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Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans.
Diabetes Metab Res Rev 2011; 27(8):878-82DM

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+Show Affiliations

Department of Internal Medicine and Bioengineering, Hanyang University College of Medicine and Engineering, and Hanyang University Hospital, Seoul, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22069277

Citation

Lee, Hye-Soon, et al. "Susceptibility Influence of a PTPN22 Haplotype With Thyroid Autoimmunity in Koreans." Diabetes/metabolism Research and Reviews, vol. 27, no. 8, 2011, pp. 878-82.
Lee HS, Kang J, Yang S, et al. Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans. Diabetes Metab Res Rev. 2011;27(8):878-82.
Lee, H. S., Kang, J., Yang, S., Kim, D., & Park, Y. (2011). Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans. Diabetes/metabolism Research and Reviews, 27(8), pp. 878-82. doi:10.1002/dmrr.1265.
Lee HS, et al. Susceptibility Influence of a PTPN22 Haplotype With Thyroid Autoimmunity in Koreans. Diabetes Metab Res Rev. 2011;27(8):878-82. PubMed PMID: 22069277.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans. AU - Lee,Hye-Soon, AU - Kang,Jungoo, AU - Yang,Seiwon, AU - Kim,Dukhee, AU - Park,Yongsoo, PY - 2011/11/10/entrez PY - 2011/11/10/pubmed PY - 2012/3/27/medline SP - 878 EP - 82 JF - Diabetes/metabolism research and reviews JO - Diabetes Metab. Res. Rev. VL - 27 IS - 8 N2 - 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. SN - 1520-7560 UR - https://www.unboundmedicine.com/medline/citation/22069277/Susceptibility_influence_of_a_PTPN22_haplotype_with_thyroid_autoimmunity_in_Koreans_ L2 - https://doi.org/10.1002/dmrr.1265 DB - PRIME DP - Unbound Medicine ER -