title: Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans.
abstract: BACKGROUND
  Considerable amount of evidences in the Caucasians have suggested the association of a missense single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene (rs2476601) with several autoimmune diseases including autoimmune thyroid diseases (AITD) and type 1 diabetes (T1D). As the SNP was reported to be non-polymorphic in Asians, we attempt to explore an association of PTPN22 without restricting to the rs2476601 with AITD or T1D in Korean population.
  
  
  METHODS
  We studied 389 T1D, 212 AITD (84 Graves' disease and 128 Hashimoto's thyroiditis) patients and 225 controls. In addition to the rs2476601, we selected five testing SNPs spanning 58 kb over the PTPN22 gene using the previous resequencing data and International HapMap Project.
  
  
  RESULTS
  We found that neither alleles, genotypes among all five SNPs, nor reconstructed haplotypes of five SNPs were associated with T1D. Interestingly, a minor allele of a SNP (rs12730735) and a haplotype (GGCTT) showed significant association with the susceptibility of AITD, especially with that of Hashimoto's thyroiditis (p<0.01).
  
  
  CONCLUSIONS
  These results indicate that the PTPN22 gene polymorphism independent of the SNP rs2476601 might be a supplementary risk factor to AITD, but not in T1D in Koreans, contradicting a major contributory influence of the PTPN22 gene in explaining common mechanism underlying multiple autoimmune diseases.
authors: Department of Internal Medicine and Bioengineering, Hanyang University College of Medicine and Engineering, and Hanyang University Hospital, Seoul, Korea.
authors: Hye-Soon
authors: HS
authors: Lee
authors: Jungoo
authors: J
authors: Kang
authors: Seiwon
authors: S
authors: Yang
authors: Dukhee
authors: D
authors: Kim
authors: Yongsoo
authors: Y
authors: Park
mesh_terms: D044466:Asian People / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000235:genetics; D006239:Haplotypes; D050031:Hashimoto Disease / Q000235:genetics*; D006801:Humans; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D056910:Republic of Korea; D013967:Thyroiditis, Autoimmune / Q000235:genetics*
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22