• KOL
    • Graves Disease
    • Association Of...
    • Association of polymorphism in genes encoding κB inhibitors (IκB) with susceptibility to and phenotype of Graves' disease: a case-control study: Influence Statistics

      Expert Impact

      Concepts for whichthey havehas direct influence:Graves disease,Graves disease gd,Immune responses,Nf kappab,Snps genes,Kappab inhibitor,Disease gd,Autoimmune disorders.

      Key People For Graves Disease

      Top KOLs in the world
      #1
      Anthony Peter Weetman
      graves disease thyroid cells vitiligo patients
      #2
      Aldo Pinchera
      graves disease thyroid carcinoma breast cancer
      #3
      David S Cooper
      thyroid cancer graves disease united states
      #4
      Luigi BARTALENA,
      graves disease orbital radiotherapy radioiodine therapy
      #5
      Laszlo Hegedüs
      thyroid volume graves disease 131i therapy
      #6
      Rebecca S Bahn
      graves ophthalmopathy thyrotropin receptor thyroid association

      Association of polymorphism in genes encoding κB inhibitors (IκB) with susceptibility to and phenotype of Graves' disease: a case-control study

      Abstract

      BACKGROUND: Genes related to the nuclear factor-kappaB (NF-kappaB), a key transcription factor involved in regulation of immune responses, are interesting candidates for association studies in autoimmune disorders. The aim of this study was to investigate an association of polymorphisms in two genes encoding NF-kappaB inhibitors: IKBL (encoding inhibitor of kappaB-like) and NFKBIA (encoding kappaB inhibitor alpha), withsusceptibility to and phenotype of Graves' disease (GD).

      METHODS: A population-based, case-control association study comprising 481 patients with GD and 455 healthy controls was performed. We analyzed 3 single nucleotide polymorphisms (SNPs) in IKBL [promoter region -62T/A substitution (rs2071592), intron 1 C/T substitution (rs2071591) and exon 4 T/C substitution (rs3130062)] and 3 SNPs in NFKBIA [G/A substitution in 3' untranslated region (rs696) and two promoter region polymorphisms -297C/T (rs2233409) and -826C/T (rs2233406)] by the PCR-restriction fragment length polymorphism (RFLP) method.

      RESULTS: The two SNPs in IKBL (rs2071592 and rs2071591) were in a strong linkage disequilibrium (D' = 0.835) and the AT haplotype was associated with susceptibility to GD (p < 10-4, OR = 1.61 [95%CI:1.21-2.14]). Moreover subgroup analysis revealed a gen-gen interaction between the investigated IKBL haplotype and HLA-DRB1*03 allele (p < 10-4). The investigated NFKBIA SNPs were not associated with susceptibility to GD. However, when correlated with phenotype, the -297T (rs2233409) and -826T (rs2233406) alleles were associated with the development of clinically evident ophthalmophaty (p = 0.004, pc = 0.07, OR = 1.65 [95%CI: 1.18-2.38] and p = 0.002, pc = 0.036, OR = 1.67 [95%CI: 1.20-2.36], respectively).

      CONCLUSION: Our results suggest that SNPs in genes encoding NF-kappaB inhibitors may contribute to the development and clinical phenotype of GD.

      Sign-in to see all concepts, it's free!

       

    Download on the App StoreGet it on Google Play

    Copyright © 2023 Key Opinion Leaders, LLC.