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目的:探索表皮生长因子（epidermal growth factor，EGF）rs2237051及过氧化物酶增殖物激活受体-α（peroxidase proliferators activate receptor-α，PPAR-α）rs4253623基因多态性与广泛型侵袭性牙周炎（generalized aggressive periodontitis，GAgP）易感性的相关性及其交互作用，为筛选GAgP的高危人群提供遗传学依据。方法:纳入219例于2001年1月至2015年12月在北京大学口腔医学院·口腔医院就诊的GAgP患者（GAgP组）和138名年龄、性别匹配的全身及牙周健康的北京大学口腔医学院·口腔医院职工和学生作为健康对照者（对照组），采用基于基质辅助激光解吸电离飞行时间质谱技术进行EGF rs2237051及PPAR-α rs4253623基因型检测，使用多重逻辑回归模型分析不同基因型与GAgP易感性的关系，采用似然比检验对两个基因多态性位点在GAgP易感性方面是否存在交互作用进行分析，交互作用模型采用相乘模型。结果:GAgP组年龄为（27.3±4.5）岁，男性87例，女性132例；对照组年龄为（27.1±4.2）岁，男性53人，女性85人，两组人群年龄、性别构成比差异均无统计学意义（n P>0.05）。EGF rs2237051位点中，AA基因型频率在GAgP组[49.5%（107/216）]显著高于对照组[37.7%（52/138）]，AG/GG基因型频率在GAgP组[50.5%（109/216）]显著低于对照组[62.3%（86/138）]（n P<0.05）。调整年龄、性别后，与AA基因型相比，AG/GG基因型个体患GAgP风险显著降低39%（n OR：0.61，95n %CI：0.40~0.95，n P<0.05）。PPAR-α rs4253623位点中，AA基因型频率在GAgP组[76.2%（160/210）]显著高于对照组[65.9%（81/123）]，AG/GG基因型频率在GAgP组[23.8%（50/210）]显著低于对照组[34.1%（42/123）]（n P<0.05）。调整年龄、性别后，与AA基因型相比，AG/GG基因型个体患GAgP风险显著降低40%（n OR：0.60，95n %CI：0.36~0.98，n P<0.05）。EGF rs2237051及PPAR-α rs4253623在GAgP易感性方面存在显著交互作用，两个位点均为AG/GG基因型个体与均为AA基因型的个体相比，患GAgP风险降低66%（n OR：0.34，95n %CI：0.17~0.66，n P<0.01）。n 结论:EGF rs2237051及PPAR-α rs4253623位点与GAgP易感性相关，两者在GAgP易感性方面存在显著交互作用，两个位点中等位基因G在GAgP患病方面具有保护作用。“,”Objective:To explore the correlation and interaction between epidermal growth factor (EGF) rs2237051 and peroxidase proliferators activate receptor-α (PPAR-α) rs4253623 polymorphisms and the susceptibility of generalized aggressive periodontitis (GAgP).Methods:Two hundred and nineteen Chinese patients with GAgP were enrolled from the patients of the Department of Periodontology, Peking University School and Hospital of Stomatology from January 2001 to December 2015. The control group comprised 138 periodontally healthy volunteers recruited from the staff and students of the Peking University School and Hospital of Stomatology. The EGF rs2237051 and PPAR-α rs4253623 polymorphisms were genotyped using time-of-flight mass spectrometry. Logistic regression models were conducted to analyze the correlation between the EGF rs2237051 and PPAR-α rs4253623 variants with GAgP. The likelihood ratio test was used to analyze whether there was an interaction between the two polymorphisms in the susceptibility of GAgP. The interaction model adopted was the multiplication model.Results:The mean ages of GAgP group (male:87; female:132) and control group (male: 53; female: 85) were (27.3±4.5) years and (27.1±4.2) years respectively and there was no significant difference in age and gender distribution between the two groups. For EGF rs2237051, the frequency of AA genotype in the GAgP group [49.5% (107/216)] was significantly higher than that in the control group [37.7% (52/138)], and the frequency of AG/GG genotype in the GAgP group [50.5% (109/216)] was significantly lower than that in the control group [62.3% (86/138)](n P<0.05). Compared with AA genotype, individuals with AG/GG genotype had a 39% lower risk of GAgP after adjustment of age and gender (n OR: 0.61, 95n %CI: 0.40-0.95, n P<0.05). For PPAR-α rs4253623, the frequency of AA genotype in the GAgP group [76.2% (160/210)] was significantly higher than that in the control group [65.9%(81/123)], and the frequency of AG/GG genotype in the GAgP group [23.8% (50/210)] was significantly lower than that in the control group [34.1%(42/123)] (n P<0.05). Compared with AA genotype, individuals with AG/GG genotype had a 40% lower risk of GAgP after adjustment of age and gender (n OR: 0.60, 95n %CI: 0.36-0.98, n P<0.05). EGF rs2237051 and PPAR-α rs4253623 showed a significant interaction in the susceptibility to GAgP. Compared with AA genotype, the risk of GAgP in individuals with both AG/GG genotypes of EGF rs2237051 and PPAR-α rs4253623 was reduced by 66% (n OR: 0.34, 95n %CI: 0.17-0.66, n P<0.01).n Conclusions:EGF rs2237051 and PPAR-α rs4253623 are correlated with GAgP susceptibility, and there is a significant interaction between them in the susceptibility of GAgP. The G allele of the two loci has a protective effect on the disease of GAgP.