Fig. 3: R eplication studies in the UK Biobank cohort.
From: The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism
The combination of the TYR:c.1205āGā>āA (p.Arg402Gln) and OCA2:c.1327āGā>āA (p.Val443Ile) variants in a dual heterozygous state is associated with (a) a higher probability of receiving an albinism diagnosis (i.e. a higher risk of albinism), (b) lower visual acuity and (c) increased central retinal thickness in UK Biobank participants.Ā The following genotype groups were studied: (i) group A (reference group): homozygous for TYR:c.1205ā= and OCA2:c.1327ā=; (ii) group B (single TYR heterozygote group): heterozygous for TYR:c.1205āGā>āA and homozygous for OCA2:c.1327ā=; (iii) group C (single OCA2 heterozygote group): homozygous for TYR:c.1205āGā= and heterozygous for OCA2:c.1327āGā>āA; group D (dual heterozygote group): heterozygous for the TYR:c.1205āGā>āA and OCA2:c.1327āGā>āA variant combination. In (3a), a log10 scale is used. The circle in the middle of each horizontal line (95% confidence interval) represents the point estimate of each odds ratio. In (3b and c), the bounds of each rectangular box correspond to the upper and lower quartile, representing the interquartile range and showing where the central 50% of the data lies. The vertical line inside each box denotes the median value. The edges of the whiskers extending from each box correspond to the most extreme data points (that are not considered outliers). It is noted that individuals with albinism tend to have reduced visual acuity (i.e. higher LogMAR value than 0.2) and increased central retinal thickness (due to underdevelopment of the fovea). More details on the utilised approach can be found in the Methods and in Supplementary Fig.Ā 2. Further information, including numerical data, can be found in Supplementary TablesĀ 3ā6.
