State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological disorders, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
Department of hematology, Zhongnan hospital of Wuhan University, Wuhan, China.
Int J Lab Hematol. 2021 Oct;43(5):1104-1109. doi: 10.1111/ijlh.13525. Epub 2021 Mar 24.
Forkhead box P3 (Foxp3) is encoded by the human FOXP3, an X-chromosome gene, and is a transcription factor that regulates regulatory T-cell (Treg) development and function. FOXP3 gene polymorphisms have recently been investigated as candidate risk factors in various autoimmune diseases. This study aimed to investigate the possible influence of FOXP3 gene polymorphisms on genetic predisposition to chronic immune thrombocytopenia (ITP).
The study cohort comprised 329 chronic ITP patients and 279 healthy controls, who were genotyped for three polymorphisms in the promoter region of FOXP3 gene, -6054 del/ATT, -3279 A/C, and -924 A/G.
Of the three polymorphisms identified, the -3279 AA genotype was more frequent in female patients with chronic ITP than in female controls (P = .035, OR 0.434, 95% CI 0.223-0.846), and the -3279 A carrier was shown to be associated with the risk of chronic ITP in female cohort (P = .003, OR 0.610, 95% CI 0.437-0.851). Furthermore, the female patients with chronic ITP had remarkably more frequent haplotype -6054 del/-3279 A/-924 A (P = .027, OR 3.584, 95% CI 1.148-11.186) and less haplotype -6054 del/-3279 C/-924 G (P = .039, OR 0.445, 95% CI 0.204-0.973) in comparison with female healthy controls. Although there were no significant differences in the male cohort, when the combined alleles and haplotypes of the two genders were analyzed, the results obtained were similar to those of females.
According to our data, the -3279 A/C polymorphism of FOXP3 gene may be associated with the susceptibility to chronic ITP in Chinese Han population.
叉头框 P3（Foxp3）由人类 FOXP3 编码，是一种 X 染色体基因，是调节调节性 T 细胞（Treg）发育和功能的转录因子。FOXP3 基因多态性最近被研究为各种自身免疫性疾病的候选风险因素。本研究旨在探讨 FOXP3 基因多态性对慢性免疫性血小板减少症（ITP）遗传易感性的可能影响。
研究队列包括 329 例慢性 ITP 患者和 279 例健康对照者，对 FOXP3 基因启动子区的三个多态性进行了基因分型，-6054del/ATT、-3279A/C 和-924A/G。
在所鉴定的三个多态性中，慢性 ITP 女性患者中-3279AA 基因型比女性对照组更为常见（P=.035，OR0.434，95%CI0.223-0.846），-3279A 携带者与女性慢性 ITP 患者的发病风险相关（P=.003，OR0.610，95%CI0.437-0.851）。此外，慢性 ITP 女性患者的-6054del/-3279A/-924A 单倍型频率显著更高（P=.027，OR3.584，95%CI1.148-11.186），-6054del/-3279C/-924G 单倍型频率更低（P=.039，OR0.445，95%CI0.204-0.973），与女性健康对照组相比。虽然在男性队列中没有显著差异，但当分析两性的组合等位基因和单倍型时，得到的结果与女性相似。
根据我们的数据，FOXP3 基因的-3279A/C 多态性可能与中国汉族人群慢性 ITP 的易感性有关。
