HypertensionResearch article

Sex-specific genetic architecture of blood pressure

Nat MedPublished

  • Genome-wide association study
  • sex-stratified and combined-sex

Authors' conclusion

These findings suggest potentially clinically significant and BP sex-specific pleiotropic effects on cardiovascular diseases.

Study context

Population
UK Biobank participants
Comparison
Female vs male genetic associations with blood pressure (BP) traits
Outcome
BP trait-associated loci (sex-specific and combined-sex)

Main finding

As reported in the abstract

BP trait-associated loci

Previously reported BP loci identified

1,346

New BP loci identified

29

Female-specific loci (Pfemale ≤ 5 × 10-8; Pmale > 5 × 10-8)

412

Male-specific loci (Pmale ≤ 5 × 10-8; Pfemale > 5 × 10-8)

142

Further findings

Gene-by-sex interactions and sexually dimorphic effects

Genomic regions with female-specific associations with DBP or pulse pressure, incl. chromosome 13q34-COL4A1/COL4A2
4

Female-specific pulse pressure loci

Enriched H3K27 acetylation in arterial tissues and female-specific association with fibromuscular dysplasia; colocalization at Chr13q34 COL4A1/COL4A2, Chr9p21 CDKN2B-AS1, Chr4q32.1 MAP9

Sex-specific and sex-biased polygenic associations of BP traits

Associated with multiple CV traits

Original publication

Sex-specific genetic architecture of blood pressure. Nat Med. Published 8 March 2024. doi:10.1038/s41591-024-02858-2

Summarised from the published abstract; every number is checked against it