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Article

Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus.

Investigative ophthalmology & visual science - 12 Apr 2013

Li Xiaohui, Bykhovskaya Yelena, Canedo Ana Laura Caiado, Haritunians Talin, Siscovick David, Aldave Anthony J, Szczotka-Flynn Loretta, Iyengar Sudha K, Rotter Jerome I, Taylor Kent D, Rabinowitz Yaron S

Abstract excerpt

PURPOSE: Single nucleotide polymorphisms (SNPs) located near or within the COL5A1 gene, at 9q34.2-q34.3 chromosomal region have been reported in association with central corneal thickness (CCT). Using family linkage analysis, we identified a keratoconus susceptibility locus at 9q34. These findings led us to perform an association study between COL5A1 variation and keratoconus susceptibility. METHODS: A Caucasian...

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Identifiers

PMID: 23513063
DOI: 10.1167/iovs.13-11601
PMCID: PMC3630822

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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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