Lai Florence, Mercaldo Nathaniel D, Wang Cassandra M, Hersch Micaela S, Hersch Giovi G, Rosas Herminia Diana
Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Massachusetts General Hospital, Charlestown, MA 02129, USA.
Brain Sci. 2021 Sep 16;11(9):1223. doi: 10.3390/brainsci11091223.
Adults with Down syndrome (DS) have an exceptionally high frequency of Alzheimer disease (AD) with a wide variability in onset, from 40 to 70 years of age. Equally prevalent in DS is hypothyroidism. In this study, we sought to quantify the relationship between the two. A total of 232 adults with DS and AD were stratified into three AD onset age groups: early (<47 years), typical (48-59), and late (>59). Among patients with available data, differences in the distributions of demographics, hypothyroidism variables (presence, age of onset), thyroid function tests, thyroid autoantibodies, and APOE genotypes were assessed (e.g., chi-squared, Mann-Whitney tests). Spearman and partial Spearman correlations and ordinal logistic regression models were constructed to quantify the association between ages of AD and hypothyroidism onset with and without covariate adjustments. We observed a positive association between the ages of AD and hypothyroidism onset after accounting for APOE-Ɛ4 (correlation: 0.44, 0.24, 0.60; odds ratio: 1.09, 1.05-1.14). However, an early age of hypothyroidism onset and the presence of the APOE-Ɛ4 allele were independently associated with the early age of AD onset. Similar findings were observed when accounting for other factors. Our study provides evidence for the importance of hypothyroidism and associated pathological mechanisms for risk of AD in DS.
患有唐氏综合征(DS)的成年人患阿尔茨海默病(AD)的频率异常高,发病年龄差异很大,从40岁到70岁不等。甲状腺功能减退症在DS中同样普遍。在本研究中,我们试图量化两者之间的关系。共有232名患有DS和AD的成年人被分为三个AD发病年龄组:早期(<47岁)、典型(48 - 59岁)和晚期(>59岁)。在有可用数据的患者中,评估了人口统计学、甲状腺功能减退变量(存在情况、发病年龄)、甲状腺功能测试、甲状腺自身抗体和APOE基因型分布的差异(例如,卡方检验、曼 - 惠特尼检验)。构建了Spearman和偏Spearman相关性以及有序逻辑回归模型,以量化在有无协变量调整的情况下AD和甲状腺功能减退症发病年龄之间的关联。在考虑APOE-Ɛ4后,我们观察到AD和甲状腺功能减退症发病年龄之间存在正相关(相关性:0.44、0.24、0.60;优势比:1.09,1.05 - 1.14)。然而,甲状腺功能减退症的早期发病和APOE-Ɛ4等位基因的存在与AD的早期发病独立相关。在考虑其他因素时也观察到了类似的结果。我们的研究为甲状腺功能减退症及其相关病理机制对DS中AD风险的重要性提供了证据。