Wu Pin, Wang Zhi, Lu Shiyun, Zhao Xiaohong
Department of Hematology, The No. 2 People's Hospital , Wuxi , People's Republic of China.
Autoimmunity. 2014 Nov;47(7):482-5. doi: 10.3109/08916934.2014.921813. Epub 2014 Jun 4.
The G to A transition at position +1057 single nucleotide polymorphism site in CD86 gene results in the alanine to threonine substitution, which further affects the antigen-presenting cells' signal transduction. Thus, the purpose of this study was to determine the association between CD86 +1057G/A polymorphism and the risk for chronic immune thrombocytopenia (cITP). The CD86 +1057G/A polymorphism in 158 cITP patients and 150 healthy controls were detected by polymerase chain reaction restriction fragment length polymorphism and then confirmed by DNA sequencing. In the patients with cITP, the frequencies of GG, AG and AA genotypes and G and A alleles were 18.4%, 58.8%, 22.8%, 47.8% and 52.2%, respectively. No difference in genotype and allele frequencies was detected in total cITP patients and normal controls (p = 0.913 and 0.845, respectively). Cases were subsequently classified by age at diagnosis, gender or clinical responses to glucocorticoids, and still no obvious discrepancy of genotype and allele frequencies was found between each of the groups and normal controls. In conclusion, this study suggests that CD86 +1057G/A polymorphism may be not associated with the genetic susceptibility to cITP in a Chinese population.
CD86基因第+1057位单核苷酸多态性位点的G到A转变导致丙氨酸被苏氨酸取代，这进一步影响抗原呈递细胞的信号转导。因此，本研究的目的是确定CD86 +1057G/A多态性与慢性免疫性血小板减少症（cITP）风险之间的关联。采用聚合酶链反应-限制性片段长度多态性方法检测158例cITP患者和150例健康对照者的CD86 +1057G/A多态性，然后通过DNA测序进行确认。在cITP患者中，GG、AG和AA基因型以及G和A等位基因的频率分别为18.4%、58.8%、22.8%、47.8%和52.2%。在总的cITP患者和正常对照者中未检测到基因型和等位基因频率的差异（p分别为0.913和0.845）。随后根据诊断年龄、性别或对糖皮质激素的临床反应对病例进行分类，各亚组与正常对照者之间仍未发现基因型和等位基因频率的明显差异。总之，本研究提示CD86 +1057G/A多态性可能与中国人群cITP的遗传易感性无关。
