Fig. 1
Identification of GBA1 as an osteoporosis risk gene. A The study design overview presented here aims to investigate the relationship between the target gene and T-score from TWB. The pathway was designed based on the target gene summary statistics for T-score and a cosmopolitan linkage disequilibrium (LD) (Asian populations). The results from the cohorts were analyzed, using a Bonferroni-corrected P value threshold (0.05/17 = 2.94 × 10−3, where 17 is the number of analyzed GBA1 alleles). B LocusZoom plots of GBA1 gene (genotype and osteoporosis association, n = 64,107). The Y axis shows − log10(P) of association tests from GBA1 gene. Highlighted variant is rs11264345 with top priority score with top association. C Manhattan plot of the PheWAS of pLOF variants in GBA1 in TWB. The X axis displays phenotypes ordered by their P value within each disease group. The Y axis shows the strength of association, represented by the − log10(P) value, which was calculated using linear regression in the PheWAS model. The red line represents P = 0.05, while the red line represents Bonferroni's adjusted P = 0.05. TWB Taiwan BioBank, LD linkage disequilibrium, DXA dual-energy X-ray absorptiometry, PheWAS Phenome-wide association studies