ArticleMolecular vision2020
Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.
Article in Molecular vision, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
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- Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.Molecular vision · 2025Article
- Primary open-angle glaucoma risk prediction with ABCA1 and LOC102723944 variants and their genotype-phenotype correlations in southern Chinese population.Molecular genetics and genomics : MGG · 2023Article
- EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.Human mutation · 2022Article
- Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).Ophthalmology. GlaucomaArticle
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Family-based genetic linkage analysis and genome-wide association studies (GWASs) have identified many genomic loci associated with primary open-angle glaucoma (POAG). Several causative genes of POAG have been intensively analyzed by sequencing in different populations. However, few investigations have been conducted on the identification of variants of coding region in the genes identified in GWASs. Therefore, further research is needed to investigate whether they harbor pathogenically relevant rare coding variants and account for the observed association. Methods: To identify the potentially disease-relevant variants (PDVs) in POAG-associated genes in Chinese patients, we applied molecular inversion probe (MIP)-based panel sequencing to analyze 26 candidate genes in 235 patients with POAG and 241 control subjects. Results: The analysis identified 82 PDVs in 66 individuals across 235 patients with POAG. By comparison, only 18 PDVs in 19 control subjects were found, indicating an enrichment of PDVs in the POAG cohort (28.1% versus 7.9%, p = 8.629e-09). Among 26 candidate genes, the prevalence rate of PDVs in five genes showed a statistically significant difference between patients and controls (33 out of 235 versus 1 out of 241, p = 4.533e-10), including Conclusions: The results suggest that some of the associations identified in POAG risk loci can be ascribed to rare coding variants with likely functional effects that modify POAG risk.
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Identifiers
32476818PMC7245608W3032819318What OpenQuestion holds
Registered trials
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