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Pseudoautosomal Region (PAR)

Definition
AI-generated

Pseudoautosomal regions are homologous intervals shared between the X and Y chromosomes that still undergo recombination in male meiosis.

Topics
Core genetics
Plural
PARs
Related
Sex Linked Hemizygous Recombination

Why it matters in GWAS

PAR handling affects genotype coding, imputation, and association modeling in sex-aware analyses. Misclassifying PAR variants as non-recombining X-linked markers can create allele-frequency mismatches, Hardy-Weinberg artifacts, and biased effect estimates.

Example usage

"We analyzed PAR and non-PAR X-chromosome variants separately to avoid sex-specific coding artifacts."

Sex Linked Hemizygous Recombination Chromosome
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References

  • Wise AL, et al. (2013). eXclusion: toward integrating the X chromosome in genome-wide association analyses. American Journal of Human Genetics, 92(5), 643-647.
  • Gomes NL, et al. (2022). The pseudoautosomal regions of the human sex chromosomes. Genes, 13(2), 277.
← Pseudoalignment Pseudoautosomal Regions (PARs) →

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