Atrial fibrillation GWAS results from the BioBank Japan Project (2022)

[ File names ]

BBJ_AF_2022.sumstats.gz
CROSS_ANCESTRY_AF_2022.sumstats.gz
BBJ_AF_2022.prs.gz

[ File information ]

BBJ_AF_2022.sumstats.gz
- Number of samples 150,272 (9,826 cases and 140,446 controls)
- Number of variants tested 16,817,143
- Only variants with minor allele frequency >=0.001 in the total samples (cases and contorols) were analyzed
- Effect allele = alternative allele
- Positions are based on hg19
- Association test was performed using PLINK2, a logistic regression model

CROSS_ANCESTRY_AF_2022.sumstats.gz
- Number of samples 1,244,730 (77,690 cases and 1,167,040 controls) 
- Number of variants tested 5,115,557
- Only variants with minor allele frequency >=0.01 in the total samples (cases and controls) in each cohort were analyzed
- Effect allele = alternative allele
- Positions are based on hg19
- Meta-analysis combining the Japanese AF-GWAS (9,826 cases and 140,446 controls), European AF-GWAS by Nielsen et al. (60,620 cases and 970,216 controls), and AF-GWAS by FinnGen cohort (7,244 cases and 56,378 controls) using both METAL and MANTRA softwares

BBJ_AF_2022.prs.gz
- Number of variants 4,520
- Variants selected by pruning and thresholding method
- Weight for each variant calculated from a cross-ancestry meta-analysis of a subset of BBJ samples and two European GWASs

Reference:
Nielsen, J.B. et al.: Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. Nat Genet. 2018;50:1234-1239.
FinnGen research project: https://www.finngen.fi/en

[ Column information ]

BBJ_AF_2022.sumstats.gz
CHR: Chromosome name
POS: Genomic position
REF: Reference allele
ALT: Alternative allele
AAF: Alternative allele frequency in the total samples
BETA: Effect size of alternative allele
SE: Standard error of BETA
P: P-value
N: Sample size
INFO: Estimated imputation accuracy

CROSS_ANCESTRY_AF_2022.sumstats.gz
CHR: Chromosome name
POS: Genomic position
REF: Reference allele
ALT: Alternative allele
AAF: Alternative allele frequency in the entire population
BETA: Effect size of alternative allele estimated by METAL (fixed efect)
SE: Standard error of BETA estimated by METAL (fixed eddect)
P: P-value for BETA estimated by METAL (fixed effect)
HetP: heterogeneity among studies estimated by METAL (fixed effect)
log10BF: log-transformed Bayes factor estimated by MANTRA
Hetlog10BF: heterogeneity among studies estimated by MANTRA
N: Sample size

BBJ_AF_2022.prs.gz
SNPID: Variant ID (CHR:POS:REF:ALT)
CHR: Chromosome name
POS: Genomic position
EA: Effect allele (Alternative allele)
BETA: Weight for alternative allele

If you use these date, please cite the following paper:
Miyazawa, K. Ito, K. et al. Cross-ancestry genome-wide analysis of atrial fibrillation provides insight into disease biology and enables polygenic prediction of cardioembolic risk. Nat Genet. in Press

For any enquiries about the datasets, please contact the following individuals:
Kazuo MIYAZAWA (kazuo.miyazawa@riken.jp)
Kaoru ITO (kaoru.ito@riken.jp)