Analysis of ASB10 variants in open angle glaucoma

作者：Fingert John H^*; Roos Ben R; Solivan Timpe Frances; Miller Kathy A; Oetting Thomas A; Wang Kai; Kwon Young H; Scheetz Todd E; Stone Edwin M; Alward Wallace L M

来源：Human Molecular Genetics, 2012, 21(20): 4543-4548.

DOI：10.1093/hmg/dds288

Glaucoma is a common cause of visual disability and affects approximate to 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 Institutes (NHLBIs) 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.

• 出版日期2012-10-15