title: Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study cohort.
abstract: OBJECTIVE
  Myopia is a common complex condition influenced by genetic and environmental factors. Two recent genome-wide association studies have identified loci on chromosomes 15q25 and 15q14 associated with refractive error in Caucasian populations. Our study aimed to assess the association of these 2 loci with refractive error and ocular biometric measures in an independent ethnically matched Caucasian cohort.
  
  
  METHODS
  Genetic association study using unrelated individuals.
  
  
  METHODS
  Blue Mountains Eye Study (BMES) cohort. A total of 1571 individuals were included in this study.
  
  
  METHODS
  Single nucleotide polymorphism (SNP) genotype data were collected from the BMES cohort as part of the Wellcome Trust Case Control Consortium 2. Imputation was performed using MACH version 1.1.16, and statistical analysis was conducted using PLINK. Association tests were performed at both loci using refractive error (spherical equivalent), axial length, corneal curvature, and anterior chamber depth as the phenotypes.
  
  
  METHODS
  Refractive error, axial length, corneal curvature, and anterior chamber depth.
  
  
  RESULTS
  A total of 1571 individuals were available from the BMES for analysis. A statistically significant association for refractive error was evident for SNPs at the 15q14 locus, with P values ranging from 1.5 × 10(-2) at rs685352 to 6.4 × 10(-4) at rs560764, whereas association could not be confirmed for SNPs at the 15q25 locus, with P values ranging from 8.0 × 10(-1) to 6.4 × 10(-1). Ocular biometric analysis revealed that axial length was the most likely trait underlying the refractive error association at the 15q14 locus for SNPs rs560766 (P=0.0054), rs634990 (P=0.0086), and rs8032019 (P=0.0081).
  
  
  CONCLUSIONS
  Our results confirm the association with refractive error at the 15q14 locus but do not support the association observed at the 15q25 locus. Axial length seemed to be a major parameter at the 15q14 locus, underscoring the importance of this locus in myopia and future clinical treatment.
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia. mschache@unimelb.edu.au
authors.forename: Maria
authors.initials: M
authors.lastname: Schache
authors.forename: Andrea J
authors.initials: AJ
authors.lastname: Richardson
authors.forename: Paul
authors.initials: P
authors.lastname: Mitchell
authors.forename: Jie Jin
authors.initials: JJ
authors.lastname: Wang
authors.forename: Elena
authors.initials: E
authors.lastname: Rochtchina
authors.forename: Ananth C
authors.initials: AC
authors.lastname: Viswanathan
authors.forename: Tien Y
authors.initials: TY
authors.lastname: Wong
authors.forename: Seang Mei
authors.initials: SM
authors.lastname: Saw
authors.forename: Fotis
authors.initials: F
authors.lastname: Topouzis
authors.forename: Jing
authors.initials: J
authors.lastname: Xie
authors.forename: Xueling
authors.initials: X
authors.lastname: Sim
authors.forename: Elizabeth G
authors.initials: EG
authors.lastname: Holliday
authors.forename: John
authors.initials: J
authors.lastname: Attia
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.forename: Paul N
authors.initials: PN
authors.lastname: Baird
mesh_terms: D000368:Aged; D058452:Axial Length, Eye / Q000473:pathology*; D001699:Biometry; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D009216:Myopia / Q000453:epidemiology / Q000235:genetics*; D009517:New South Wales / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D044465:White People