Tang L, Wang Y, Chen B F
School of Basic Medical Science, Changsha Medical University , Changsha , China.
Scand J Rheumatol. 2014;43(5):380-4. doi: 10.3109/03009742.2014.899390. Epub 2014 Apr 22.
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.
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.
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.
The PTPN22 gene might be associated with AS in a central south Chinese Han population.
蛋白酪氨酸磷酸酶非受体22型（PTPN22）被普遍认为是维持免疫细胞稳态的关键因素。迄今为止，在中国人群中尚未有PTPN22基因多态性与强直性脊柱炎（AS）之间关联的报道。我们试图在中国中南地区汉族人群中探究PTPN22基因与AS之间的关联。
我们的研究纳入了180名HLA - B27(+)的无血缘关系患者和360名HLA - B27(-)的健康个体。检测了7个单核苷酸多态性（SNPs：rs2476601、rs1217414、rs1217418、rs1746853、rs1970559、rs3765598和rs3811021）。采用聚合酶链反应（PCR）-限制性片段长度多态性（RFLP）方法进行基因分型。
rs2476601在患者和对照组中多态性不足。发现SNP rs1217414与AS相关，但所选择的7个SNP中的其他5个（rs1217418、rs1746853、rs1970559、rs3765598和rs3811021）与AS无关。
在中国中南地区汉族人群中，PTPN22基因可能与AS相关。
