Clarifying the role of ATOH7 in glaucoma endophenotypes.
OBJECTIVE
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.


METHODS
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.
UCL Institute of Ophthalmology, , London, UK.
Cristina
C
Venturini
Abhishek
A
Nag
Pirro G
PG
Hysi
Jie Jin
JJ
Wang
Tien Y
TY
Wong
Paul R
PR
Healey
Paul
P
Mitchell
Christopher J
CJ
Hammond
Ananth C
AC
Viswanathan
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D058068:Endophenotypes; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009898:Optic Disk / Q000473:pathology*; D009901:Optic Nerve Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014065:Tonometry, Ocular; D055815:Young Adult
D051792:Basic Helix-Loop-Helix Proteins; C456975:ATOH7 protein, human