Analysis of ASB10 variants in open angle glaucoma.
Glaucoma is a common cause of visual disability and affects ∼1.6% of individuals over 40 years of age (  1). Non-synonymous coding sequence variations in the ankyrin repeat and SOCS box containing gene 10 (ASB10) were recently associated with 6.0% of cases of primary open angle glaucoma (POAG) in patients from Oregon and Germany. We tested a cohort of POAG patients (n= 158) and normal control subjects (n= 82), both from Iowa, for ASB10 mutations. Our study had 80% power to detect a 4.9% mutation frequency in POAG patients. A total of 11 non-synonymous coding sequence mutations were detected in the cohort, but no association with POAG was detected when analyzed individually or as a group (P > 0.05). Furthermore, a survey of the National Heart, Lung, and Blood Institute's (NHLBI's) Exome Sequencing Project revealed that non-synonymous ASB10 mutations are present in the general population at a far higher frequency than the prevalence of POAG. These data suggest that non-synonymous mutations in ASB10 do not cause Mendelian forms of POAG.
Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. john-fingert@uiowa.edu
John H
JH
Fingert
Ben R
BR
Roos
Frances
F
Solivan-Timpe
Kathy A
KA
Miller
Thomas A
TA
Oetting
Kai
K
Wang
Young H
YH
Kwon
Todd E
TE
Scheetz
Edwin M
EM
Stone
Wallace L M
WL
Alward
D015331:Cohort Studies; D005858:Germany; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure / Q000235:genetics; D007484:Iowa; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009922:Oregon; D050826:Suppressor of Cytokine Signaling Proteins / Q000235:genetics*
C574092:ASB10 protein, human; D050826:Suppressor of Cytokine Signaling Proteins