Fig. 2: Common TYR variants form haplotypes that affect risk of albinism and visual performance. | Nature Communications

Fig. 2: Common TYR variants form haplotypes that affect risk of albinism and visual performance.

From: The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

Fig. 2

a The TYR haplotypes that were studied are shown. The reference allele of the TYR c.−301C>T [rs4547091] promoter variant is associated with lower gene expression and is shown as C (↓); the non-reference allele is associated with higher gene expression and is shown as T (↑). The reference alleles of the c.575C>A (p.Ser192Tyr) [rs1042602] and the c.1205G>A (p.Arg402Gln) [rs1126809] missense variants are highlighted in green font while the non-reference alleles are highlighted in red font. As no homozygotes for the TYR [−301T;575A;1205A] and [−301T;575A;1205 G] haplotypes were detected, these combinations are highlighted in grey font. b Risk of albinism (i.e. probability of receiving a diagnosis of albinism) for groups of individuals that carry selected TYR haplotypes in homozygous state. The length of each bar chart is proportionate to the value of the point estimate of each odds ratio; the relevant 95% confidence intervals are also shown. A log10 scale with 1 as the reference point is used; it is noted that an odds ratio >1 suggests an increased risk while an odds ratio <1 suggests a decreased risk. Further information including numerical data can be found in Supplementary Table 2. c Distribution of visual acuity measurements in UK Biobank participants carrying selected TYR haplotypes in homozygous state. Vision near 0.0 LogMAR is considered normal while vision >0.5 LogMAR is considered moderate/severe visual impairment. The Kruskal-Wallis p value was 8 × 10−11. Further information including numerical data can be found in Supplementary Table 4.

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