title: Both interleukin-23A polymorphism and serum interlukin-23 expression are associated with Graves' disease risk.
abstract: Two independent Chinese cohorts were used to study the genetic association between the interleukin-23A (IL-23A) gene polymorphism (rs11171806) and susceptibility to Graves' disease (GD). The initial Shanghai cohort consisted of 712 unrelated patients with GD and 705 healthy control subjects, and the replication cohort from Xiamen Island included 433 patients with GD and 410 healthy control subjects. The serum concentration of IL-23 in GD patients was measured significantly higher than in health controls. Moreover in the subgroup analysis, higher concentrations of IL-23 were identified in patients of older age (⩾40 years) and female gender. We also performed an association study with the IL-23 gene polymorphism rs11171806 in both cohorts, in Shanghai cohorts, the frequencies of rs11171806 alleles were strongly different between Graves' disease patients (G 95.7% and A 4.3%) and healthy controls (G 97.7% and A 2.3%) (P=2.6×10(-3), OR=1.93 (95% CI: 1.25-2.97)), and in Xiamen cohorts, the proportion of individuals carrying the A allele of rs11171806 was the same significantly higher in Graves' disease patients than in controls [Graves' disease vs. control, 4.8% vs. 4.3%, OR=2.15 (95% CI: 1.23-3.79), P(allele)=6.3×10(-3)]. The distribution of rs11171806 genotype was also investigated in subgroups according to the age and gender. All of these findings suggested that IL-23 may play an important role in the development of GD, and the IL-23A gene is a genetic risk marker for GD in Han Chinese population.
authors: Department of Endocrinology and Metabolism, Ruijin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Huiying
authors: H
authors: Jia
authors: Department of Diabetes Center, Shuguang Hospital, Affiliated with Shanghai Traditional Chinese Medicine University, Shanghai, China.
authors: Feng
authors: F
authors: Tao
authors: Department of Endocrinology and Metabolism, Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China.
authors: Changqin
authors: C
authors: Liu
authors: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Department of Endocrinology and Metabolism, Shanghai Key Laboratory for Endocrine Tumors and E-Institutes of Shanghai Universities, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Ting
authors: T
authors: Guo
authors: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Department of Endocrinology and Metabolism, Shanghai Key Laboratory for Endocrine Tumors and E-Institutes of Shanghai Universities, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Wei
authors: W
authors: Zhu
authors: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Department of Endocrinology and Metabolism, Shanghai Key Laboratory for Endocrine Tumors and E-Institutes of Shanghai Universities, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Shu
authors: S
authors: Wang
authors: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Department of Endocrinology and Metabolism, Shanghai Key Laboratory for Endocrine Tumors and E-Institutes of Shanghai Universities, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: bcui@sibs.ac.cn.
authors: Bin
authors: B
authors: Cui
authors: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Department of Endocrinology and Metabolism, Shanghai Key Laboratory for Endocrine Tumors and E-Institutes of Shanghai Universities, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Guang
authors: G
authors: Ning
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000097:blood / Q000276:immunology; D044466:Asian People / Q000235:genetics; D002648:Child; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000453:epidemiology* / Q000235:genetics / Q000276:immunology; D006801:Humans; D053760:Interleukin-23 Subunit p19 / Q000097:blood* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D012737:Sex Factors; D055815:Young Adult
chemical_list: C508840:IL23A protein, human; D053760:Interleukin-23 Subunit p19
keywords: Autoimmune disease; Graves’ disease; Interleukin-23; Single nucleotide polymorphism