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Analysis of ASB10 variants in open angle glaucoma
Journal article   Open access   Peer reviewed

Analysis of ASB10 variants in open angle glaucoma

John H Fingert, Ben R Roos, Frances Solivan-Timpe, Kathy A Miller, Thomas A Oetting, Kai Wang, Young H Kwon, Todd E Scheetz, Edwin M Stone and Wallace L M Alward
Human molecular genetics, Vol.21(20), pp.4543-4548
10/15/2012
DOI: 10.1093/hmg/dds288
PMCID: PMC3459468
PMID: 22798626
url
https://doi.org/10.1093/hmg/dds288View
Published (Version of record) Open Access

Abstract

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.
 Mutation Germany Oregon Iowa Intraocular Pressure - genetics Glaucoma, Open-Angle - genetics Humans Middle Aged Suppressor of Cytokine Signaling Proteins - genetics Male Cohort Studies

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