ODP505 Polymorphisms of ITM2A rs1751094 on×Chromosome Is Associated with intractable Graves’ disease in Korean Children

BACKGROUND: Autoimmune thyroid diseases (AITDs) are female predominant and much attention has been focused on integral membrane protein 2A (ITM2A) on the X chromosome as Grave's disease (GD) susceptible locus. METHODS: We genotyped ITM2A rs1751094 single nucleotide polymorphism (SNP) in 166 patients (142 females and 24 males) diagnosed with AITD (67 HD and 99 GD cases). The mean age (±SD) of GD patients at enrollment was 14.4 ± 3.5 years and HD patients was 13.8 ± 3.5 years. In GD patients, 49 patients (49/99, 49.5%) had thyroid-associated ophthalmopathy (TAO). Among the 85 GD patients, 60 patients (60/85, 70.6%) were intractable GD. The data were analyzed by sex-stratified or combined with 198 healthy Korean individuals (97 females and 101 males). RESULTS: Target SNP fits the HWE. In patients with AITD (n = 166), the genotype and allele frequencies of rs1751094 AC (OR=2.5, corrected P (Pc) = 0. 000), C (OR=2. 0, Pc = 0. 000) were higher and those of AA/A (OR=0.3, Pc = 0. 000), A (OR=0.5, Pc = 0. 000) were lower than those in controls (n = 198) (Table 3). In female AITD patients (n = 143), those of rs1751094 CC (OR=2.4, Pc = 0. 031), C (OR=1.8, Pc = 0. 003) were higher and those of rs1751094 AA (OR=0.5, Pc = 0. 027), A (OR=0.6, Pc = 0. 003) were lower than those of female controls (n = 97). In patients with GD (n = 99), rs1751094 CC/C (OR=3.5, Pc = 0. 000) and C (OR=3.4, Pc = 0. 000) were higher those in controls (n = 198). In intractable GD Patients (n = 60), rs1751094 AC (OR=2.2, Pc = 0. 026) and C (OR=2.5, Pc = 0. 000) were higher than those in controls. In GD with TAO (n=49), rs1751094 CC/C (OR=2.9, Pc = 0. 003), C (OR=3.3, Pc = 0. 000) were higher than those in controls. In patients with HT (n = 67), the genotype frequencies of rs1751094 AC (OR=3. 0, Pc = 0. 000) was higher and those of AA/A (OR=0.4, Pc = 0. 002) were lower than those in controls (n = 198). CONCLUSIONS: Polymorphisms in ITM2A rs1751094 on the X chromosome might be associated with AITD in Korean children. Presentation: No date and time listed