Role of X chromosome and dosage-compensation mechanisms in complex trait genetics.

ABSTRACT: The X chromosome (chrX) is often excluded from genome-wide association studies due to its unique biology complicating the analysis and interpretation of genetic data. Consequently, the influence of chrX on human complex traits remains debated. Here, we systematically assessed the relevance of chrX and the effect of its biology on complex traits by analyzing 48 quantitative traits in 343,695 individuals in UK Biobank with replication in 412,181 individuals from FinnGen. We show that, in the general population, chrX contributes to complex trait heritability at a rate of 3% of the autosomal heritability, consistent with the amount of genetic variation observed in chrX. We find that a pronounced male bias in chrX heritability supports the presence of near-complete dosage compensation between s

SUBMITTER: Fu Y 

PROVIDER: S-EPMC12256796 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature