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IL13RA2 gene polymorphisms are associated with systemic sclerosis.

Brigitte Granel1, Yannick Allanore, Christophe Chevillard

  • 1Laboratoire d'Immunologie et de Génétique des Maladies Parasitaires, Université de la Méditerranée - Faculté de Médecine de La Timone, 27 boulevard Jean Moulin, 13385 Marseille Cedex 05, France. brigitte.granel@medecine.univ-mrs.fr

The Journal of Rheumatology
|September 19, 2006
PubMed
Summary

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This summary is machine-generated.

Genetic variations in the IL13RA2 gene are associated with systemic sclerosis (SSc) susceptibility, particularly in Caucasian women. Specific single nucleotide polymorphisms (SNPs) in IL13RA2 may influence the risk and expression of SSc, especially its diffuse cutaneous form.

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Human Genetics

Background:

  • Systemic sclerosis (SSc) is a complex autoimmune disease with a significant female predominance.
  • Genetic factors are implicated in SSc pathogenesis, but specific gene associations remain incompletely understood.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the IL13RA1 and IL13RA2 genes and the risk of developing SSc.
  • To explore potential links between these genetic variations and the phenotypic expression of SSc, including its diffuse cutaneous (dcSSc) and limited cutaneous (lcSSc) forms.

Main Methods:

  • Genotyping of 7 single nucleotide polymorphisms (SNPs) in IL13RA1 and IL13RA2 genes in 97 Caucasian women with SSc and 109 healthy Caucasian female controls.
  • Analysis focused on women due to the higher prevalence of SSc in females and the X-chromosome location of the studied genes.

Related Experiment Videos

  • SNP analysis was performed using polymerase chain reaction (PCR) followed by enzymatic digestion or primer extension and denaturing high-performance liquid chromatography (DHPLC).

    • Main Results:

    • A significant association was found between the IL13RA2 rs638376 SNP and SSc susceptibility (p = 0.004, OR = 1.85), and specifically with the diffuse cutaneous form (dcSSc) (p = 0.01, OR = 2.22).
    • The G allele of IL13RA2 rs638376 was more frequent in SSc patients (51.6%) and dcSSc patients (57.6%) compared to controls (36.4%).
    • Another IL13RA2 SNP, rs5946040, showed an association with dcSSc, with the G allele being more prevalent in patients (33.8%) than controls (17%).

    Conclusions:

    • Polymorphisms in the IL13RA2 gene may contribute to the susceptibility to developing systemic sclerosis.
    • These findings suggest IL13RA2 as a potential genetic factor influencing SSc risk, particularly in the diffuse cutaneous subtype.
    • Further research is warranted to elucidate the precise role of IL13RA2 gene variants in SSc pathogenesis.