title: Evidence of association between FKBP1B and thyroid autoimmune disorders in a large Tunisian family.
abstract: FKBP1B belongs to immunophilins superfamily and functions as a cytosolic receptor protein of FK506. The role of FKBP1B in the immunosuppressive pathway of FK506 is well established. Previously, we reported a strong evidence of linkage between D2S171 microsatellite marker (located in vicinity of FKBP1B gene) and susceptibility to autoimmune thyroid diseases (AITDs). In this study, we report linkage disequilibrium between the dimorphism (C/T) in the 3' untranslated region (3' UTR) of FKBP1B gene and susceptibility to AITDs. DNAs were extracted from a large Tunisian family affected with Graves' disease (GD) and Hashimoto's thyroiditis (HT) and analysed by PCR-RFLP using DraIII restriction enzyme. Our results showed an excess of transmission of the allele C from heterozygous parents to affected offspring (transmission disequilibrium test (TDT) = 4.76; p = 0.012). This suggests a linkage disequilibrium of 3' UTR (C/T) SNP with AITDs. Moreover, The FBAT analysis gives a significant association with the C allele under the recessive model (chi2 = 5.50; p = 0.018). These results support the involvement of FKBP1B gene in the genetic susceptibility to the AITDs development in the studied family.
authors.forename: Abdellatif
authors.initials: A
authors.lastname: Maalej
authors.forename: Fadhila
authors.initials: F
authors.lastname: Mbarki
authors.forename: Ahmed
authors.initials: A
authors.lastname: Rebai
authors.forename: Foued
authors.initials: F
authors.lastname: Karray
authors.forename: Jomaa
authors.initials: J
authors.lastname: Jouida
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abid
authors.forename: Hammadi
authors.initials: H
authors.lastname: Ayadi
mesh_terms: D006801:Humans; D020104:Immunophilins / Q000235:genetics*; D015810:Linkage Disequilibrium / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics*; D016559:Tacrolimus / Q000276:immunology / Q000378:metabolism*; D013967:Thyroiditis, Autoimmune / Q000235:genetics*; D014416:Tunisia
chemical_list: D020104:Immunophilins; D016559:Tacrolimus