自闭症谱系障碍与炎症性肠病之间的因果关系:双向孟德尔随机化研究

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-10-01 DOI:10.1002/ajmg.b.33012
Weilin Li, Xiaoyu He, Chao Tan, Tao Zhang
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引用次数: 0

摘要

在观察性研究中,自闭症谱系障碍(ASD)患者通常伴有炎症性肠病(IBD);然而,这两种疾病之间的潜在因果关系仍然未知。在这项研究中,我们采用了双样本双向孟德尔随机化(MR)方法来评估 ASD 与 IBD 及其主要亚型克罗恩病(CD)和溃疡性结肠炎(UC)之间的因果关系。IBD全基因组关联研究(GWAS)的独立遗传工具(25,042例病例和34,915例对照)被用来研究IBD与ASD的关联,这些数据来自PGC和iPSYCH联盟(N = 46,351)。主要分析采用随机效应逆方差加权法(IVW)。IVW 方法表明,IBD 与 ASD 存在正向因果关系(比值比 (OR) = 1.028,95% 置信区间 (CI) = 1.001-1.056,P = 0.042)。在亚型分析中,CD 与 ASD 呈正相关(OR = 1.036;95% CI = 1.004-1.069;p = 0.02);但 UC 与 ASD 没有关系(OR = 1.021;95% CI = 0.999-1.044;p = 0.065)。相比之下,没有证据表明 ASD 与 IBD 或其亚型之间存在因果关系(p > 0.05)。我们的研究结果为 IBD/CD 与 ASD 之间的潜在因果关系提供了证据支持。
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Causal Relationship Between Autism Spectrum Disorder and Inflammatory Bowel Disease: A Bidirectional Mendelian Randomization Study.

Patients with autism spectrum disorder (ASD) are often accompanied by inflammatory bowel disease (IBD) in observational research; however, the potential causal link between the two conditions remains unknown. In this study, we used a two-sample bidirectional Mendelian randomization (MR) approach to assess the causal relationship between ASD and IBD and its main subtypes, Crohn's disease (CD), and ulcerative colitis (UC). Independent genetic instruments from a genome-wide association study (GWAS) for IBD (25,042 cases and 34,915 controls) were used to investigate the association of IBD with ASD data obtained from the PGC and the iPSYCH consortia (N = 46,351). The primary analysis employed the random effects inverse variance weighting (IVW) method. Horizontal pleiotropy was detected using the MR Egger regression and the MR-pleiotropy residual sum and outlier (MR-PRESSO) analysis while heterogeneity was detected using Cochran's Q. The IVW method indicated a positive causal relationship of IBD with ASD (odds ratio (OR) = 1.028, 95% confidence interval (CI) = 1.001-1.056, p = 0.042). In subtype analyses, CD was positively related to ASD (OR = 1.036; 95% CI = 1.004-1.069; p = 0.02); however, UC showed no relationship (OR = 1.021; 95% CI = 0.999-1.044; p = 0.065). In contrast, no evidence of a causal relationship between ASD and IBD or its subtypes (p > 0.05) was found. Our findings provided evidence in support of potential causal associations between IBD/CD and ASD.

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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
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