title: Association analysis of the IL2RA gene with alopecia areata in a Chinese population.
abstract: 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.
authors.affiliation: Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Miao
authors.forename: Z
authors.initials: Z
authors.lastname: Kang
authors.forename: F
authors.initials: F
authors.lastname: Xu
authors.forename: S
authors.initials: S
authors.lastname: Qi
authors.forename: Y
authors.initials: Y
authors.lastname: Sheng
authors.forename: Y
authors.initials: Y
authors.lastname: Han
authors.forename: R
authors.initials: R
authors.lastname: Hu
authors.forename: X
authors.initials: X
authors.lastname: Guo
authors.forename: Q
authors.initials: Q
authors.lastname: Yang
mesh_terms: D000328:Adult; D000506:Alopecia Areata / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D005819:Genetic Markers; C508017:IL2RA protein, human; D053645:Interleukin-2 Receptor alpha Subunit