RT Journal Article SR Electronic T1 Clarifying the role of ATOH7 in glaucoma endophenotypes JF British Journal of Ophthalmology JO Br J Ophthalmol FD BMJ Publishing Group Ltd. SP 562 OP 566 DO 10.1136/bjophthalmol-2013-304080 VO 98 IS 4 A1 Cristina Venturini A1 Abhishek Nag A1 Pirro G Hysi A1 Jie Jin Wang A1 Tien Y Wong A1 Paul R Healey A1 Paul Mitchell A1 Christopher J Hammond A1 Ananth C Viswanathan A1 Wellcome Trust Case Control Consortium 2, BMES GWAS Group YR 2014 UL http://bjo.bmj.com/content/98/4/562.abstract AB Background/aims The ATOH7 gene has been previously associated with glaucoma and glaucoma-related traits, such as disc size and cup/disc ratio (CDR). CDR is an important part of the glaucoma phenotype, whereas the relationship between the disc size and the disease is not well understood. The aim of this study was to investigate whether ATOH7 is associated independently with CDR or merely with the size of the optic disc. Method We carried out an association analysis for a candidate region, including ATOH7 for two populations: the Blue Mountains Eye Study and the TwinsUK cohort. We performed three linear regression models for (1) disc size adjusted on age, sex and intraocular pressure (IOP), (2) CDR adjusted on age, sex and IOP and (3) CDR adjusted on age, sex, IOP and disc size. Results A strong signal was found at rs7916697 for disc size. This single nucleotide polymorphism (SNP) was also associated with CDR adjusted on age, sex and IOP. However, this SNP was not associated with CDR when adjusted on age, sex, IOP and also disc size. Conclusions This study finds that ATOH7 is associated with optic disc size but not independently with CDR.