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A variant within intron 1 of the PTPN22 gene decreases the genetic susceptibility of ankylosing spondylitis in a central south Chinese Han population.
Scand J Rheumatol. 2014; 43(5):380-4.SJ

Abstract

OBJECTIVES

The protein tyrosine phosphatase non-receptor type 22 (PTPN22) is generally accepted as a key factor in maintaining immune cellular homeostasis. So far, no association has been reported between the polymorphisms of PTPN22 and ankylosing spondylitis (AS) in Chinese populations. We attempted to explore the association between the PTPN22 gene and AS in a central south Chinese Han population.

METHOD

Our study involved 180 HLA-B27(+) unrelated patients and 360 HLA-B27(-) healthy individuals. Seven single nucleotide polymorphisms (SNPs: rs2476601, rs1217414, rs1217418, rs1746853, rs1970559, rs3765598, and rs3811021) were detected. Genotyping was conducted using the polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) method.

RESULTS

rs2476601 was not polymorphic enough in both patients and controls. The SNP rs1217414 was found to be associated with AS but the other five of the seven selected SNPs (rs1217418, rs1746853, rs1970559, rs3765598 and rs3811021) were not.

CONCLUSIONS

The PTPN22 gene might be associated with AS in a central south Chinese Han population.

Authors+Show Affiliations

School of Basic Medical Science, Changsha Medical University , Changsha , China.No affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

24749936

Citation

Tang, L, et al. "A Variant Within Intron 1 of the PTPN22 Gene Decreases the Genetic Susceptibility of Ankylosing Spondylitis in a Central South Chinese Han Population." Scandinavian Journal of Rheumatology, vol. 43, no. 5, 2014, pp. 380-4.
Tang L, Wang Y, Chen BF. A variant within intron 1 of the PTPN22 gene decreases the genetic susceptibility of ankylosing spondylitis in a central south Chinese Han population. Scand J Rheumatol. 2014;43(5):380-4.
Tang, L., Wang, Y., & Chen, B. F. (2014). A variant within intron 1 of the PTPN22 gene decreases the genetic susceptibility of ankylosing spondylitis in a central south Chinese Han population. Scandinavian Journal of Rheumatology, 43(5), 380-4. https://doi.org/10.3109/03009742.2014.899390
Tang L, Wang Y, Chen BF. A Variant Within Intron 1 of the PTPN22 Gene Decreases the Genetic Susceptibility of Ankylosing Spondylitis in a Central South Chinese Han Population. Scand J Rheumatol. 2014;43(5):380-4. PubMed PMID: 24749936.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A variant within intron 1 of the PTPN22 gene decreases the genetic susceptibility of ankylosing spondylitis in a central south Chinese Han population. AU - Tang,L, AU - Wang,Y, AU - Chen,B F, Y1 - 2014/04/22/ PY - 2014/4/23/entrez PY - 2014/4/23/pubmed PY - 2014/12/15/medline SP - 380 EP - 4 JF - Scandinavian journal of rheumatology JO - Scand. J. Rheumatol. VL - 43 IS - 5 N2 - OBJECTIVES: The protein tyrosine phosphatase non-receptor type 22 (PTPN22) is generally accepted as a key factor in maintaining immune cellular homeostasis. So far, no association has been reported between the polymorphisms of PTPN22 and ankylosing spondylitis (AS) in Chinese populations. We attempted to explore the association between the PTPN22 gene and AS in a central south Chinese Han population. METHOD: Our study involved 180 HLA-B27(+) unrelated patients and 360 HLA-B27(-) healthy individuals. Seven single nucleotide polymorphisms (SNPs: rs2476601, rs1217414, rs1217418, rs1746853, rs1970559, rs3765598, and rs3811021) were detected. Genotyping was conducted using the polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) method. RESULTS: rs2476601 was not polymorphic enough in both patients and controls. The SNP rs1217414 was found to be associated with AS but the other five of the seven selected SNPs (rs1217418, rs1746853, rs1970559, rs3765598 and rs3811021) were not. CONCLUSIONS: The PTPN22 gene might be associated with AS in a central south Chinese Han population. SN - 1502-7732 UR - https://www.unboundmedicine.com/medline/citation/24749936/A_variant_within_intron_1_of_the_PTPN22_gene_decreases_the_genetic_susceptibility_of_ankylosing_spondylitis_in_a_central_south_Chinese_Han_population_ L2 - http://www.tandfonline.com/doi/full/10.3109/03009742.2014.899390 DB - PRIME DP - Unbound Medicine ER -