Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration.

doi:10.1038/ejhg.2013.14

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Article

Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration.

European journal of human genetics : EJHG - 1 Oct 2013

Ardeljan Daniel, Meyerle Catherine B, Agron Elvira, Wang Jie Jin, Mitchell Paul, Chew Emily Y, Zhao Jing, Maminishkis Arvydas, Chan Chi-Chao, Tuo Jingsheng

Abstract excerpt

Age-related macular degeneration (AMD) is a leading cause of irreversible central visual loss in the elderly. A recent genome-wide association studies (GWAS) reported that rs9621532 near the tissue inhibitor of metalloproteinase 3 (TIMP3)/synapsin III (SYN3) region of 22q12.3 is associated with AMD. In this study, we characterize its phenotypic influence on AMD using three independent study cohorts: case-control...

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Identifiers

PMID: 23422939
DOI: 10.1038/ejhg.2013.14
PMCID: PMC3778351

Genes

TIMP3
SYN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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