Lupus & antiphospholipid syndrome

Genetics of osteonecrosis in children and adults with systemic lupus erythematosus

Rheumatology (Oxford)Published Genome-wide association study

Authors' conclusion

We identified an intronic WIPF1 variant associated with a 3.2 times increased hazard for ON (95% CI: 2.2, 4.8; P = 1.0 × 10-8) during SLE follow-up, independent of corticosteroid exposure.

Study context

Population
People with SLE (childhood-onset and adult-onset) from two tertiary care centres, genotyped on a multiethnic array56% cSLE
Participants
940 people
Outcome
Symptomatic osteonecrosis (ON) confirmed by imaging
Methodological detailsmeta-GWAS of cSLE and aSLE, time-to-ON and logistic regression, two tertiary care centres, inverse-variance weighting, Median follow-up 8.0 years (IQR: 4.2, 15.7)
  • meta-GWAS of cSLE and aSLE
  • time-to-ON and logistic regression
  • Two tertiary care centres
  • Inverse-variance weighting
  • Median follow-up 8.0 years (IQR: 4.2, 15.7)

Main finding

As reported in the abstract

Time-to-ON, Chr.2 SNP rs34118383 (MAF 0.18), intronic to WIPF1

HR for osteonecrosis (ON), rs34118383 (WIPF1)

3.2

95% CI 2.2, 4.8P = 1.0 × 10-8

Further findings

ON prevalence

ON present
7.6% (n = 71)

Effect of SNP on time-to-ON in cSLE vs aSLE

Similar in cSLE and aSLE

Original publication

Genetics of osteonecrosis in children and adults with systemic lupus erythematosus. Rheumatology (Oxford). Published 18 January 2023. doi:10.1093/rheumatology/kead016

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