Association Analysis of the IL2RA Gene with Alopecia Areata in a Chinese Population

作者：Miao Y; Kang Z; Xu F; Qi S; Sheng Y; Han Y; Hu R; Guo X; Yang Q^*

来源：Dermatology, 2013, 227(4): 299-304.

DOI：10.1159/000351555

• Alopecia areata
• IL2RA
• rs3118470
• Single nucleotide polymorphism

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.

• 出版日期2013
• 单位复旦大学