TAP1 and TAP2 polymorphism in Spanish patients with ankylosing spondylitis.

A Fraile, M D Collado, L Matarán, J Martín, A Nieto
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引用次数: 26

Abstract

Objective: HLA-B27 is strongly associated with ankylosing spondylitis (AS); however, the association is not absolute and additional susceptibility factors in the MHC region could play a role. We studied the influence of polymorphism in the transporter associated with antigen processing (TAP) genes, including point mutations not previously analyzed.

Methods: HLA-B*27 typing and subtyping as well as TAP1 and TAP2 typing were performed by PCR-RFLP. Forty-four AS individuals were compared to 61 ethnically matched random individuals and 35 B*27-positive healthy unrelated individuals as controls.

Results: The frequency of the TAP1B allele was significantly greater in the patient group compared with the random controls (corrected p value (p(c)) = 0.035; odds ratio = 15.8, p = 0.01). A greater frequency was also evident when B*27-positive patients and B*27- positive healthy controls were compared, although it did not reach statistical significance. No differences were observed in TAP2 alleles between the groups studied.

Discussion: We did not find a primary association between TAP2 polymorphism and AS susceptibility. Formal confirmation of a linkage between the TAP and HLA-B loci would probably require family studies.

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西班牙强直性脊柱炎患者的TAP1和TAP2多态性。
目的:HLA-B27与强直性脊柱炎(AS)密切相关;然而,这种联系并不是绝对的,MHC区域的其他易感因素也可能起作用。我们研究了与抗原加工(TAP)基因相关的转运体多态性的影响,包括以前未分析的点突变。方法:采用PCR-RFLP方法进行HLA-B*27分型、分型及TAP1、TAP2分型。44例AS个体与61例种族匹配随机个体和35例B*27阳性健康非亲属个体作为对照。结果:患者组TAP1B等位基因频率显著高于随机对照组(校正p值(p(c)) = 0.035;优势比= 15.8,p = 0.01)。B*27阳性患者与B*27阳性健康对照组比较,发病频率明显更高,但未达到统计学意义。TAP2等位基因在研究组间未见差异。讨论:我们没有发现TAP2多态性与AS易感性之间的主要关联。正式确认TAP和HLA-B基因座之间的联系可能需要进行家庭研究。
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