Human Molecular Genetics · 2012 · 22 citations · 8 references
Life SciencesGeneticsOphthalmologyHuman GeneticsMedical GeneticsOcular GeneticsGenetic DisordersGlaucomaGlaucoma EpidemiologyExome SequencingGenetic Causes Of GlaucomaGlaucoma PrevalenceHereditary Ocular DiseaseInherited Ocular DiseaseMendelian Disorder GeneticsPrimary Angle-closure GlaucomaSynonymous Mutations
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.
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Identification of a Gene That Causes Primary Open Angle Glaucoma
Edwin M. Stone, John H. Fingert, Wallace L.M. Alward et al. · Science · 1997 · 1.4K citations
Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin
Tayebeh Rezaie, Anne H. Child, Roger A. Hitchings et al. · Science · 2002 · 1.1K citations