Department of Neurology, The Third Affiliated Hospital of Soochow University, Changzhou, China.
Department of Geriatrics, The Third Affiliated Hospital of Soochow University, Changzhou, China.
Parkinsonism Relat Disord. 2022 Apr;97:34-38. doi: 10.1016/j.parkreldis.2022.02.013. Epub 2022 Mar 5.
Smoking and alcohol consumption have been associated with earlier age at onset (AAO) of Huntington's disease (HD) in observational studies. We conducted this Mendelian randomization (MR) study to evaluate whether these associations are causal.
We selected genetic instruments for lifetime smoking (n = 462,690) and alcohol consumption (n = 941,280) based on two large genome-wide association studies (GWAS). The summary-level data for residual AAO of HD were derived from a GWAS meta-analysis carried out by the Genetic Modifiers of Huntington's disease Consortium (n = 9,064 HD patients). We conducted univariable and multivariable MR analyses to evaluate the independent impact of smoking and alcohol consumption on AAO of HD.
Genetically predicted lifetime smoking was causally related to an earlier AAO of HD in the univariable MR analyses (β = -2.16 years per standard deviation (SD) increase in lifetime smoking index, 95% confidence interval (CI) = -3.70 to -0.63, P = 0.006). This association persisted significant in the multivariable MR analyses after adjusting for alcohol consumption (β = -2.04 years per SD increase in lifetime smoking index, 95% CI = -3.85 to -0.22, P = 0.028). However, no significant association was found between alcohol consumption and AAO of HD.
This study suggests that genetically predicted smoking is causally related to an earlier AAO of HD.
在观察性研究中,吸烟和饮酒与亨廷顿病(HD)的发病年龄较早(AAO)有关。我们进行了这项孟德尔随机化(MR)研究,以评估这些关联是否具有因果关系。
我们根据两项大型全基因组关联研究(GWAS),选择了终生吸烟(n=462690)和饮酒(n=941280)的遗传工具。HD 残留 AAO 的汇总水平数据来自由亨廷顿病遗传修饰物联盟(Genetic Modifiers of Huntington's disease Consortium)进行的 GWAS 荟萃分析(n=9064 名 HD 患者)。我们进行了单变量和多变量 MR 分析,以评估吸烟和饮酒对 HD AAO 的独立影响。
在单变量 MR 分析中,遗传预测的终生吸烟与 HD 的 AAO 较早有关(β=-2.16 岁/终生吸烟指数标准差增加,95%置信区间(CI)=-3.70 至-0.63,P=0.006)。在调整饮酒因素后,多变量 MR 分析中该关联仍然显著(β=-2.04 岁/终生吸烟指数标准差增加,95%CI=-3.85 至-0.22,P=0.028)。然而,饮酒与 HD 的 AAO 之间没有显著关联。
本研究表明,遗传预测的吸烟与 HD 的 AAO 较早有关,这具有因果关系。