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Article

LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population.

Investigative ophthalmology & visual science - 1 Apr 2011

Fan Bao Jian, Pasquale Louis R, Rhee Douglas, Li Tiansen, Haines Jonathan L, Wiggs Janey L

Abstract excerpt

PURPOSE: LOXL1 is a major genetic risk factor for exfoliation syndrome (ES) and exfoliation glaucoma (EG). Recent evidence documenting reversal of risk alleles for the disease-associated missense variants R141L and G153D suggests that these variants are not causative and that they may be proxies for other unknown functional LOXL1 variants. The purpose of this study was to investigate the disease association of...

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Source

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Identifiers

PMID: 21212179
DOI: 10.1167/iovs.10-6268
PMCID: PMC3081229

Genes

LOXL1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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