The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

ABSTRACT: Although rare genetic conditions are mostly caused by DNA sequence alterations that functionally disrupt individual genes, large-scale studies using genome sequencing have started to unmask additional complexity. Understanding how combinations of variants in different genes shape human phenotypes is expected to provide important insights into the clinical and genetic heterogeneity of rare disorders. Here, we use albinism, an archetypal rare condition associated with hypopigmentation, as an exemplar for the study of genetic interactions. We analyse data from the Genomics England 100,000 Genomes Project alongside a cohort of 1120 individuals with albinism, and investigate the effect of dual heterozygosity for the combination of two established albinism-related variants: TYR:c.1205 G > A (p.A

SUBMITTER: Green DJ 

PROVIDER: S-EPMC11443028 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature