肺表面活性蛋白D基因多态性与RSV毛细支气管炎的关系

目的探讨杭州地区肺表面活性蛋白（surfactant protein,SP）-D基因变异是否与儿童呼吸道合胞病毒（respiratory syncytial virus,RSV）毛细支气管炎易感性有关。方法采用MGB测序法检测150例RSV毛细支气管炎和150例健康对照组SP-D基因2个位点的多态性,并进行基因型、等位基因型频率分析。各组的基因型、等位基因型频率比较采用χ2检验。结果病例组SP-D Met11Thr位点TT、CT、CC三种基因型频率分别为7.3%、44.0%、48.7%,T、C等位基因频率分别为29.3%、70.7%。三种基因型及等位基因频率与对照组比较差异有统计学意义（χ^2=6.751、5.823,P〈0.05）。SP-D Ala160Thr位点AA、GA、GG三种基因型频率分别为4.0%、29.3%、66.7%,A、G等位基因频率分别为18.7%、71.3%,2组基因型及等位基因频率与对照组比较无统计学意义（χ^2=0.182、0.181,P〉0.05）;但该位点A、G等位基因在轻中度和重度患儿间的差异有统计学意义（χ^2=3.954,P〈0.05）,携带A等位基因的个体患重度RSV毛细支气管炎的风险升高。结论杭州地区汉族儿童存在SP-D基因多态性,SP-DMet11Thr位点与RSV毛细支气管炎疾病易感性存在关联,C等位基因可能是易感基因;而SP-D Ala160Thr位点与RSV毛细支气管炎疾病易感性未存在关联。SP-D Ala160Thr等位基因A可能是影响RSV毛细支气管炎严重程度的一个候选基因。

Gene polymorphism of surfactant protein D and respiratory syncytial virus bronchiolitis

Objective To analyze the genetic polymorphisms of surfactant protein D（ SP-D） and to investigate the association between polymorphisms of SP-D and respiratory syncytial virus（ RSV） bronchiolitis in Han racial in Hangzhou.Methods Genotyping of SP-D polymorphisms was performed by polymerase chain reaction and TaqMan MGB probe at two genetic loci in 150 cases of RSV bronchitis（ case group） and 150 healthy children（ control group）; The genotype frequencies and allele frequencies were analyzed simultaneously. Chi-square test was employed to compare the difference between the two groups. Results The frequencies of TT,TC,CC of SP-D Met11 Thr were 7. 3%,44. 0% and 48. 7%,respectively; the allele frequencies of T and C were 29. 3% and 70. 7%,respectively. The difference in the genotypes and allele frequencies were significant between the two groups（ χ^2= 6. 751 and χ^2= 5. 823,P〈0. 05）. The frequencies of AA,GA,GG of SP-D Ala160 Thr were 4. 0%,29. 3% and 66. 7 %,respectively,the allele frequencies of A and G were18. 7% and 71. 3%,respectively. The difference in the genotypes and allele frequencies were not significant between the two groups（ χ^2= 0. 182 and χ^2= 0. 181,P〉 0. 05）; but the difference in allele frequencies of A and G at this genetic loci was found in patients with moderate and severe RSV bronchiolitis（ χ^2= 3. 954,P〈0. 05）. The allele A carriers were with a higher risk of severe RSV bronchiolitis. Conclusion SP-D Met11 Thr and SP-D Ala160 Thr gene polymorphisms are both present in Han children in Hangzhou area,Polymorphisms of SP-D Met11 Thr display significant association with RSV bronchiolitis. C allele may be a susceptible gene. Polymorphisms of SP-D Ala160 Thr do not correlated with RSV,but the frequency of A allele is significantly increased in severe group,which suggest A allele of SP-D Ala160 Thr might be an candidate gene for the severity of RSV bronchiolitis.