Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.

doi:10.1167/iovs.13-12611

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Article

Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.

Investigative ophthalmology & visual science - 2 Jan 2014

Mootha V Vinod, Gong Xin, Ku Hung-Chih, Xing Chao

Abstract excerpt

PURPOSE: We tested the association between two intronic polymorphisms (CTG18.1 and rs613872) in TCF4 and Fuchs' endothelial corneal dystrophy (FECD), and analyzed their segregation patterns in families. METHODS: We recruited 120 unrelated Caucasian subjects with FECD and 100 controls. Available family members of probands were recruited. Genotyping of the single nucleotide polymorphism (SNP) rs613872 was performed...

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PMID: 24255041
DOI: 10.1167/iovs.13-12611
PMCID: PMC3880006

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TCF4

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