title: Variants in IRAK1-MECP2 region confer susceptibility to autoimmune thyroid diseases.
abstract: 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.
authors.affiliation: Clinical Research Center, The First Affiliated Hospital of Medical School, Xi'an Jiaotong University, No. 277 West Yanta Road, Xi'an, Shaanxi 710061, China; Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China.
authors.forename: Rong-hua
authors.initials: RH
authors.lastname: Song
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China.
authors.forename: Qiu
authors.initials: Q
authors.lastname: Qin
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China.
authors.forename: Ni
authors.initials: N
authors.lastname: Yan
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China.
authors.forename: Fatuma-said
authors.initials: FS
authors.lastname: Muhali
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China.
authors.forename: Shuai
authors.initials: S
authors.lastname: Meng
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China.
authors.forename: Shuang-tao
authors.initials: ST
authors.lastname: He
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China. Electronic address: zhangjinan@hotmail.com.
authors.forename: Jin-an
authors.initials: JA
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D053592:Interleukin-1 Receptor-Associated Kinases / Q000235:genetics*; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013967:Thyroiditis, Autoimmune / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; C507768:IRAK1 protein, human; D053592:Interleukin-1 Receptor-Associated Kinases
keywords: Autoimmune thyroid disease (AITD); Graves' disease (GD); Hashimoto's thyroiditis (HT); Interleukin-1 receptor-associated kinase 1 (IRAK1); Methyl-CpG-binding protein 2 (MECP2); Single nucleotide polymorphism (SNP)