Variants in IRAK1-MECP2 region confer susceptibility to autoimmune thyroid diseases

• Alleles of rs3027898, rs1059703, rs2075596 and rs2239464 were associated with AITDs.
• Genotypes and haplotypes of the four SNPs were the associated variants for AITDs.
• Similar associations were found in Graves' disease and Hashimoto's thyroiditis.
• Alleles, genotypes and haplotypes of the SNPs were also associated with female AITDs.
• The genes IRAK1 and MECP2 are crucial risk factors for AITDs.

Our objective was to investigate whether interleukin-1 receptor-associated kinase (IRAK1) and methyl-CpG-binding protein 2 (MECP2) are associated with autoimmune thyroid diseases (AITDs). We selected four single nucleotide polymorphisms (SNPs), rs3027898, rs1059703 in IRAK1 and rs2075596, rs2239464 in MECP2, for genotyping using PCR-based ligase detection reaction (LDR) method in 1042 AITDs patients and 897 controls. Minor alleles in the four SNPs were strongly associated with AITDs, and similar associations were found in Graves' disease (GD). In Hashimoto's thyroiditis (HT) patients, a significantly increased risk of T allele in rs1059703 was found. There were obvious differences in allele and genotype distributions in female AITDs, GD and HT patients. Moreover, the haplotypes CCAA and ATGG were the associated variants for AITDs and GD. Besides, these two haplotypes showed similar associations with AITDs and GD in female patients. Our results firstly indicated that IRAK1 and MECP2 genes are crucial risk factors for AITDs.