Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.
Duke Scholars
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Related Subject Headings
- Repressor Proteins
- Protein D-Aspartate-L-Isoaspartate Methyltransferase
- Principal Component Analysis
- Polymorphism, Single Nucleotide
- Logistic Models
- Humans
- Glaucoma, Angle-Closure
- Genome-Wide Association Study
- Genetic Predisposition to Disease
- Genetic Loci
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Repressor Proteins
- Protein D-Aspartate-L-Isoaspartate Methyltransferase
- Principal Component Analysis
- Polymorphism, Single Nucleotide
- Logistic Models
- Humans
- Glaucoma, Angle-Closure
- Genome-Wide Association Study
- Genetic Predisposition to Disease
- Genetic Loci