title: Polymorphisms of CLEC16A region and autoimmune thyroid diseases.
abstract: To investigate the association of CLEC16A gene polymorphisms and autoimmune thyroid diseases (AITDs). Six hundred sixty seven Han Chinese patients with AITDs were selected as study subjects, including 417 patients with Graves' disease (GD), 250 patients with Hashimoto's thyroiditis (HT) and 301 healthy control patients. Polymerase chain reaction-restriction fragment length polymorphism (RFLP) and the mass spectrometry technique were used to genotype five CLEC16A single-nucleotide polymorphisms (SNPs) (rs12708716, rs12917716, rs12931878, rs2903692, and rs6498169). Higher frequency of G allele of rs6498169 CLEC16A gene in AITDs patients [P = 0.029, odds ratio (OR) 1.29 and 95% confidence interval 1.022-1.505] was observed. In addition an association between rs6498169 and HT was observed with statistical significance (P = 0.018, OR 1.335, 95% confidence interval 1.051-1.696). Furthermore, the GG haplotype containing the major allele of (rs12708716 and rs6498169) was associated with an increased risk of HT (P = 0.0148, OR 1.344). When patients with HT and controls were compared, results from the dominant and recessive models showed that the genotype frequency of rs6498169 were at borderline levels (P = 0.054 and P = 0.05), and the other four SNPs of CLEC16A gene showed no significant association with AITDs. Our results suggest that polymorphisms rs6498169 of CLEC16A gene confers susceptibility to AITDs. We therefore disclose for the first time the association of rs6498169 SNP with AITDs.
authors.affiliation: Clinical Research Center, The First Affiliated Hospital of Medical School of Xi'an Jiaotong University, Xi'an, People's Republic of China, 710061 Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Fatuma-Said
authors.initials: FS
authors.lastname: Muhali
authors.affiliation: Clinical Research Center, The First Affiliated Hospital of Medical School of Xi'an Jiaotong University, Xi'an, People's Republic of China, 710061 Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Tian-Tian
authors.initials: TT
authors.lastname: Cai
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Jiao-Li
authors.initials: JL
authors.lastname: Zhu
authors.affiliation: Clinical Research Center, The First Affiliated Hospital of Medical School of Xi'an Jiaotong University, Xi'an, People's Republic of China, 710061 Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Qiu
authors.initials: Q
authors.lastname: Qin
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Jian
authors.initials: J
authors.lastname: Xu
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Shuang-Tao
authors.initials: ST
authors.lastname: He
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Shi
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Wen-Juan
authors.initials: WJ
authors.lastname: Jiang
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Ling
authors.initials: L
authors.lastname: Xiao
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508.
authors.forename: Dan-Feng
authors.initials: DF
authors.lastname: Li
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, People's Republic of China, 201508 zhangjinan@hotmail.com.
authors.forename: Jin-An
authors.initials: JA
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006111:Graves Disease / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D006239:Haplotypes; D050031:Hashimoto Disease / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D006801:Humans; D037181:Lectins, C-Type / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D013959:Thyroid Diseases / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D055815:Young Adult
chemical_list: C522505:CLEC16A protein, human; D037181:Lectins, C-Type; D009004:Monosaccharide Transport Proteins
keywords: CLEC16A; Graves’ disease (GD); Hashimoto’s thyroiditis (HT); autoimmune thyroid diseases (AITDs); complex genetics; complex immunity; infection; innate immunity; resistance; single-nucleotide polymorphisms (SNPs); tolerance