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Sex-specific analysis in Behçet's disease reveals higher genetic risk in male patients

Yun Gun Jo1, Lourdes Ortiz-Fernández1, Patrick Coit1

  • 1Division of Rheumatology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.

Journal of Autoimmunity
|August 20, 2022
PubMed

Insights

Men with Behçet's disease have a higher genetic risk, particularly in the HLA region, compared to women. These genetic factors may explain differences in disease severity between sexes.

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Behçet's disease exhibits greater severity in males.
  • Investigating sex-specific genetic factors is crucial for understanding disease heterogeneity.

Approach:

  • Genome-wide association analysis was conducted on 1762 male and 1216 female Behçet's disease patients.
  • A meta-analysis of significant findings across six populations was performed.
  • Genetic risk scores were calculated and compared between sexes.

Key Points:

  • A significant association with male sex was observed in the HLA-B/MICA region (rs2848712, P = 1.22 × 10⁻⁸).
  • Male patients showed higher genetic risk scores in HLA-B/MICA, HLA-C, and KLRC4.
  • IFNGR1 (rs4896243) conferred higher genetic risk in female patients.

Conclusions:

  • Male Behçet's disease patients exhibit elevated genetic risk compared to females, primarily linked to the HLA region.
  • Genetic predisposition may underlie observed sex differences in Behçet's disease presentation and severity.
Abstract

Keywords:
Behçet's diseaseGWASGeneticsHLA class IMHCSex-bias

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