LTC4S rs730012基因多态性与东北儿童哮喘关系研究

Association of LTCAS gene rs730012 single nucleotide polymorphism with childhood asthma

目的研究白三烯C4合成酶（LTC4S）基因rs730012单核苷酸多态性（SNP）与儿童哮喘关系。方法选取东北地区105例哮喘患儿为病例组，128例非哮喘患儿为对照组，应用聚合酶链反应（PCR）及测序法对研究对象LTC4Srs730012位点基因分型，分析该位点基因多态性与哮喘遗传易感性及临床特征关系。结果（1）病例组LTC4Srs730012位点A／A、A／C、C／C基因型频率分别为71．4％、25．7％、2．9％，A、C等位基因频率分别为84．3％、15．7％：对照组A／A、A／C、C／C基因型频率分别为70．3％、28．9％、0．8％，A、C等位基因频率分别为84．8％、15．2％。病例组基因型与等位基因频率与对照组无明显差异（X2=0．035、0．020，P均〉0．05）；（2）中重度组A／C、C／C基因型频率及C等位基因频率均明显高于轻度组，差异具有统计学意义（X2=5．859、5．641，P均〈0．05）；（3）A／A型SaO：较A／C、C／C型高，差异具有明显统计学意义（t=2．976，P〈0．05），FeNO值及阻塞性通气障碍发生率均较A／C、C／C型低，差异均有统计学意义（t=-2．946、r=5．564，P均〈0．05）。结论LTC4Srs730012位点SNP与中国东北地区哮喘患儿是否发病无关，但与哮喘发病时严重程度有关，与FeNO值、肺功能指标、SaO：等临床指标有关。

Objective To investigate the association between the single nucleotide polymorphism （SNP） of leukotriene C4 synthase （LTC4S） rs730012 in the childhood asthma. Methods Sequence specific pdmers-polymerase chain reaction was used to assess the genetic polymorphism of LTC4S rs730012 in 105 asth- ma children with different order of severity and 128 non-asthma children in our hospital in the northeast of China to analyse the association between the SNP of LTC4S rs730012 and susceptibility, clinical phenotype in asthma children. Results （1）In case group, genotype frequencies of A/C, A/A and C/C were 71.4% ~25.7% 2.9% ,allele frequencies for A,C were 84. 3% ,15.7%. In control group,the genotype frequencies of A/A,A/ C, C/C, were 70. 3 %, 28.9 %, 0. 8 %, allele frequencies for A, C were 84. 8 %, 15.2 %. No significant difference was found in AA genotype and C allele frequencies between case and control group（x2 = 0. 035 ~0. 020 ,P both 〉 0. 05 ）. （2）C/C genotype or C allele frequencies in moderate-severe asthma group were significantly higher than the mild asthma group（x2 = 5.859,5.641, P both 〈 0.05 ） ; （ 3 ） SaO2 of A/A group was significantly higher than A/C and C/C group （ t = 2. 976, Pboth 〈 0. 05 ）, and FeNO and obstructive ventilatory disorder incidence rate in A/C, C/C group were higher than A/A group, the differences were statistically significant （ t = 2. 946.X2 = 5. 564,P both 〈 0. 05）. Conclusion The SNP of LTC4S rs730012 is associated with the order of severity, SaO2 ,FeNO,pulmonary function in asthma children of northeast China. However,the rs730012 is not associated with the susceptibility for asthma.