Cardio-oncology & otherMeta-analysis

Variants at the Interleukin 1 Gene Locus and Pericarditis

JAMA CardiolPublished

  • Genome-wide association study meta-analysis
  • 5 countries
  • multiomic (cis-eQTL, pQTL, ASM-QTL)

Authors' conclusion

This study found an association between pericarditis and 2 independent sequence variants at the interleukin 1 gene locus.

Study context

Population
Individuals with pericarditis in Iceland, Denmark, UK, US and Finland cohortswith pericarditis
Participants
4,894 individuals
Comparison
Variants at the interleukin 1 locus and pericarditis
Outcome
Pericarditis

Pooled result

As reported in the abstract

Estimate (95% CI)P value
rs12992780 (T)lead variant, downstream of IL1B; EAF 31%-40%
OR 0.83(0.79–0.87)
P = 6.67 × 10-16
rs7575402 (A or T)secondary variant; EAF 45%-55%
adjusted OR 0.89(0.85–0.93)
adjusted P = 9.6 × 10-8

Further pooled results

rs12992780 by pericarditis subtype

OR, recurrent pericarditis
0.76
OR, acute pericarditis
0.86
  • P for heterogeneity = .03

rs7575402 and CpG methylation

Associated with CpG methylation overlapping binding sites of 4 transcription factors regulating interleukin 1 production: PU.1 (SPI1), STAT1, STAT3, C/EBPβ (CEBPB)

Original publication

Variants at the Interleukin 1 Gene Locus and Pericarditis. JAMA Cardiol. Published 1 February 2024. doi:10.1001/jamacardio.2023.4820

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