Objective: To understand the potential parent-of-origin effect (POE) of imprinted gene KCNQ1 on the risk for hypertension by using a family-based design. Methods: Probands and their relatives in 9 rural areas in Fangshan District, Beijing, were included in this study. Mixed-effects model was used to evaluate the association between single nucleotide polymorphisms (SNPs) in the KCNQ1 gene and hypertension. The POE effects were evaluated by adopting log-linear model, and the interactions between POE and environmental factors, including smoking, alcohol consumption, were analyzed by using Wald χ2 test. The POE was assessed by the ratio of maternal relative risk to paternal relative risk (RRm/RRf). Results: A total of 195 SNPs in the KCNQ1 gene were included in the analysis after quality control. The association analysis in 1 261 study participants identified 13 loci in the KCNQ1 gene associated with hypertension (all P<0.05). POE analysis, involving 167 study participants from 54 core families, identified 6 loci that showed possible POE with hypertension (all P<0.05). The most significant locus was rs231879, with an RRm/RRf of 3.46 (95%CI: 1.36-8.57, P=0.009), indicating that the relative risk of inheriting the risk allele from mother was 3.46 times higher than that from father. Analysis on the interactions between POE and environmental exposure revealed that sleep duration might potentially modify the POE of rs170786 (interaction for P=0.023). Conclusion: The imprinted gene KCNQ1 might be associated with the risk for hypertension through POE. 目的： 基于家系设计在印记基因KCNQ1中探索亲源效应对高血压患病风险的影响。 方法： 纳入北京市房山区9个乡镇的先证者及其亲属作为研究对象，采用混合效应模型探索KCNQ1单核苷酸多态性（SNP）与高血压的一般关联，进而构建对数线性模型探索该基因多态性亲源效应与高血压的关联，并通过Wald χ2检验分析亲源效应与吸烟、饮酒等环境因素交互作用对高血压患病风险的影响。采用母源性相对危险度与父源性相对危险度之比（RRm/RRf）评估亲源效应的大小。 结果： 质量控制后纳入该基因的195个SNP进行分析。关联分析纳入1 261名研究对象，发现13个SNP位点与高血压存在潜在关联（均P<0.05）。亲源效应分析纳入54个核心家系的167名研究对象，发现rs231879、rs231906等6个SNP位点与高血压之间可能存在亲源效应（均P<0.05），其中最显著位点为rs231879，RRm/RRf=3.46（95%CI：1.36~8.57，P=0.009），表示该位点从母亲传递等位基因的相对危险度是从父亲传递相对危险度的3.46倍。亲源效应与环境交互作用分析发现，睡眠持续时间可能对rs170786位点的亲源效应存在潜在效应修饰作用（交互P=0.023）。 结论： KCNQ1可能通过亲源效应与高血压患病风险存在关联。.