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The R620W polymorphism of the protein tyrosine phosphatase 22 gene in autoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population.
Ann Hum Biol. 2009 May-Jun; 36(3):342-9.AH

Abstract

BACKGROUND

Protein tyrosine phosphatase (PTPN22) is involved in the negative regulation of T-cell responsiveness. The association of a coding variant of the PTPN22 gene (R620W) with a number of autoimmune diseases has been described.

AIM

The present study investigated whether PTPN22 gene polymorphism was also involved in the genetic predisposition to autoimmune thyroid diseases (AITDs) and rheumatoid arthritis (RA) in a Tunisian case control study.

SUBJECTS AND METHODS

DNA samples from 150 patients affected with RA, 204 patients affected with AITDs and 236 healthy controls were genotyped for PTPN22 R620W polymorphism (1858C/T). Genotyping was performed by the polymerase chain reaction-restriction fragment length polymorphism method.

RESULTS

No significant differences in T allele frequency (2.3% in RA patients and 1% in AITDs patients vs 2.6% in controls; p=0.85 and p=0.08, respectively) and in genotype frequencies were detected between RA patients and controls (p=0.15) and between AITDs patients (p=0.11). Stratifying patients affected with AITDs according to their phenotype (Graves' disease and Hashimoto's thyroiditis) and RA patients according to the presence of rheumatoid factor (RF) and antibodies against cyclic citrullinated peptides (ACPA) did not show any significant association with PTPN22 R620W allele (p>0.05).

CONCLUSION

Our data suggest that the PTPN22 C1858T single nucleotide polymorphism has no or minor effect on RA and AITDs susceptibility in the Tunisian population.

Authors+Show Affiliations

Faculté de Médecine de Sfax, Laboratoire de Génétique Moléculaire Humaine, Sfax, Tunisia. ghazi.chabchoub@laposte.netNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19343596

Citation

Chabchoub, Ghazi, et al. "The R620W Polymorphism of the Protein Tyrosine Phosphatase 22 Gene in Autoimmune Thyroid Diseases and Rheumatoid Arthritis in the Tunisian Population." Annals of Human Biology, vol. 36, no. 3, 2009, pp. 342-9.
Chabchoub G, Teixiera EP, Maalej A, et al. The R620W polymorphism of the protein tyrosine phosphatase 22 gene in autoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population. Ann Hum Biol. 2009;36(3):342-9.
Chabchoub, G., Teixiera, E. P., Maalej, A., Ben Hamad, M., Bahloul, Z., Cornelis, F., & Ayadi, H. (2009). The R620W polymorphism of the protein tyrosine phosphatase 22 gene in autoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population. Annals of Human Biology, 36(3), 342-9. https://doi.org/10.1080/03014460902817968
Chabchoub G, et al. The R620W Polymorphism of the Protein Tyrosine Phosphatase 22 Gene in Autoimmune Thyroid Diseases and Rheumatoid Arthritis in the Tunisian Population. Ann Hum Biol. 2009;36(3):342-9. PubMed PMID: 19343596.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The R620W polymorphism of the protein tyrosine phosphatase 22 gene in autoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population. AU - Chabchoub,Ghazi, AU - Teixiera,Elisabeth Petit, AU - Maalej,Abdellatif, AU - Ben Hamad,Mariem, AU - Bahloul,Zouheir, AU - Cornelis,Francois, AU - Ayadi,Hammadi, PY - 2009/4/4/entrez PY - 2009/4/4/pubmed PY - 2009/6/27/medline SP - 342 EP - 9 JF - Annals of human biology JO - Ann. Hum. Biol. VL - 36 IS - 3 N2 - BACKGROUND: Protein tyrosine phosphatase (PTPN22) is involved in the negative regulation of T-cell responsiveness. The association of a coding variant of the PTPN22 gene (R620W) with a number of autoimmune diseases has been described. AIM: The present study investigated whether PTPN22 gene polymorphism was also involved in the genetic predisposition to autoimmune thyroid diseases (AITDs) and rheumatoid arthritis (RA) in a Tunisian case control study. SUBJECTS AND METHODS: DNA samples from 150 patients affected with RA, 204 patients affected with AITDs and 236 healthy controls were genotyped for PTPN22 R620W polymorphism (1858C/T). Genotyping was performed by the polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: No significant differences in T allele frequency (2.3% in RA patients and 1% in AITDs patients vs 2.6% in controls; p=0.85 and p=0.08, respectively) and in genotype frequencies were detected between RA patients and controls (p=0.15) and between AITDs patients (p=0.11). Stratifying patients affected with AITDs according to their phenotype (Graves' disease and Hashimoto's thyroiditis) and RA patients according to the presence of rheumatoid factor (RF) and antibodies against cyclic citrullinated peptides (ACPA) did not show any significant association with PTPN22 R620W allele (p>0.05). CONCLUSION: Our data suggest that the PTPN22 C1858T single nucleotide polymorphism has no or minor effect on RA and AITDs susceptibility in the Tunisian population. SN - 1464-5033 UR - https://www.unboundmedicine.com/medline/citation/19343596/The_R620W_polymorphism_of_the_protein_tyrosine_phosphatase_22_gene_in_autoimmune_thyroid_diseases_and_rheumatoid_arthritis_in_the_Tunisian_population_ L2 - http://www.tandfonline.com/doi/full/10.1080/03014460902817968 DB - PRIME DP - Unbound Medicine ER -