CD86基因启动子－3479 A／C 位点单核苷酸多态性与 ITP 遗传易感性的关系

目的：探讨CD86基因启动子－3479 A／C位点（ rs2715267）单核苷酸多态性与原发免疫性血小板减少症（ ITP）遗传易感性的关系。方法收集93例成人慢性ITP患者（ ITP组）及119例健康对照者（对照组），提取两组外周血DNA，采用位点特异性PCR进行DNA分型检测。分型结果通过DNA测序方法进行验证。结果 CD86基因启动子－3479 A／C位点基因型AA、AC和CC在ITP组的分布频率分别为40．9％、52．6％及6．5％，在对照组的分布频率分别为49．6％、37．8％及12．6％，两组比较P 均＞0．05；等位基因A和C在ITP组的分布频率分别为67．2％、32．8％，在对照组的分布频率分别为68．5％、31．5％，两组比较P均＞0．05。两组同性别CD86基因启动子－3479 A／C位点等位基因及基因型的分布频率比较P均＞0．05。根据糖皮质激素治疗效果将ITP患者进行分组，结果显示，激素有效组、激素无效组CD86基因启动子－3479 A／C位点等位基因及基因型的分布频率比较P均﹥0．05。结论 CD86基因启动子－3479 A／C位点的单核苷酸多态性可能与ITP的遗传易感性无关。

Relation between CD86 gene-3479 A/C site polymorphism and genetic susceptibility to primary immune thrombocytopenia

Objective To explore the association between the CD 86 -3479 A/C site （ rs2715267 ） polymorphism and the risk of ITP.Methods Ninety three adult chronic ITP patients and 119 normal controls were enrolled in this study . Genomic DNA was extracted from peripheral blood , and genotyping of -3479 A/C site was performed by using a PCR with sequence specific primers and confirmed by DNA sequencing .Results CD86 gene -3479 A/C site genotype frequencies of AA, AC and CC were 40.9%, 52.6%and 6.5%in ITP patients respectively, and were 49.6%, 37.8%and 12.6%in normal controls respectively （P〉0.05）.The allele frequencies of A and C were 67.2%and 32.8%in ITP patients re-spectively, and were 68.5%and 31.5% in normal controls respectively（P〉0.05）.We further subdivided the patients and normal controls according to the sex and clinical responses to glucocorticoids , but still did not find any difference in genotype and allele frequencies between each pair of these subgroups .Conclusion CD86 -3479 A/C polymorphisms may not be associated with the genetic susceptibility to ITP in a Chinese population .