Genetic risk factors for thrombosis in systemic lupus erythematosus

Rachel Kaiser1, Yonghong Li, Monica Chang

  • 1UCSF Division of Rheumatology, San Francisco, CA 94143, USA.

Insights

Genetic variants in Factor V Leiden, MTHFR, and FGG are associated with thrombosis risk in systemic lupus erythematosus (SLE) patients. These genetic associations for thrombosis differ across ethnic groups.

Area of Science:

  • Genetics
  • Rheumatology
  • Vascular Medicine

Background:

  • Thrombosis is a significant complication in systemic lupus erythematosus (SLE).
  • Understanding the genetic underpinnings of thrombosis in SLE is crucial for risk stratification.

Purpose of the Study:

  • To investigate the association between genetic variants in thrombosis pathways and the occurrence of thrombosis in two ethnically diverse SLE cohorts.
  • To identify specific genetic risk factors for thrombosis in patients with SLE.

Main Methods:

  • Utilized discovery (n=1698) and replication (n=1361) SLE cohorts meeting American College of Rheumatology criteria.
  • Genotyped 33 single nucleotide polymorphisms (SNPs) associated with thrombosis risk or pathways.
  • Performed bivariate and multivariable logistic regression analyses, adjusting for clinical factors.

Main Results:

  • Factor V Leiden (FVL) rs6025 and methylenetetrahydrofolate reductase (MTHFR) rs1801133 showed associations with thrombosis risk in white SLE patients.
  • Fibrinogen gamma (FGG) rs2066865 was associated with thrombosis risk in Hispanic American SLE patients.
  • Specific SNPs in FVL, MTHFR, and FGG demonstrated associations with venous and arterial thrombosis risk, varying by ethnicity.

Conclusions:

  • Specific genetic risk factors are implicated in thrombosis development among SLE patients.
  • The genetic predisposition to thrombosis in SLE appears to differ across ethnic populations.
Abstract

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