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Article

Age-related macular degeneration phenotypes associated with mutually exclusive homozygous risk variants in CFH and HTRA1 genes.

Retina (Philadelphia, Pa.) - 1 May 2015

Chong Elaine W, Amirul Islam Fakir M, Robman Liubov D, Aung Khin Zaw, Richardson Andrea J, Baird Paul N, Guymer Robyn H

Abstract excerpt

PURPOSE: To determine age-related macular degeneration (AMD) phenotypes associated with mutually exclusive homozygotic risk variants in rs1061170 (CFH) and rs11200638 (HTRA1). METHODS: Nested case-control study of 2,982 eyes (2,129 control, 809 drusen ≥125 μm, 44 advanced AMD) homozygous for CFH [TT or CC] and HTRA1 [GG or AA] were analyzed using logistic regression and generalized estimating equations...

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Source

Identifiers

PMID: 25627090
DOI: 10.1097/IAE.0000000000000417

Genes

CFH
HTRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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