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Poster Session C

Systemic lupus erythematosus (SLE)

Session: (2257–2325) SLE – Diagnosis, Manifestations, & Outcomes Poster III

2318: The Association Between Systemic Lupus Erythematosus (SLE) and Bone Mineral Density (BMD) Polygenic Risk Scores with Lumbar Spine BMD Z-score: A Retrospective Cohort Study

Tuesday, November 14, 2023
9:00 AM - 11:00 AM PT
Location: Poster Hall
On Demand In Person

    Abstract Poster Presenter(s)

  • Linda Hiraki, MD, FRCPC, ScD

    The Hospital for Sick Children
    Toronto, ON, Canada

    Disclosure(s): No financial relationships with ineligible companies to disclose

Vrati Mehra1, Daniela Dominguez2, Nicholas Gold2, Andrea Knight2, Deborah Levy2, Fangming Liao2, Eleanor Pullenayegum2, Amer Shammas2, etienne Sochett2, Reza vali2, Declan Webber3, Earl Silverman4 and Linda Hiraki2, 1The Hospital for Sick Children & University of Toronto, Toronto, ON, Canada, 2The Hospital for Sick Children, Toronto, ON, Canada, 3University of Toronto, Mississauga, ON, Canada, 4Silverman, Toronto, ON, Canada

Background/Purpose: Childhood-onset systemic lupus erythematosus patients < 18 years (cSLE) are at risk for reduced bone mineral density (BMD) due to disease activity and chronic glucocorticoid exposure. Genetics play a role in SLE susceptibility. Our aim was to assess the genetic contribution to BMD among a multi-ethnic cSLE cohort.

Methods: All patients were diagnosed and followed at the SickKids and had baseline Lumbar Spine (LS) BMD scan, defined as 1 month prior, or up to one year post cSLE diagnosis. The main outcome of interest was LS (L1-L4) BMD z scores. Two weighted polygenic risk scores (PRSs)- 1) BMD PRS 2) SLE PRS were calculated based on largest GWASs to date. Both PRSs were regressed with BMD z-scores in linear models adjusted for demographics, glucocorticoid exposure, height percentile, BMI, and an indicator for lupus nephritis and/or neuropsychiatric lupus.

Results: The study included 284 patients, 82% female, 29% of European, and 28% of East Asian ancestry. The median age of cSLE diagnosis was 13.5 years [IQR 11.1, 15.3]. In multivariate model, a higher BMD PRS was significantly associated with low BMD z-score (β: -0.75; 95%CI: -1.32, -0.18; P=0.01) as was prior steroids use (β: -0.34; 95%CI: -0.63, -0.04; P=0.02). No association was found between SLE PRS and LS BMD z-scores. Height percentile and BMI were significantly associated with BMD z-score, however presence of LN and/or NPSLE was not.

Conclusion: High BMD PRS was significantly associated with lower LS BMD z-score in cSLE patients at baseline. BMD PRS may be an effective tool to stratify cSLE patients.


V. Mehra: None; D. Dominguez: None; N. Gold: None; A. Knight: Pfizer, 6; D. Levy: None; F. Liao: None; E. Pullenayegum: None; A. Shammas: None; e. Sochett: None; R. vali: None; D. Webber: None; E. Silverman: None; L. Hiraki: None.