Associations of melatonin receptor gene polymorphisms with Graves' disease

• Published in: PloS one Vol. 12; no. 9; p. e0185529
• Main Authors: Lin, Jiunn-Diann, Yang, Shun-Fa, Wang, Yuan-Hung, Fang, Wen-Fang, Lin, Ying-Chin, Liou, Bing-Chun, Lin, Yuh-Feng, Tang, Kam-Tsun, Cheng, Chao-Wen
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 29.09.2017; Public Library of Science (PLoS)
• Subjects: Antigens; Apoptosis; Autoimmune diseases; Biology and Life Sciences; Cardiovascular disease; Case-Control Studies; Clinical medicine; Confidence intervals; Disease control; Endocrinology; Gene expression; Genetic aspects; Graves Disease - genetics; Graves' disease; Haplotypes; Hospitals; Humans; Immunity; Internal medicine; Iodide peroxidase; Lupus; Lymphocytes; Medical research; Medical screening; Medicine; Medicine and Health Sciences; Melatonin; Metabolism; Pathogenesis; Peroxidase; Polymorphism, Single Nucleotide; Receptors, Melatonin - genetics; Rheumatoid arthritis; Rodents; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Thyroid; Thyroid diseases; Thyroiditis; Taiwan
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0185529

Melatonin plays an important role in immunity and has been linked to autoimmune diseases. Possible associations of single-nucleotide polymorphisms (SNPs) of melatonin receptor type 1A (MTNR1A) and 1B (MTNR1B), with autoimmune thyroid disease in an ethnic Chinese (i.e., Taiwanese) population were examined. Totally, 83 Hashimoto's thyroiditis patients, 319 Graves' disease (GD), and 369 controls were recruited. Three SNPs (rs6553010, rs13140012, and rs2119882) of MTNR1A and three SNPs (rs1387153, rs10830963, and rs1562444) of MTNR1B were genotyped. There were a reduced frequency of the C allele of rs2119882 and a reduced percentage of the CC+CT genotype in the GD group compared to the control group (p = 0.039, odds ratio (OR) = 0.79, 95% confidence interval (CI) = 0.63~0.99, and p = 0.032, OR = 0.72, 95% CI = 0.53~0.97, respectively). There was a significant difference in the percentage of the AT haplotype of the combination of rs13140012 and rs2119882 between the GD and control groups (p = 0.010, OR = 1.34, 95% CI = 1.07~1.67). In addition, there were significant associations of anti-thyroid peroxidase antibody titers with rs13140012 and rs2119882, and the AATT genotype of the combination of rs13140012 and rs2119882 (p = 0.003, 0.003, and 0.004, respectively). There were no significant associations of SNPs and possible haplotypes of MTNR1B with susceptibility to GD. Genetic variants of rs2119882 of MTNR1A and the AT haplotype of the combination of rs2119882 and rs13140012 were associated with GD susceptibility in an ethnic Chinese population. The results support the involvement of the melatonin pathway in the pathogenesis of GD.