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目的探讨肺表面活性蛋白(SP)-A1-1101C/T和SP-A2-1649G/C位点基因多态性与呼吸道合胞病毒下呼吸道感染(RSV-LRTI)的相关性。方法应用聚合酶链反应-限制性酶切片段长度多态性(PCR-RFLP)分析法检测200例病例组和150例健康对照组2个位点的基因多态性,并进行基因型、等位基因型频率分析;采用DNA测序法进行测序分析。结果 1.病例组SP-A1-1101C/T位点TT、CT基因型频率分别为76.0%、24.0%,T、C等位基因频率分别为88.0%、12.0%;对照组TT、CT基因型频率分别为80.7%、19.3%,T、C等位基因频率分别为90.3%、9.7%,两组基因型及等位基因频率差异无统计学意义(χ2=1.088、0.953,P>0.05)。2.病例组SP-A2-1649G/C位点CC、CG、GG基因型频率分别为41.5%、50.5%、8.0%,C、G等位基因频率分别为66.8%、33.2%;对照组CC、CG、GG基因型频率分别为43.3%、49.3%、7.4%,C、G等位基因频率分别为68.0%、32.0%,两组基因型及等位基因频率无统计学意义(χ2=0.141、0.122,P>0.05);但该位点基因型和等位基因在轻度和重度患儿间的差异有统计学意义(χ2=6.664、5.207,P<0.05),携带G等位基因的个体患重度RSV-LRTI的风险是患轻度风险的1.656倍,(OR=1.656,95%CI:1.072～2.559,P=0.023<0.05)。结论温州地区汉族儿童存在SP-A1-1101C/T、SP-A2-1649G/C基因多态性,未发现其与RSV-LRTI疾病易感性存在关联,但携带SP-A2-1649G等位基因的个体患重度RSV-LRTI的风险是患轻度风险的1.656倍,表明G等位基因可能是影响RSV-LRTI疾病严重程度的一个候选基因。
Objective To investigate the association between SP-A1-1101C / T and SP-A2-1649G / C gene polymorphisms and respiratory syncytial virus (RSV-LRTI) infection. Methods The polymorphisms of two loci in 200 cases and 150 healthy controls were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and genotypes were determined Bit genotype frequency analysis; sequencing by DNA sequencing. The frequencies of TT and CT genotypes in SP-A1-1101C / T locus were 76.0% and 24.0%, respectively, and the frequencies of T and C alleles were 88.0% and 12.0% respectively in the case group. TT and CT genotypes The frequencies of T and C alleles were 80.7% and 19.3%, respectively. The frequencies of T and C alleles were 90.3% and 9.7% respectively. There was no significant difference in genotype and allele frequencies between the two groups (χ2 = 1.088,0.953, P> 0.05). The frequencies of CC, CG and GG genotypes in SP-A2-1649G / C locus were 41.5%, 50.5% and 8.0%, respectively. The frequencies of C and G alleles were 66.8% and 33.2% respectively in control group CC The frequencies of genotypes of CG and GG were 43.3%, 49.3% and 7.4%, respectively. The frequencies of C and G alleles were 68.0% and 32.0%, respectively. There was no significant difference in genotype and allele frequencies between the two groups (χ2 = 0.141 , 0.122, P> 0.05). However, the genotypes and alleles of this locus were significantly different between mild and severe children (χ2 = 6.664,5.207, P <0.05) The individual was at a 1.656-fold greater risk of having severe RSV-LRTI (OR = 1.656, 95% CI: 1.072-2.559, P = 0.023 <0.05). Conclusions There is a association between SP-A1-1101C / T and SP-A2-1649G / C polymorphisms in Han children in Wenzhou area and no association with susceptibility to RSV-LRTI disease. However, the allele of SP-A2-1649G allele The individual is at a 1.656-fold risk of having severe RSV-LRTI, indicating that the G allele may be a candidate gene that affects the severity of RSV-LRTI disease.