Systemic sclerosis & Raynaud's

Cross-trait GWAS in COVID-19 and systemic sclerosis reveals novel genes implicated in fibrotic and inflammation pathways

Rheumatology (Oxford)Published Cross-trait genome-wide association meta-analysis

Authors' conclusion

Our study confirms the genetic resemblance between susceptibility to and severity of COVID-19 and SSc, revealing a novel common genetic contribution affecting fibrotic and immune pathways.

Study context

Population
European-ancestry cohorts from COVID-19 and SSc genomic studies>9.3 million SNPs
Participants
2,597,856 vs 26,679
Comparison
COVID-19 vs SSc
  • COVID-19n = 2,597,856
  • SScn = 26,679
Outcome
Shared genetic loci between COVID-19 and SSc
Methodological detailsEuropean-ancestry cohorts, functional annotation, drug repurposing analysis
  • European-ancestry cohorts
  • Functional annotation
  • Drug repurposing analysis

Pooled result

As reported in the abstract

Non-HLA pleiotropic loci

19

Novel associations for both conditions (BMP1 and PPARG)

2

Emerging as new shared loci

12

Antagonistic pleiotropy of IFN signalling: TYK2 P1104A protective for SSc, risk factor for COVID-19; additional novel pleiotropic associations (IRF8 and SENP7)

2

Original publication

Cross-trait GWAS in COVID-19 and systemic sclerosis reveals novel genes implicated in fibrotic and inflammation pathways. Rheumatology (Oxford). Published 29 January 2025. doi:10.1093/rheumatology/keaf028

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