study set out to answer?

To identify and characterize genetic variants associated with age-related macular degeneration in an Indonesian population.

April 22, 2026Open Access

Unveiling the genetic landscape of age-related macular degeneration in an Indonesian cohort: A targeted sequencing study

Key Points

To identify and characterize genetic variants associated with age-related macular degeneration in an Indonesian population.
Conducted a descriptive study with 10 individuals (5 AMD patients, 5 controls)
Performed targeted sequencing on 65 AMD-associated genes
Utilized statistical tests such as Wilcoxon rank-sum and Chi-square for analysis.
Identified 17 single-nucleotide variants in AMD patients, including common and rare variants.
Common variants HTRA1 and ARMS2 were significantly more frequent in AMD patients than controls.
Three potential novel genetic variants (CDKN2B/CDKN2B-AS1, LOXL1, and COL11A1) were found exclusively in AMD patients.

Abstract

Context: Age-related macular degeneration (AMD) is the leading cause of irreversible central vision loss among the elderly population with strong genetic contributors in AMD pathogenesis. Aims: The aims of this study were to identify and characterize genetic variants associated with AMD within Indonesian patients using targeted gene sequencing. Settings and Design: This descriptive study compared five patients with AMD and five controls conducted at Dr. Sardjito General Hospital between February and March 2025. Subjects and Methods: Participants underwent a comprehensive ophthalmic examination, including best-corrected visual acuity, optical coherence tomography, and funduscopy. Genomic DNA was extracted from peripheral blood, followed by targeted sequencing of 65 AMD-associated genes on chromosomes 1q32, 6, 9, 10, 14, and 15. Genotype calling was performed by a third-party laboratory. Statistical Analysis Used: Baseline characteristics were analyzed using the Wilcoxon rank-sum and Chi-square test. Results: Seventeen single-nucleotide variants were identified in patients with AMD, comprising 6 missense, 4 3’UTR, 6 intronic, and 1 genic upstream transcript variant. HTrA serine peptidase 1 (HTRA1) (rs2284665 and rs11200638) and age-related macular susceptibility-2 (ARMS2) rs3750847 were more frequent in the AMD group compared to the controls (5/5 vs. 3/5). Furthermore, we identified four variants only in patients with AMD: cyclin-dependent kinase inhibitor 2B (CDKN2B)/CDKN2B-AS1 rs1063192 (5/5 vs. 0/5), lysyl oxidase-like 1 (LOXL1) rs2165241 (4/5 vs. 0/5), collagen type XI alpha 1 chain (COL11A1) rs374676938 (2/5 vs. 0/5), and complement factor H (CFH) rs183474263 (1/5 vs. 0/5). Conclusions: We confirmed common variants of HTRA1 (rs2284665 and rs11200638), ARMS2 rs3750847, and a rare variant of CFH rs183474263, which was previously reported, among Indonesian patients with AMD. We also highlight three potential novel genetic baselines for AMD (CDKN2B/CDKN2B-AS1 rs1063192, LOXL1 rs2165241, and COL11A1 rs374676938).

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