Fig. 6: Disease associations of predicted loss-of-function variants in PTPRB among UK Biobank and All of Us participants. | Nature Communications

Fig. 6: Disease associations of predicted loss-of-function variants in PTPRB among UK Biobank and All of Us participants.

From: Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma

Fig. 6: Disease associations of predicted loss-of-function variants in PTPRB among UK Biobank and All of Us participants.

The risk of ocular and vascular diseases of interest was evaluated for participants with a predicted loss-of-function (pLOF) variant in PTPRB in All of Us and UK Biobank using logistic regression among unrelated individuals. Due to lack of ophthalmological outpatient clinic data in UK Biobank participants, patients with central serous chorioretinopathy were only evaluated in All of Us. Examined diseases were selected based on the most significant associations observed for rs113791087 in FinnGen. Pulmonary embolism and deep vein thrombosis were examined separately as the major subtypes of venous thromboembolism, and primary open-angle glaucoma was examined separately as a major subtype of glaucoma. Association results from UK Biobank and All of Us were combined in an inverse variance-weighted meta-analysis. Point estimates of the odds ratios (OR) are shown with circles for each phenotype, and 95% confidence intervals (CI) are denoted with lines. All P-values are two-sided and were not adjusted for multiple comparisons.

Back to article page