Evidence linking parental inflammatory bowel disease (IBD) with autism in children is inconclusive. We conducted four complementary studies to investigate associations between parental IBD and autism in children, and elucidated their underlying etiology. Conducting a nationwide population-based cohort study using Swedish registers, we found evidence of associations between parental diagnoses of IBD and autism in children. Polygenic risk score analyses of the Avon Longitudinal Study of Parents and Children suggested associations between maternal genetic liability to IBD and autistic traits in children. Two-sample Mendelian randomization analyses provided evidence of a potential causal effect of genetic liability to IBD, especially ulcerative colitis, on autism. Linkage disequilibrium score regression did not indicate a genetic correlation between IBD and autism. Triangulating evidence from these four complementary approaches, we found evidence of a potential causal link between parental, particularly maternal, IBD and autism in children. Perinatal immune dysregulation, micronutrient malabsorption and anemia may be implicated.

将父母炎症性肠病（IBD）与儿童自闭症联系起来的证据尚无定论。我们进行了四项补充研究来调查父母 IBD 与儿童自闭症之间的关联，并阐明其潜在病因。我们使用瑞典登记册进行了一项全国范围内的人群队列研究，发现了父母诊断的 IBD 与儿童自闭症之间存在关联的证据。雅芳父母和儿童纵向研究的多基因风险评分分析表明，母亲对 IBD 的遗传倾向与儿童自闭症特征之间存在关联。两个样本孟德尔随机化分析提供了 IBD（尤其是溃疡性结肠炎）遗传倾向对自闭症的潜在因果影响的证据。连锁不平衡评分回归并未表明 IBD 和自闭症之间存在遗传相关性。通过对这四种互补方法的证据进行三角测量，我们发现了父母（尤其是母亲）IBD 与儿童自闭症之间存在潜在因果关系的证据。围产期免疫失调、微量营养素吸收不良和贫血可能与此有关。