Abstract
Background Autoimmune thyroid diseases (AITD) are complex conditions that are caused by an interaction between genetic susceptibility and environmental triggers. Iodine is already known to be an environmental trigger for AITD, but genes associated with susceptibility need to be further assessed. Therefore, the aims of this study were to assess the association between copy number variations (CNVs) and AITD, to identify genes related with susceptibility to AITD, and to investigate the interaction between iodine status and CNVs in the occurrence of AITD. Methods Blood samples from 15 patients with AITD and 15 controls were assessed by chromosome microarray to identify candidate genes. The copy number of candidate genes and urinary iodine level was determined in adults from areas of different iodine statuses including 158 patients and 181 controls. Results The immune-related genes, SIRPB1 and TMEM91, were selected as candidate genes. The distribution of SIRPB1 CNV in AITD patients and controls was significantly different and was considered a risk factor for AITD. There was no significant association between urinary iodine level and candidate gene CNVs. Conclusion SIRPB1 CNV and an excess of iodine were risk factors for AITD, but an association with the occurrence of AITD was not found.
Highlights
Autoimmune thyroid disease (AITD) is an organ-specific autoimmune disease that is characterized by the variable degree of lymphocytic infiltration of the thyroid gland, which can eventually lead to thyroid atrophy and loss of function [1, 2]
According to a genome-wide association study based on the comparison of patients and controls, two immune-related genes, signal regulatory protein beta 1 gene (SIRPB1) and transmembrane protein 91 gene (TMEM91), were selected as candidate genes, which were located on the chromosomal regions 20p13 and 19q13.2, respectively
Analysis of multivariate logistic regression revealed that high urinary iodine levels (odds ratio (OR) = 1.94, p = 0 031) and SIRPB1 copy number variations (CNVs) (OR = 3.51, p = 0 016) were risk factors for Autoimmune thyroid diseases (AITD) (Table 4)
Summary
Autoimmune thyroid diseases (AITD) are complex conditions that are caused by an interaction between genetic susceptibility and environmental triggers. Iodine is already known to be an environmental trigger for AITD, but genes associated with susceptibility need to be further assessed. The aims of this study were to assess the association between copy number variations (CNVs) and AITD, to identify genes related with susceptibility to AITD, and to investigate the interaction between iodine status and CNVs in the occurrence of AITD. The copy number of candidate genes and urinary iodine level was determined in adults from areas of different iodine statuses including 158 patients and 181 controls. The distribution of SIRPB1 CNV in AITD patients and controls was significantly different and was considered a risk factor for AITD. SIRPB1 CNV and an excess of iodine were risk factors for AITD, but an association with the occurrence of AITD was not found
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
