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Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans
Author(s) -
Lee HyeSoon,
Kang Jungoo,
Yang Seiwon,
Kim Dukhee,
Park Yongsoo
Publication year - 2011
Publication title -
diabetes/metabolism research and reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.307
H-Index - 110
eISSN - 1520-7560
pISSN - 1520-7552
DOI - 10.1002/dmrr.1265
Subject(s) - ptpn22 , single nucleotide polymorphism , haplotype , snp , thyroiditis , genotype , allele , genetics , biology , minor allele frequency , autoimmune thyroiditis , medicine , immunology , thyroid , gene
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. Copyright © 2011 John Wiley & Sons, Ltd.