在中国人群中，IL2RA 基因与斑秃的关联分析。
Association analysis of the IL2RA gene with alopecia areata in a Chinese population.
机构信息
Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
出版信息
Dermatology. 2013;227(4):299-304. doi: 10.1159/000351555. Epub 2013 Nov 21.
BACKGROUND
Interleukin-2 receptor subunit alpha (IL2RA) is highly expressed on CD4+CD25+ regulatory T cells and is important for immune homeostasis and the suppression of autoimmune responses. It has been suggested that the single nucleotide polymorphism in IL2RA may affect the pathogenesis of alopecia areata (AA).
OBJECTIVE
Our aim was to investigate the link between IL2RA polymorphism and AA in a Chinese population.
METHODS
We examined 427 patients and 430 controls in this study. The rs3118470 polymorphism was evaluated using high-resolution melting analysis and direct sequencing.
RESULTS
The prevalence of the C/C, T/C and T/T genotypes was 16.2, 48.2 and 35.6%, respectively. The genotype distribution and allele frequencies were significantly different between AA and control subjects (p < 0.0001). The C allele frequency was significantly higher in the AA group (p < 0.0001), and the frequencies of C allele and C/C genotype were higher in the patients with family history (p = 0.034; p < 0.0001).
CONCLUSIONS
The rs3118470 single nucleotide polymorphism of IL2RA may be a genetic marker to assess the risk of AA in a Chinese population.
背景
白细胞介素-2 受体亚单位 α（IL2RA）在 CD4+CD25+调节性 T 细胞上高度表达，对于免疫稳态和抑制自身免疫反应非常重要。有人提出，IL2RA 中的单核苷酸多态性可能会影响斑秃（AA）的发病机制。
目的
我们旨在研究中国人群中 IL2RA 多态性与 AA 之间的关系。
方法
本研究共纳入 427 例患者和 430 例对照。采用高分辨率熔解分析和直接测序检测 rs3118470 多态性。
结果
C/C、T/C 和 T/T 基因型的发生率分别为 16.2%、48.2%和 35.6%。AA 组和对照组的基因型分布和等位基因频率差异有统计学意义（p<0.0001）。AA 组 C 等位基因频率显著升高（p<0.0001），有家族史的患者中 C 等位基因和 C/C 基因型的频率更高（p=0.034；p<0.0001）。
结论
IL2RA 的 rs3118470 单核苷酸多态性可能是评估中国人群 AA 风险的遗传标志物。
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