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

Abstract 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