Objective <p>Familial Mediterranean Fever (FMF) is the most prevalent monogenic autoinflammatory disorder. In the present study, we investigated whether HLA-B polymorphisms contribute to familial Mediterranean fever (FMF) susceptibility and phenotypic variability.</p> Methods <p>We enrolled 50 familial Mediterranean fever (FMF) patients, 40 asymptomatic Mediterranean FeVer (MEFV) mutation carriers, and 50 healthy controls. HLA-B genotypes were determined by the PCR-SSO technique. Allele frequencies were compared using chi-square or Fisher’s exact tests.</p> Results <p>HLA-B*51 and HLA-B*35 alleles were enriched among FMF patients compared with controls (<i>p</i> = 0.01 and <i>p</i> = 0.03, respectively). HLA-B*27 was moderately increased in patients (<i>p</i> = 0.04), while HLA-B*44 tended to be more common in carriers (<i>p</i> = 0.07). Odds ratio (OR) and confidence interval (CI) analyses indicated an elevated FMF risk for carriers of HLA-B*51 and HLA-B*35.</p> Conclusion <p>HLA-B variants, particularly B*51 and B*35, may act as immunogenetic modifiers of FMF, supporting the concept of MHC class I linked inflammatory pathways contributing to disease heterogeneity.</p>

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Association of HLA-B alleles with familial mediterranean fever (FMF): A comparative study

  • Utku Aksu,
  • Pınar Aksu Kılıçle,
  • Sevim Gönen

摘要

Objective

Familial Mediterranean Fever (FMF) is the most prevalent monogenic autoinflammatory disorder. In the present study, we investigated whether HLA-B polymorphisms contribute to familial Mediterranean fever (FMF) susceptibility and phenotypic variability.

Methods

We enrolled 50 familial Mediterranean fever (FMF) patients, 40 asymptomatic Mediterranean FeVer (MEFV) mutation carriers, and 50 healthy controls. HLA-B genotypes were determined by the PCR-SSO technique. Allele frequencies were compared using chi-square or Fisher’s exact tests.

Results

HLA-B*51 and HLA-B*35 alleles were enriched among FMF patients compared with controls (p = 0.01 and p = 0.03, respectively). HLA-B*27 was moderately increased in patients (p = 0.04), while HLA-B*44 tended to be more common in carriers (p = 0.07). Odds ratio (OR) and confidence interval (CI) analyses indicated an elevated FMF risk for carriers of HLA-B*51 and HLA-B*35.

Conclusion

HLA-B variants, particularly B*51 and B*35, may act as immunogenetic modifiers of FMF, supporting the concept of MHC class I linked inflammatory pathways contributing to disease heterogeneity.