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

Shim, Kye Shik; Choeh, Kyu Chul; Yang, Sei Won; Chung, Sa Jun; Lee, Jin Sung; Lee, Kyung Tae; Goh, Sung Ho; Kim, Yong Sung

Original Article

Journal of the Korean Pediatric Society 1999;42(7):980-990.
Published online July 15, 1999.

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

Kye Shik Shim¹, Kyu Chul Choeh¹, Sei Won Yang², Sa Jun Chung³, Jin Sung Lee⁴, Kyung Tae Lee⁴, Sung Ho Goh⁴, Yong Sung Kim⁴

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

터너증후군 환자 및 정상인에서 조직적합항원 DQα 및 β Chain 유전자좌 다형성이 자가면역성 갑상선 질환발생에 미치는 영향

심계식^¹^, 최규철^¹^, 양세원^²^, 정사준^³^, 이진성^⁴^, 이경태^⁴^, 고성호^⁴^, 김용성^⁴

^¹을지의과대학 소아과학교실
^²경희대학교 의과대학 소아과학교실
^³경희대학교 의과대학 소아과학교실
^⁴생명공학 연구소

Correspondence:
Kye Shik Shim, Email: 1

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 α and β 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.

Key Words: Turner syndrome, Autoimmune thyroid disease, HLA DQ