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Purpose <p>To investigate the association between genetic variants susceptible to exudative age-related macular degeneration (AMD) and the treatment response to as-needed intravitreal brolucizumab (IVBr) therapy.</p> Study design <p>Interventional study</p> Methods <p>This retrospective study included 103 treatment-naïve eyes with exudative AMD. All eyes received three monthly IVBr injections (6.0 mg/0.05 mL) followed by a pro re nata regimen for 12 months. Seven major AMD-associated single nucleotide polymorphisms—<i>ARMS2</i> A69S (rs10490924), <i>CFH</i> I62V (rs800292), <i>CFH</i> rs1329428, <i>C2-CFB-SKIV2L</i> rs429608, <i>C3</i> rs2241394, <i>CETP</i> rs3764261, and <i>ADAMTS9</i> rs6795735—were genotyped using TaqMan assays. The requirement for retreatment, the number of additional injections, and visual outcomes were compared across genotypes.</p> Results <p>Of the 103 patients, 68 (66.0%) required additional injections. The T allele of <i>ARMS2</i> A69S was significantly more frequent in the retreatment group than in the retreatment-free group (65.0% vs. 42.9%, <i>p</i> = 1.9 × 10⁻<sup>3</sup>) and remained independently associated with retreatment after adjustment for age, sex, and baseline visual acuity (<i>p</i> = 3.0 × 10⁻<sup>3</sup>). Eyes with the TT genotype required significantly more additional injections than those with the TG or GG genotypes (2.4 ± 1.7 vs. 1.3 ± 1.6 and 1.3 ± 1.5, respectively; <i>p</i> = 5.0 × 10⁻<sup>3</sup>). Kaplan–Meier analysis demonstrated a significant difference in retreatment-free survival among <i>ARMS2</i> genotypes (<i>p</i> = 4.1 × 10⁻<sup>4</sup>). Visual outcomes did not differ across any genotypes.</p> Conclusions <p><i>ARMS2</i> A69S may serve as a predictor of recurrence and number of additional injections in as-needed brolucizumab therapy for exudative AMD.</p>

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Genetic factors associated with response to as-needed brolucizumab treatment for exudative age-related macular degeneration

  • 期刊论文

  • 发表日期：

    2026年5月19日

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  • Seigo Yoneyama,
  • Yoichi Sakurada,
  • Yoshiko Fukuda,
  • Taiyo Shijo,
  • Yumi Kotoda,
  • Wataru Kikushima,
  • Fumihiko Mabuchi,
  • Kenji Kashiwagi

摘要

Purpose

To investigate the association between genetic variants susceptible to exudative age-related macular degeneration (AMD) and the treatment response to as-needed intravitreal brolucizumab (IVBr) therapy.

Study design

Interventional study

Methods

This retrospective study included 103 treatment-naïve eyes with exudative AMD. All eyes received three monthly IVBr injections (6.0 mg/0.05 mL) followed by a pro re nata regimen for 12 months. Seven major AMD-associated single nucleotide polymorphisms—ARMS2 A69S (rs10490924), CFH I62V (rs800292), CFH rs1329428, C2-CFB-SKIV2L rs429608, C3 rs2241394, CETP rs3764261, and ADAMTS9 rs6795735—were genotyped using TaqMan assays. The requirement for retreatment, the number of additional injections, and visual outcomes were compared across genotypes.

Results

Of the 103 patients, 68 (66.0%) required additional injections. The T allele of ARMS2 A69S was significantly more frequent in the retreatment group than in the retreatment-free group (65.0% vs. 42.9%, p = 1.9 × 10⁻3) and remained independently associated with retreatment after adjustment for age, sex, and baseline visual acuity (p = 3.0 × 10⁻3). Eyes with the TT genotype required significantly more additional injections than those with the TG or GG genotypes (2.4 ± 1.7 vs. 1.3 ± 1.6 and 1.3 ± 1.5, respectively; p = 5.0 × 10⁻3). Kaplan–Meier analysis demonstrated a significant difference in retreatment-free survival among ARMS2 genotypes (p = 4.1 × 10⁻4). Visual outcomes did not differ across any genotypes.

Conclusions

ARMS2 A69S may serve as a predictor of recurrence and number of additional injections in as-needed brolucizumab therapy for exudative AMD.