title: Association of the hepatocyte growth factor gene with keratoconus in an Australian population.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Centre for Eye Research Australia, Melbourne, Australia ; The University of Melbourne, Melbourne, Australia.
authors.forename: Srujana
authors.initials: S
authors.lastname: Sahebjada
authors.affiliation: Centre for Eye Research Australia, Melbourne, Australia.
authors.forename: Maria
authors.initials: M
authors.lastname: Schache
authors.affiliation: Centre for Eye Research Australia, Melbourne, Australia.
authors.forename: Andrea J
authors.initials: AJ
authors.lastname: Richardson
authors.affiliation: Centre for Eye Research Australia, Melbourne, Australia ; Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
authors.forename: Grant
authors.initials: G
authors.lastname: Snibson
authors.affiliation: Centre for Eye Research Australia, Melbourne, Australia.
authors.forename: Mark
authors.initials: M
authors.lastname: Daniell
authors.affiliation: Centre for Eye Research Australia, Melbourne, Australia.
authors.forename: Paul N
authors.initials: PN
authors.lastname: Baird
mesh_terms: D000328:Adult; D001315:Australia; D015331:Cohort Studies; D003198:Computer Simulation; D019781:Corneal Topography; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D017228:Hepatocyte Growth Factor / Q000235:genetics*; D006801:Humans; D007640:Keratoconus / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: C066855:HGF protein, human; D017228:Hepatocyte Growth Factor