Heart failure & cardiomyopathies

Identification of Clinical Drivers of Left Atrial Enlargement Through Genomics of Left Atrial Size

Circ Heart FailPublished Genetic association study

Authors' conclusion

In a clinical population, we identified, by genomic approaches, potential etiologic risk factors for larger LAD.

Study context

Population
Adults of European ancestry in the Vanderbilt deidentified electronic health record with ≥1 left atrial diameter (LAD) measure and genotyping
Participants
6,163 vs 5,993
Exposure
Females vs Males
  • Femalesn = 6,163
  • Malesn = 5,993
Outcome
Diagnoses (1680 ICD code-based phenotypes) associated with a sex-stratified polygenic score for LAD, and etiologic risk factors for LAD by Mendelian randomization
Methodological detailsphenome-wide association study and Mendelian randomization, sex-stratified, polygenic score, two-sample univariable and multivariable Mendelian randomization, EHR-based clinical cohort
  • Phenome-wide association study and Mendelian randomization
  • Sex-stratified
  • Polygenic score
  • Two-sample univariable and multivariable Mendelian randomization
  • EHR-based clinical cohort

Main finding

As reported in the abstract

ICD code-based diagnoses associated with LAD polygenic score (FDR q<0.01)
GroupAssociated diagnoses
Females25
Males11

Associated diagnoses

Females25
Males11

Observational data: associations, not effects.

Further findings

Sex-stratified genetic associations between risk factors and LAD polygenic score

Females: waist circumference
Males: HF, SBP, AF and waist circumference

Original publication

Identification of Clinical Drivers of Left Atrial Enlargement Through Genomics of Left Atrial Size. Circ Heart Fail. Published 21 December 2023. doi:10.1161/circheartfailure.123.010557

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