Expressive

rs10889681 - IL12RB2

Magnitude 2.2 · 1 study on file

Reported associations

  • Transancestral mapping and genetic load in systemic lupus erythematosus - Unknown journal (n.d.) · Unknown authors · PubMed 28714469

    ABSTRACT: Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10−8), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing res

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • Systemic lupus erythematosus serology panel Moderate

    IL12RB2 variant increases systemic lupus erythematosus risk, warranting periodic serologic evaluation

    Annual testing of antinuclear antibody (ANA), anti-double-stranded DNA, and complement levels (C3, C4)

Discuss with your doctor

  • Discuss IL12RB2 variant and SLE risk with rheumatologist Moderate

    IL12RB2 variant is associated with increased systemic lupus erythematosus risk and warrants clinical discussion of monitoring strategy

    Schedule discussion with rheumatologist to review genetic finding and establish monitoring plan

Screening

  • Systemic lupus erythematosus clinical screening Moderate

    IL12RB2 variant increases systemic lupus erythematosus risk through altered IL-12 receptor signaling

    Annual clinical review for SLE symptoms including photosensitivity, joint pain, oral ulcers, and malar rash