血小板活化因子乙酰水解酶基因Val279Phe突变与银屑病的相关性研究

目的 探讨血小板活化因子乙酰水解酶(PAF-AH)在银屑病发病机制中的作用。方法 等位基因特异性聚合酶链反应技术分析银屑病患者及健康对照者PAF-AH基因Val279Phe位点的多态性,并对含有突变等位基因的多态性片段进行DNA测序分析。采用PAF-AH活性检测试剂盒测定血浆PAF-AH的活性。结果 所有研究对象中发现3例Val279Phe突变型杂合子,未发现突变型纯合子;银屑病组的突变等位基因频率与健康对照组差异无统计学意义(P>0.1);银屑病患者血浆PAF-AH活性低于健康献血者,两组比较差异有统计学意义(P<0.01)。结论 本研究结果提示PAF-AH基因的Val279Phe突变与银屑病无明显的相关关系,可能不是银屑病患者血浆PAF-AH活性降低的主要原因。

Association of Val279Phe Missense Mutation in the Platelet-Activating Factor Acetylhydrolase Gene with Genetic Susceptibility to Psoriasis

Objective To investigate the association of Val279Phe missense mutation in the PAF-AH gene with genetic susceptibility to psoriasis vulgaris, and the role of single nucleotide polymorphisms of PAF-AH gene in the pathogenesis of psoriasis. Methods Genomic DNA was analyzed by the allele specific polymerase chain reaction for the Val279Phe mutation in patients with psoriasis and the healthy controls matched in age and sex. DNA sequencing was used to detect the PCR products with the mutant allele gene. Plasma PAF-AH activity was tested by PAF-AH assay kit. Results The prevalence of the mutation and the frequency of the mutation in the patients with psoriasis was not significantly different from those in the healthy controls (P > 0.1). Plasma PAF-AH activity in the patients with psoriasis was significantly lower than that in the healthy controls(P < 0.01). Conclusions The results suggest that Val279Phe missense mutation in the PAF-AH gene has no significant relationship with psoriasis. It may not be a genetic risk factor for psoriasis in the Chinese patients. But it can result in significant deficiency of plasma PAF-AH activity.