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KIR3DL1/S1 Allotypes Contribute Differentially to the Development of Behçet Disease

Harry Petrushkin1,2, Paul J Norman3, Emma Lougee4

  • 1Moorfields Eye Hospital National Health Service Foundation Trust, Medical Retina Department, London EC1V 2PD, United Kingdom.

Journal of Immunology (Baltimore, Md. : 1950)
|August 14, 2019
PubMed

Insights

This study identifies specific KIR3DL1/S1 gene variants that influence Behçet disease risk and severity. Certain KIR3DL1/S1 alleles increase the likelihood of developing Behçet disease and eye complications, while others offer protection.

Area of Science:

  • Immunogenetics
  • Autoinflammatory Diseases
  • Human Genetics

Background:

  • Behçet disease is a chronic autoinflammatory syndrome with a known association with the HLA-B*51 gene.
  • The role of killer cell immunoglobulin-like receptors (KIRs) in Behçet disease pathogenesis remains incompletely understood.

Purpose of the Study:

  • To investigate the association between KIR3DL1/S1 allelic variations and Behçet disease risk in a UK cohort.
  • To explore the influence of these KIR variants on disease phenotype, specifically mucocutaneous and ophthalmic manifestations.

Main Methods:

  • Analysis of a UK cohort comprising 267 Behçet disease patients and 445 healthy controls.
  • HLA-B*51 genotyping and KIR3DL1/S1 allele-level analysis were performed.
  • Statistical analysis, including Bonferroni-Dunn correction, was used to determine significance.

Main Results:

  • HLA-B*51 was confirmed as a significant genetic risk factor for Behçet disease (Pc=0.0192, OR=1.92).
  • Low-expressing KIR3DL1/S1 alleles combined with KIR3DS1 increased Behçet disease risk (Pc=0.0040, OR=2.47) and ophthalmic disease risk (P=1.2 × 10⁻⁵, OR=3.92).
  • High-expressing KIR3DL1/S1 alleles with null KIR3DL1 reduced disease risk (Pc=0.0350, OR=0.53) and the risk of purely mucocutaneous disease (P=0.0048, OR=0.45).

Conclusions:

  • KIR3DL1/S1 allelic variation significantly impacts Behçet disease susceptibility and clinical presentation.
  • The interaction between HLA-B*51 and KIR3DL1/S1 genotypes may play a crucial role in Behçet disease pathogenesis.
  • These findings offer novel insights into the genetic underpinnings of Behçet disease and its diverse manifestations.

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