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Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma
Shazia Micheal1, Humaira Ayub1,2, Farrah Islam3
1Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
Plos One
|December 30, 2015
Summary
Ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) gene variants are linked to primary open angle glaucoma (POAG) in Pakistani individuals. This study found ASB10 variants significantly associated with sporadic POAG, suggesting a potential risk factor.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Nonsynonymous variants in the ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) gene have been previously associated with primary open angle glaucoma (POAG).
- Conflicting results from independent cohorts highlight the need for further investigation into the role of ASB10 variants in diverse populations.
Purpose of the Study:
- To investigate the association of ASB10 gene variants with POAG in a Pakistani cohort.
- To determine if ASB10 variants contribute to glaucoma risk in this specific population.
Main Methods:
- Sanger sequencing of ASB10 coding exons and splice junctions in Pakistani POAG patients and healthy controls.
- Genotypic association analysis using Fisher's exact or Chi-square tests to evaluate variant significance.
Main Results:
- Twenty-four ASB10 variants were identified, including 11 novel and 13 known variants.
- A nonsynonymous variant (p.Arg453Cys) and a synonymous variant (p.Ala290Ala) showed significant association with sporadic POAG.
- A higher cumulative burden of rare, nonsynonymous ASB10 variants was observed in sporadic POAG patients compared to controls.
Conclusions:
- ASB10 gene variants are significantly associated with sporadic POAG in the Pakistani population.
- These findings support the hypothesis that ASB10 sequence variants may confer an increased risk for glaucoma.
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