Association of the Hepatocyte Growth Factor Gene with Keratoconus in an Australian Population

• Published in: PloS one Vol. 9; no. 1; p. e84067
• Main Authors: Sahebjada, Srujana, Schache, Maria, Richardson, Andrea J., Snibson, Grant, Daniell, Mark, Baird, Paul N.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 08.01.2014; Public Library of Science (PLoS)
• Subjects: Adult; Analysis; Australia; Biology; Codons; Cohort Studies; Computer Simulation; Cornea; Corneal Topography; Curvature; Cytokines; Family medical history; Female; Gene expression; Genes; Genetic aspects; Genetic Association Studies; Genetic Predisposition to Disease; Genomes; Growth factors; Hepatocyte growth factor; Hepatocyte Growth Factor - genetics; HGF gene; Hospitals; Humans; Keratoconus; Keratoconus - genetics; Logistic Models; Male; Medical research; Medicine; Middle Aged; Mutation; Myopia; Patients; Polymorphism, Single Nucleotide - genetics; Population (statistical); Population studies; Privacy; Regression analysis; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Statistical analysis; Statistics; Stop codon; Studies; Australia; Melbourne Victoria Australia
• DOI: 10.1371/journal.pone.0084067
• ISSN: 1932-6203

A previous study has indicated suggestive association of the hepatocyte growth factor (HGF) gene with Keratoconus. We wished to assess this association in an independent Caucasian cohort as well as assess its association with corneal curvature. Keratoconus patients were recruited from private and public clinics in Melbourne, Australia. Non-keratoconic individuals were identified from the Genes in Myopia (GEM) study from Australia. A total of 830 individuals were used for the analysis including 157 keratoconic and 673 non keratoconic subjects. Tag single nucleotide polymorphisms (tSNPs) were chosen to encompass the hepatocyte growth factor gene as well as 2 kb upstream of the start codon through to 2 kb downstream of the stop codon. Logistic and linear regression including age and gender as covariates were applied in statistical analysis with subsequent Bonferroni correction. Ten tSNPs were genotyped. Following statistical analysis and multiple testing correction, a statistically significant association was found for the tSNP rs2286194 {p = 1.1×10-(3) Odds Ratio 0.52, 95% CI--0.35, 0.77} for keratoconus. No association was found between the 10 tSNPs and corneal curvature. These findings provide additional evidence of significant association of the HGF gene with Keratoconus. This association does not appear to act through the corneal curvature route.