Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.
Khor CC, Do T, Jia H et al.
Publication Details
Comprehensive information about this research publication
Authors
Abstract
Summary of the research findings
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.
5,612 East Asian ancestry cases, 12,451 East Asian ancestry controls, 337 Indian ancestry cases, 2,538 Indian ancestry controls, 576 European ancestry cases, 4,940 European ancestry controls
Study Statistics
Key metrics and study information
Analysis
Comprehensive review of health and genetic findings
Important Disclaimer: This review has been performed semi-automatically and is provided for informational purposes only. While we strive for accuracy, this analysis may contain errors, omissions, or misinterpretations of the original research. DNA Genics disclaims all liability for any inaccuracies, errors, or consequences arising from the use of this information. Users should independently verify all information and consult original research publications before making any decisions based on this content. This analysis is not intended as a substitute for professional scientific review or medical advice.
Analysis In Progress
Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.
Summary
Key Findings
Health Insights
Disease Analysis
Genetic Trait Analysis
Clinical Relevance
Scientific Assessment
Related Publications
Other publications that may be of interest
A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.
Suhre K
Nat Genet
HV102 protein level (protein group normalized intensity)
Cross-ancestry GWAS defines the extended CYP2D6 locus as the principal genetic determinant of endoxifen plasma concentrations.
Khor CC
Clin Pharmacol Ther
Endoxifen levels in tamoxifen-treated hormone-receptor-positive breast cancer
Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models.
Cosentino J
Nat Genet
Chronic obstructive pulmonary disease liability (machine learning-based score)
A genetic map of human metabolism across the allele frequency spectrum.
Zoodsma M
Nat Genet
Free cholesterol in small VLDL (PGS-adjusted)
Large-scale genome-wide analyses of stuttering.
Polikowsky HG
Nat Genet
Stuttering
Explore More Research
Discover the latest findings in health and genetic research