建议年轻的特发性胰腺炎患者进行种系基因检测，但对于 35 岁以上患者的建议尚未达成共识。我们的目的是分析不同年龄受试者的基因检测结果。接受胰腺炎种系多基因检测的个体2017 年至 2022 年间通过大型商业实验室收集的易感基因（CASR、CFTR、CPA1、CTRC、PRSS1、SPINK1）均包括在内。对测试结果和从测试申请表中收集的信息进行了评估。采用多变量逻辑回归模型来确定与胰腺炎相关基因中的阳性胰腺炎组（致病性、可能致病性和/或增加的风险变异）相关的因素。 总体而言，2,468 名受试者有急性胰腺炎 (AP) 主要指征 (n = 401)、慢性胰腺炎 (CP) (n = 631)、胰腺癌 (n = 128) 或其他适应症 (n = 1,308) 已完成种系检测。在 AP 或 CP 患者中，<35 岁与 ≥35 岁患者的任何阳性结果的发生率分别为 32.1% 和 24.5% (p = 0.007)，有临床意义的结果的发生率分别为 10.8% 和 5.4%。分别（p = 0.001）。对于具有临床意义的小组结果，胰腺炎阳性家族史与比值比 (OR) 增加 8.59（95% 置信区间 (CI) 2.92-25.25）相关，而测试完成时年龄每增加 5 岁，比值比 (OR) 就会降低 (OR) 0.89，95% CI 0.83-0.95)。致病性变异的患病率最高出现在有胰腺炎阳性家族史的年轻个体中。然而，在老年受试者中发现了具有临床意义的结果，这表明应考虑对所有年龄组进行遗传咨询和检测。版权所有：© 2024 Ramsey 等人。这是一篇根据知识共享署名许可条款分发的开放获取文章，允许在任何媒体上不受限制地使用、分发和复制，前提是注明原始作者和来源。

Germline genetic testing is recommended for younger patients with idiopathic pancreatitis but there has been a lack of consensus in recommendations for those over age 35. We aimed to analyze the results of genetic testing among subjects of varying ages.Individuals who underwent germline multigene testing for pancreatitis susceptibility genes (CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1) through a large commercial laboratory between 2017 and 2022 were included. Test results and information collected from test requisition forms were evaluated. Multivariable logistic regression models were performed to identify factors associated with a positive pancreatitis panel (pathogenic, likely pathogenic, and/or increased risk variants) in pancreatitis-related genes.Overall, 2,468 subjects with primary indication of acute pancreatitis (AP) (n = 401), chronic pancreatitis (CP) (n = 631), pancreatic cancer (n = 128), or other indications (n = 1,308) completed germline testing. Among patients with AP or CP, the prevalence of any positive result for those <35 versus ≥35 years of age was 32.1% and 24.5% (p = 0.007), and the prevalence of a clinically meaningful result was 10.8% and 5.4%, respectively (p = 0.001). Positive family history of pancreatitis was associated with increased odds ratio (OR) of 8.59 (95% confidence interval (CI) 2.92-25.25) for a clinically significant panel result while each 5-year increase in age at test completion had lower odds (OR 0.89, 95% CI 0.83-0.95).The highest prevalence of pathogenic variants is seen in younger individuals with a positive family history of pancreatitis. However, clinically meaningful results are identified in older subjects, suggesting that genetic counseling and testing should be considered for all age groups.Copyright: © 2024 Ramsey et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.