2018 Primary open-angle glaucoma (POAG) GWAS results in the Biobank Japan project


These files were the results of GWAS for POAG in the Biobank Japan project released via National Bioscience Database Center (NBDC).

Uploaded file:

File name Number of cases Number of controls Number of variants
2018_POAG_BBJ_autosome.txt.gz 3,980 18,815 5,961,428
Male_2018_POAG_BBJ_Xchromosome.txt.gz 1,997 7,817 147,351
Female_2018_POAG_BBJ_Xchromosome.txt.gz 1,983 10,998 147,353

In the uploaded files, variants with |beta| > 4 were excluded.


Number of column column description
1 SNP marker name
2 CHR chromosome
3 POS position (hg19)
4 REF reference allele
5 ALT alternative allele
6 Case_frq alternative allele frequency in cases
7 Ctrl_frq alternative allele frequency in controls
8 Rsq imputation quality
9 BETA beta
10 OR odds ratio
11 SE standard error
12 P P-value

・ Alternative alleles were used as effect alleles.
・ Association analysis was performed using mach2dat software (Li Y. et al, Genet. Epidemiol. 2010).


The biobank Japan project
National Bioscience Database Center Human Database
RIKEN Center for Integrative Medical Sciences


If you use these date, please cite the following paper:
Shiga Y et al. Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.
Hum. Mol. Genet. (2018). DOI: 10.1093/hmg/ddy053