Department of Anesthesiology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
College of Medicine, Chang Gung University, Taoyuan, Taiwan.
J Clin Endocrinol Metab. 2020 Jul 1;105(7). doi: 10.1210/clinem/dgaa191.
The purpose of this work is to assess the extent of familial aggregation of nonmedullary thyroid cancer (NMTC) and the relative risks (RRs) of chronic thyroid diseases and common malignancies in first-degree relatives of NMTC patients.
In the National Health Insurance Research database of Taiwan, all eligible individuals in 2016 were analyzed (n = 23 696 659) and the family structures of 38 686 patients diagnosed with NMTC between 1997 and 2016 were identified. The prevalence and RRs of NMTC, chronic thyroid diseases, and common malignancies in individuals with first-degree relatives with NMTC were examined. The accountability of heritability and environmental factors to NMTC susceptibility was estimated using the polygenic liability model.
The prevalence of NMTC was 0.16% in the general population and 0.64% in individuals with first-degree relatives with NMTC. Regarding affected relatives, the RR (95% CI) for NMTC was 20.12 (4.86-83.29) for twins, 6.43 (4.80-8.62) for siblings, 5.24 (4.55-6.03) for offspring, 5.07 (4.41-5.81) for parents, and 2.07 (1.53-2.81) for spouses. The estimated genetic, common environmental, and nonshared environmental contributions to NMTC were 28.0%, 14.3%, and 57.7%, respectively. A family history of NMTC was associated with higher risks of thyroid nodules (RR, 2.26; 95% CI, 2.18-2.35), Hashimoto thyroiditis (2.11; 1.89-2.36), Graves disease (1.49; 1.42-1.57), lung cancer (1.56; 1.32-1.85), and leukemia and lymphoma (1.24; 1.03-1.50).
Our findings demonstrate the importance of genetic and environmental contributions to NMTC susceptibility and highlight the coaggregation of chronic thyroid diseases and multiple malignancies with NMTC.
本研究旨在评估非髓样甲状腺癌（NMTC）的家族聚集程度，以及 NMTC 患者一级亲属中慢性甲状腺疾病和常见恶性肿瘤的相对风险（RR）。
在台湾全民健康保险研究数据库中，分析了 2016 年所有符合条件的个体（n=23696659），并确定了 1997 年至 2016 年间诊断为 NMTC 的 38686 例患者的家族结构。检查了个体一级亲属中有 NMTC 患者的 NMTC、慢性甲状腺疾病和常见恶性肿瘤的患病率和 RR。使用多基因易感性模型估计遗传和环境因素对 NMTC 易感性的可归因性。
普通人群 NMTC 的患病率为 0.16%，一级亲属中有 NMTC 患者的 NMTC 患病率为 0.64%。在受影响的亲属中，NMTC 的 RR（95%CI）为双胞胎 20.12（4.86-83.29）、兄弟姐妹 6.43（4.80-8.62）、子女 5.24（4.55-6.03）、父母 5.07（4.41-5.81）和配偶 2.07（1.53-2.81）。NMTC 的遗传、共同环境和非共享环境因素的估计贡献分别为 28.0%、14.3%和 57.7%。NMTC 的家族史与甲状腺结节（RR，2.26；95%CI，2.18-2.35）、桥本甲状腺炎（2.11；1.89-2.36）、格雷夫斯病（1.49；1.42-1.57）、肺癌（1.56；1.32-1.85）和白血病和淋巴瘤（1.24；1.03-1.50）的发病风险增加相关。
本研究结果表明遗传和环境因素对 NMTC 易感性的重要性，并强调了慢性甲状腺疾病和多种恶性肿瘤与 NMTC 的共同聚集。
