Document Detail

Evidence for linkage and association between autoimmune thyroid diseases and the 18q12-q21 region in a large Tunisian family.
MedLine Citation:
PMID:  16426239     Owner:  NLM     Status:  MEDLINE    
Many studies have shown linkage between IDDM6 locus on 18q12-q21 chromosome and several autoimmune diseases, suggesting that it might harbour susceptibility genes common to autoimmunity. Using 12 families deriving from a large Tunisian multiplex family (the Akr family) from which 38 people were affected with autoimmune thyroid diseases (AITD), and 193 unrelated AITD patients, tested against 100 healthy subjects, we tried to replicate the positive results previously reported for the IDDM6. Akr members were genotyped with eight microsatellite markers harbouring the IDDM6 region. Multipoint non-parametric linkage analysis have shown a clear peak values of NPL score around D18S41 marker (Z = 3.72, P = 0.0001). Family-based association test (FBAT) and transmission disequilibrium test (TDT) have confirmed linkage results. In particular, a significant association with allele 3 of D18S41 and allele 2 of D18S57 markers was found. Case-control studies, using one intragenic microsatellite (locus CTG18.1) marker in the immunoglobulin transcription factor (ITF2) gene, a 5' flanking AC repeat of the anti-apoptotic BCL-2 gene as well as two SNPs at positions +52 and +1955 from transcription start site of BCL-2, showed no significant association between neither genes and AITD. Our study is the first replication of the 18q12-q21 chromosome region as a potential candidate to AITD genetic susceptibility. The Akr family has shown evidence for linkage between IDDM6 locus and AITD. Moreover, case-control study does not support the involvement of ITF2 and BCL2 genes in AITD pathogenesis.
H Hadj Kacem; A Rebai; N Kaffel; M Abid; H Ayadi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  International journal of immunogenetics     Volume:  33     ISSN:  1744-3121     ISO Abbreviation:  Int. J. Immunogenet.     Publication Date:  2006 Feb 
Date Detail:
Created Date:  2006-01-23     Completed Date:  2006-03-31     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  101232337     Medline TA:  Int J Immunogenet     Country:  England    
Other Details:
Languages:  eng     Pagination:  25-32     Citation Subset:  IM    
Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax; Tunisie.
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MeSH Terms
Autoimmune Diseases / genetics
Case-Control Studies
DNA-Binding Proteins
Genes, bcl-2
Genetic Markers
Genetic Predisposition to Disease*
Genetic Testing
Inheritance Patterns
Linkage (Genetics)
Polymorphism, Genetic
TCF Transcription Factors / genetics
Thyroid Diseases / genetics
Thyroiditis, Autoimmune / genetics*
Transcription Factors
Reg. No./Substance:
0/DNA-Binding Proteins; 0/Genetic Markers; 0/TCF Transcription Factors; 0/TCF4 protein, human; 0/Tcf7L2 transcription factor; 0/Transcription Factors

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