School of Psychology, Beijing Sport University, Beijing, China.
Brain Behav. 2023 Nov;13(11):e3238. doi: 10.1002/brb3.3238. Epub 2023 Sep 5.
Patients with autism spectrum disorder (ASD) commonly experience aberrant skin sensation sensitivity; however, the causal relationship is not yet clear. This study uses a bidirectional Mendelian randomization (MR) method to explore the relationship between disturbance of skin sensation (DSS) and ASD.
Single-nucleotide polymorphisms (SNPs) extracted from the summary data of genome-wide association studies were used as genetic instruments. MR was performed using the inverse-variance-weighted method, with alternate methods (e.g., weighted median, MR-Egger, simple mode, weighted mode, and MR-pleiotropy residual sum and outlier) and multiple sensitivity analyses to assess horizontal pleiotropy and remove outliers.
The results of the analysis using six SNPs as genetic instruments showed that the DSS is associated with an increased risk of ASD (odds ratio = 1.126, 95% confidence interval = 1.029-1.132; p = .010). The results of the sensitivity analyses were robust with no evidence of pleiotropy. The reverse MR analyses showed no causal effects of ASD on DSS.
This study's findings suggest that DSS has potential causal effects on ASD, whereas ASD has no effect on DSS. Thus, skin sensitivity may represent a behavioral marker of ASD, by which some populations could be subtyped in the future.
自闭症谱系障碍（ASD）患者通常存在皮肤感觉敏感性异常，但因果关系尚不清楚。本研究采用双向孟德尔随机化（MR）方法探讨皮肤感觉障碍（DSS）与 ASD 之间的关系。
从全基因组关联研究的汇总数据中提取单核苷酸多态性（SNP）作为遗传工具。采用逆方差加权法进行 MR 分析，同时采用替代方法（如加权中位数、MR-Egger、简单模式、加权模式和 MR 多效性残差和异常值）和多种敏感性分析来评估水平多效性并去除异常值。
使用 6 个 SNP 作为遗传工具进行分析的结果表明，DSS 与 ASD 风险增加相关（比值比=1.126，95%置信区间=1.029-1.132；p=0.010）。敏感性分析结果稳健，无明显多效性证据。反向 MR 分析显示 ASD 对 DSS 没有因果影响。
本研究结果表明，DSS 对 ASD 具有潜在的因果影响，而 ASD 对 DSS 没有影响。因此，皮肤敏感性可能是 ASD 的行为标志物，未来可能可以根据皮肤敏感性对某些人群进行亚型划分。
