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. 2022 Oct 3;5:1051. doi: 10.1038/s42003-022-03932-6

Fig. 1. An aggregate of rare (MAF < 1%) loss-of-function and missense variants in ANGPTL7 is associated with IOP.

Fig. 1

a Association of an aggregate of 63 pLOF and deleterious (based on 5 prediction algorithms) missense variants in ANGPTL7 with reduced IOP in 129,207 individuals of European descent. b Missense and predicted loss-of-function (pLOF) variants in ANGPTL7 and IOP levels in individuals of European descent from UKB. The plots represent Goldmann-correlated IOP (IOPg; mean of both eyes) levels in carriers of 1 pLOF and 10 missense variants in ANGPTL7 that are predicted deleterious by five different algorithms and have at least five carriers amongst the 101,678 exome-sequenced individuals with IOP measurements in the UK Biobank. The median IOP level across carriers of all 49 pLOF and predicted-deleterious missense ANGPTL7 variants (14.64 mmHg) is indicated by the red line, and the median IOP in non-variant carriers (15.46 mmHg) is indicated by the blue line. Magenta diamonds mark the median IOP in carriers of each variant. Beneath the plots is the median and interquartile range (IQR) of IOP and the numbers of variant carriers diagnosed with glaucoma or controls in UKB (n = 385,040). GHS Geisinger DiscovEHR, UKB UK Biobank, MAF Minor allele frequency.