CAJ | 학술논문

目的探讨IL-4、IL-13单核苷酸多态性(single nucleotide polymorphisms,SNPs)与中国东南方汉族人群支气管哮喘(简称哮喘)发病危险性和哮喘相关表型的关系.方法挑选位于IL-4起动子区SNPs rs2243250(-589T/C),IL-13第四外显子区的非同义突变SNPs rs20541 (+2044C/T)和启动子区SNPs rs1800925(-1112C＞T).连续性招募哮喘患者318例,正常对照352例.采用多重PCR结合标签阵列单碱基延伸技术进行基因分型.通过病例——对照研究分析这些位点与哮喘及哮喘表型的关系.结果 IL-4 rs2243250、IL-13 rs20541、rs1800925的等位基因及基因型分布频率在哮喘组与对照组差异无统计学意义(P＞0.05),该3个位点共生成8种主要单倍型,在哮喘组和对照组中的分布亦无统计学差异,该3个位点SNPs与哮喘发病危险度无相关性.该3个位点SNPs与哮喘患者的外周血嗜酸粒细胞、肺功能、超敏C反应蛋白(hsCRP)、血浆总IgE、哮喘严重度分级均无相关性.结论 IL-4、IL-13 SNPs与哮喘发病危险性和哮喘相关表型无相关性.
목적 탐토IL-4、IL-13단핵감산다태성(single nucleotide polymorphisms,SNPs)여중국동남방한족인군지기관효천(간칭효천)발병위험성화효천상관표형적관계.방법 도선위우IL-4기동자구SNPs rs2243250(-589T/C),IL-13제사외현자구적비동의돌변SNPs rs20541 (+2044C/T)화계동자구SNPs rs1800925(-1112C＞T).련속성초모효천환자318례,정상대조352례.채용다중PCR결합표첨진렬단감기연신기술진행기인분형.통과병례——대조연구분석저사위점여효천급효천표형적관계.결과 IL-4 rs2243250、IL-13 rs20541、rs1800925적등위기인급기인형분포빈솔재효천조여대조조차이무통계학의의(P＞0.05),해3개위점공생성8충주요단배형,재효천조화대조조중적분포역무통계학차이,해3개위점SNPs여효천발병위험도무상관성.해3개위점SNPs여효천환자적외주혈기산립세포、폐공능、초민C반응단백(hsCRP)、혈장총IgE、효천엄중도분급균무상관성.결론 IL-4、IL-13 SNPs여효천발병위험성화효천상관표형무상관성.
Objective To evaluate the effects of interleukin (IL)-4 and IL-13 single nucleotide polymorphisms (SNPs) on asthma risk and asthma-related phenotypes in a southeastern Chinese Han Population.Methods rs2243250 located in the promoter region of IL-4 gene,rs20541 and rs1800925 located in the fourth cxon and promoter region of IL-13 gene respectively,were selected.We consecutively recruited 318 unrelated adult asthmatic patients and 352 healthy volunteers from the same area of southeast China.Genotyping of the selected SNPs was performed using multiplex PCR in conjunction with tagged array single base extension technology.We conducted case-control association studies between the selected SNP and asthma or asthma-related phenotypes.Results There seemed to be similar allele/genotype distributions of IL-4 rs2243250,IL-13 rs20541 and IL-13 rs1800925 SNPs between controls and cases (P＞ 0.05).Haplotypes were reconstructed incorporating all three SNPs,namely,rs2243250,rs20541 and rs1800925 in order,and eight haplotypes were generated.No significant difference of the distributions of haplotypes was observed between cases and controls.The polymorphisms of the three sites were not associated with the susceptibility of asthma.Also,no association was found between the SNPs and eosinophil counts,lung function,serum levels of high-sensitivity C reactive protein (hs-CRP),total serum IgE levels or asthma severity.Conclusions IL-4 and IL-13 polymorphisms were not associated with the susceptibility of asthma and asthma related phenotypes.