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Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration.


ABSTRACT: Age-related macular degeneration (AMD) may be associated with ABCA4 variants and is characterized by the accumulation of visual cycle-byproduct lipofuscin. Reducing retinol-binding protein 4 (RBP4), a retinol transporter protein, may reduce lipofuscin production. This study aims to assess the associations between plasma RBP4, the ABCA4 variation, and AMD severity. Sixty-seven participants were grouped into healthy/mild AMD (n = 32) and severe AMD (n = 35) groups. The latter group was older than the former group and had higher levels of RBP4 (36.8 ± 8.3 vs. 30.4 ± 7.0 μg/mL, p = 0.0012). The ten participants with six ABCA4 linked-variants had higher RBP4 than those without (37.8 ± 7.7 vs. 32.4 ± 7.9 μg/mL; p = 0.026), and eight of them had severe AMD. Univariate analyses showed that severe AMD was related to older age (OR, 1.26; 95% CI, 1.13-1.40; p < 0.0001) and to higher RBP4 levels (OR, 1.12; 95% CI, 1.04-1.20; p = 0.003), whereas the linked ABCA4 variants had no associations. After adjustment, however, only age remained significantly associated with severe AMD. This pilot study shows a trend of higher plasma RBP4 levels in severe AMD or the ABCA4-linked variants, and further age-matched studies are warranted.

SUBMITTER: Chou HD 

PROVIDER: S-EPMC10378304 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

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Analysis of Retinol Binding Protein 4 and <i>ABCA4</i> Gene Variation in Non-Neovascular Age-Related Macular Degeneration.

Chou Hung-Da HD   Hwang Yih-Shiou YS   Chen Kuan-Jen KJ   Wu Wei-Chi WC   Liu Laura L   Ou Shyh-Tyan ST   Liao Webber W   Wang Cheng-Chi CC   Lin Tom T   Lai Chi-Chun CC  

Diagnostics (Basel, Switzerland) 20230719 14


Age-related macular degeneration (AMD) may be associated with <i>ABCA4</i> variants and is characterized by the accumulation of visual cycle-byproduct lipofuscin. Reducing retinol-binding protein 4 (RBP4), a retinol transporter protein, may reduce lipofuscin production. This study aims to assess the associations between plasma RBP4, the <i>ABCA4</i> variation, and AMD severity. Sixty-seven participants were grouped into healthy/mild AMD (<i>n</i> = 32) and severe AMD (<i>n</i> = 35) groups. The  ...[more]

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