title: Dense mapping of IL2RA shows no association with Graves' disease in Chinese Han population.
abstract: OBJECTIVE
  Associations between IL2RA and various autoimmune diseases have been reported in Caucasians. We investigated whether genetic polymorphisms at the IL2RA locus were associated with Graves' disease (GD) in the Chinese Han population.
  
  
  METHODS
  We performed a genome-wide association study (GWAS) in 1 536 GD patients and 1 516 controls. The 1000 Genomes Project data were adopted as references for imputation analysis. After forward and conditional logistic regressions, we found that rs11256313 was the major risk variant in the CD25/IL2RA region. Thus, we further genotyped rs11256313 in a replication cohort with 3 694 GD patients and 3 510 controls using ABI 7900HT TaqMan Real-Time PCR System.
  
  
  RESULTS
  Nine single nucleotide polymorphisms (SNPs) in the IL2RA block were nominally associated with GD in our GWAS (0·01 < P < 0·05). After imputation analysis, 13 imputed SNPs in the IL2RA block were weakly associated with GD (P ≤ 0·05). Logistic regression analysis suggested that the imputed rs11256313 could represent the IL2RA block (P = 0·003). However, we failed to replicate the association of rs11256313 in a larger cohort (P = 0·145). A subphenotype analysis of rs11256313 on thyroid hormone receptor antibody (TRAb) and gender showed that there was no association in any of the subphenotype groups (P > 0·05).
  
  
  CONCLUSIONS
  The results suggested that common genetic polymorphisms at IL2RA do not exert a significant genetic effect on the development of GD in the Chinese Han population. Previously reported associations between CD25/IL2RA and autoimmune diseases including GD in Caucasians again imply that heterogeneity exists in different ethnic populations.
authors.affiliation: State Key Laboratory of Medical Genomics, Molecular Medicine Center, Ruijin Hospital, Shanghai Institute of Endocrinology and Metabolism, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Zhi-Yi
authors.initials: ZY
authors.lastname: Song
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
authors.forename: Li-Qiong
authors.initials: LQ
authors.lastname: Xue
authors.forename: Chun-Ming
authors.initials: CM
authors.lastname: Pan
authors.forename: Hai-Ning
authors.initials: HN
authors.lastname: Wang
authors.forename: Zhao-Hui
authors.initials: ZH
authors.lastname: Gu
authors.forename: Shao-Ying
authors.initials: SY
authors.lastname: Yang
authors.forename: Huang-Ming
authors.initials: HM
authors.lastname: Cao
authors.forename: Chun-Lin
authors.initials: CL
authors.lastname: Zuo
authors.forename: Xiao-Na
authors.initials: XN
authors.lastname: Zhang
authors.forename: He
authors.initials: H
authors.lastname: Jiang
authors.forename: Bing-Li
authors.initials: BL
authors.lastname: Liu
authors.forename: Ya-Xin
authors.initials: YX
authors.lastname: Bi
authors.forename: Xiao-Mei
authors.initials: XM
authors.lastname: Zhang
authors.forename: Shuang-Xia
authors.initials: SX
authors.lastname: Zhao
authors.forename: Huai-Dong
authors.initials: HD
authors.lastname: Song
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D005006:Ethnicity / Q000235:genetics; D055106:Genome-Wide Association Study; D005838:Genotype; D006111:Graves Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D053645:Interleukin-2 Receptor alpha Subunit