J Korean Pediatr Soc.  1999 Jul;42(7):980-990.

Role of Polymorphism in HLA DQ-alpha and -beta Chain Loci in the Pathophysiology of Autoimmune Thyroid Disease in Children with and without Turner Syndrome

Affiliations
  • 1Department of Pediatrics, Eulji Medical College, Taejon, Korea.
  • 2Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.
  • 3Department of Pediatrics, College of Medicine, Kyunghee University, Seoul, Korea.
  • 4Genome Center , Korea Research Institute of Bioscience and Biotechnology, Taejon, Korea.

Abstract

PURPOSE: About 10% of girls with Turner syndrome may have autoimmune thyroid disease(AIT), but the disease's pathophysiology has not yet been elucidated. Accordingly, this study was performed to observe whether the pathogenesis of AIT in children with Turner syndrome and without Turner syndrome correlate with special loci of DQ and chain in HLA.
METHODS
Blood samples were drawn from children with and without Turner syndrome. Thyroid antibodies(anti-thyroglobulin and anti-microsomal antibody) were measured from the samples to determine AIT. DNAs were extracted with the DNA extraction kit and processed in PCR reaction for amplification of exon 2 region of HLA-DQA1 and -DQB1, and then eluted again. The eluted PCR products were sequenced directly with an automatic sequencer. The sequences were compared with those of normal control.
RESULTS
There was a signficant increase in frequencies of HLA DQA1*0301(P<0.05) and HLA DQB1*0601 but without statistical significance(P=0.06) in normal children with AIT, compared with those in control group. There was signficantly but slightly increased frequency of HLA DQA1*0104, 0105 and DQB1*0202 in the group of children with Turner syndrome who had AIT than in control group. The frequency of the marker chromosome(45,X/46,XX+mar) increased in children with Turner syndrome who had AIT, compared with these in children with Turner syndrome who did not have AIT. Children with Turner syndrome who had spontaneous puberty had higher a incidence rate of AIT than those who did not have spontaneous puberty(P<0.01).
CONCLUSION
The results suggest that HLA DQA1*0301 and HLA DQB1*0601 play a role in the pathogenesis of AIT in children without Turner syndrome, but not in children with Turner syndrome. Additionally, there seem to be other factors participating in the pathogenesis of AIT in children with Turner syndrome, such as chromosomal karyotype and spontaneous puberty. Therefore, the factors participitating in the pathogenesis of AIT in children with Turner syndrome remain to be elucidated with further study.

Keyword

Turner syndrome; Autoimmune thyroid disease; HLA DQ

MeSH Terms

Adolescent
Child*
DNA
Exons
Female
Humans
Incidence
Karyotype
Polymerase Chain Reaction
Puberty
Thyroid Diseases*
Thyroid Gland*
Turner Syndrome*
DNA
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