Autoimmune thyroid disease (AITD) is a recurrent and refractory clinical endocrine disease. Some studies have shown that the incidence of AITD is not only related to iodine, a kind of environmental factor, but that susceptibility genes also play a crucial role in its pathogenesis. Since research on susceptibility genes is still underway, the aims of this study were to assess the association between copy number variations (CNVs) and AITD, to identify genes related to susceptibility to AITD, and to explore the risk factors in the occurrence of AITD. Blood samples from five AITD patients and five controls from each area were assessed by chromosome microarray to identify candidate genes. The copy number (CN) of the candidate genes and urinary iodine levels were determined in adults, including 158 AITD patients and 181 controls, from areas having different iodine statuses. The cell growth-related genes, glypican 5 (GPC5), B9 domain containing 2 (B9D2), and ankyrin repeat and suppressor of cytokine signaling [SOCS] box-containing protein family 11 (ASB11), were selected as the candidate genes. The distribution of GPC5, B9D2, and ASB11 CNVs in AITD patients and controls was significantly different, and high urinary iodine levels and GPC5 CNVs are risk factors for AITD. There was no significant association between urinary iodine level and CNVs of the candidate genes. High urinary iodine levels and GPC5 CNVs are risk factors for AITD, but an association with the occurrence of AITD was not found.

中文翻译：

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细胞生长相关基因拷贝数变异在自身免疫性甲状腺疾病中的作用。

自身免疫性甲状腺疾病（AITD）是一种复发且难治的临床内分泌疾病。一些研究表明，AITD的发生不仅与碘这一环境因素有关，而且易感基因在其发病机理中也起着至关重要的作用。由于对敏感性基因的研究仍在进行中，因此本研究的目的是评估拷贝数变异（CNV）与AITD之间的关联，鉴定与AITD敏感性相关的基因，并探讨AITD发生的危险因素。通过染色体微阵列评估了来自五个AITD患者和每个区域的五个对照的血样，以鉴定候选基因。确定了成年人的候选基因的拷贝数（CN）和尿碘水平，包括158名AITD患者和181名对照，来自碘状态不同的地区。选择与细胞生长相关的基因，glypican 5（GPC5），B2结构域包含2（B9D2），以及锚蛋白重复序列​​和细胞因子信号传导[SOCS]框蛋白家族11（ASB11）的抑制剂，作为候选基因。AITD患者和对照组中GPC5，B9D2和ASB11 CNV的分布存在显着差异，而高尿碘水平和GPC5 CNV是AITD的危险因素。尿碘水平与候选基因的CNV之间无显着关联。高尿碘水平和GPC5 CNV是AITD的危险因素，但未发现与AITD发生有关。并选择锚蛋白重复序列​​和细胞因子信号传导[SOCS]盒蛋白家族11（ASB11）的抑制剂作为候选基因。AITD患者和对照组中GPC5，B9D2和ASB11 CNV的分布存在显着差异，而高尿碘水平和GPC5 CNV是AITD的危险因素。尿碘水平与候选基因的CNV之间无显着关联。高尿碘水平和GPC5 CNV是AITD的危险因素，但未发现与AITD发生有关。并选择锚蛋白重复序列​​和细胞因子信号传导[SOCS]盒蛋白家族11（ASB11）的抑制剂作为候选基因。AITD患者和对照组中GPC5，B9D2和ASB11 CNV的分布存在显着差异，而高尿碘水平和GPC5 CNV是AITD的危险因素。尿碘水平与候选基因的CNV之间无显着关联。高尿碘水平和GPC5 CNV是AITD的危险因素，但未发现与AITD发生有关。尿碘水平与候选基因的CNV之间无显着关联。高尿碘水平和GPC5 CNV是AITD的危险因素，但未发现与AITD发生有关。尿碘水平与候选基因的CNV之间无显着关联。高尿碘水平和GPC5 CNV是AITD的危险因素，但未发现与AITD发生有关。