南方医科大学学报

南方医科大学学报 ›› 2016, Vol. 36 ›› Issue (07): 1004-.

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表面活性蛋白-D rs3088308、rs721917位点基因多态性与矽肺易感性的关系

吴传文，张秀峰，刘微，王宏丽，郝小惠，郭志义，郭灵丽，刘和亮   

  • 出版日期:2016-07-20 发布日期:2016-07-20

Association of surfactant protein D gene polymorphisms at rs3088308 and rs721917 with susceptibility to silicosis

  • Online:2016-07-20 Published:2016-07-20

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摘要： 目的探讨表面活性蛋白-D rs3088308与rs721917位点基因多态性与河南地区某铁矿男性接尘作业人员矽肺易感性的关 系。方法采用1∶1配对病例-对照研究方法，以确诊的125例矽肺病人为病例组，以健康接尘工人为对照组，按同年龄、同性别、 同工种、相同累积接尘工龄进行配对，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测表面活性蛋白-D基因 rs3088308与rs721917两位点基因型。结果SP-D rs3088308位点病例组T/T、T/A、A/A基因型频率分别为22.2%、71.2%、5.6%， T、A等位基因频率分别为58.8%、41.2%，对照组T/T、T/A、A/A基因型频率分别为17.6%、58.4%、24.0%，T、A等位基因频率分别 为46.8%、53.2%，两组间基因型与等位基因频率分布的差异均有统计学意义（P<0.05），且病例组T/T、T/A基因型以及T等位基 因频率均明显高于对照组，但rs721917 位点基因型与等位基因频率在两组间分布的差异均无统计学意义（P>0.05）。结论 SP-D rs3088308位点基因多态性可能与矽肺易感性有关联，而rs721917位点基因多态性可能与矽肺易感性无关。

Abstract: Objective To investigate the relationship between polymorphisms of surfactant protein D (rs3088308 and rs721917) and the susceptibility to silicosis. Methods This case-control study included 125 silicosis patients and 125 individuals exposed to industrial dust but without silicosis (control group), who were strictly matched with the case group for age, gender, work type and cumulative length of dust exposure. The rs3088308 and rs721917 polymorphisms of surfactant protein-D were detected in all the participants using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The frequencies of T/T, T/A and A/A genotypes of surfactant protein-D rs3088308 locus were 22.2%, 71.2% and 5.6% in the case group, significantly different from the frequencies of 17.6%, 58.4% and 24.0% in the control group, respectively (P< 0.05). The frequencies of C/C, C/T and T/T genotypes of rs721917 locus were 17.6%, 56.8% and 25.6% in the case group, similar to the frequencies of 15.2%, 60.0% and 24.8% in the control group, respectively (P>0.05). Conclusion Surfactant protein-D rs3088308 polymorphism is significantly associated with silicosis, and the T allele may be a risk factor for silicosis in individuals exposed to industrial dust.