Analysis of ASB10 variants in open angle glaucoma.
Hum Mol Genet
; 21(20): 4543-8, 2012 Oct 15.
Article
em En
| MEDLINE
| ID: mdl-22798626
ABSTRACT
Glaucoma is a common cause of visual disability and affects â¼1.6% 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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Glaucoma de Ângulo Aberto
/
Proteínas Supressoras da Sinalização de Citocina
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Humans
/
Male
/
Middle aged
País como assunto:
America do norte
/
Europa
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article