Allele and genotype frequencies of two SNPs in the second phase and combined study
To further verify the correlation between two loci (rs3118470 and rs2104286) and susceptibility to GD, we genotyped three loci in another 350 GD patients and 700 healthy controls. The result of rs2104286 was consistent with the first stage results (AA genotype: Pc = 0.006,OR = 1.618), while no association was observed for rs3118470. The combined data showed that the IL2RA /rs3118470 T allele and the TT genotype (T allele: Pc = 1.490 × 10-3,OR = 1.278; TT genotype: Pc = 2.212 × 10-3, OR = 1.453), and theIL2RA /rs2104286 A allele and the AA genotype (A allele: Pc= 0.008, OR = 1.322; AA genotype: Pc = 1.754 × 10-5, OR = 1.636) were significantly associated with an increased risk for GD (Table 2). The sequencing results were consistent with the PCR-RFLP genotyping results.