摘要
目的探讨丝氨酸肽酶抑制因子Kazal型5(SPINK5)基因单核苷酸多态性(SNP)与儿童哮喘易感性及病情的关系。方法选取自2020年9月至2022年9月于北部战区总医院就诊的86例哮喘患儿设为哮喘组,再根据哮喘组患儿哮喘的严重程度将其分为轻度组(n=18)、中度组(n=32)及重度组(n=36);另选取同期在该医院体检的66例健康儿童设为健康组。应用imLDR多重单核苷酸多态性(SNP)分型技术,分析SPINK5基因rs17704908、rs2303067、rs3777134、rs4349706和rs6892205这5个位点的SNP、单倍型与儿童哮喘易感性及病情严重程度的关系。结果健康组和哮喘组SPINK5基因5个位点基因型频率和等位基因频率比较,差异均无统计学意义(P>0.05);轻、中、重度组SPINK5基因5个位点基因型及等位基因频率比较,差异均无统计学意义(P>0.05)。连锁不平衡分析结果显示,rs6892205与rs2303067、rs3777134、rs17704908和rs4349706四处位点有强连锁性,同时,rs2303067与rs3777134、rs17704908和rs4349706存在强连锁性。哮喘组和健康组的ACCGA、GTTAG、GTTAA、ACCGG、GCCGG和ATTAA这6种单倍型的频率分布比较,差异均有统计学意义(P=0.04);单倍型GTTAG罹患哮喘的风险比值比为2.20,95%可信区间1.03~4.70,差异有统计学意义(P<0.05);哮喘轻、中、重度组的6种单倍型频率分布比较,差异均无统计学意义(P>0.05)。结论SPINK5基因rs17704908、rs2303067、rs3777134、rs4349706和rs6892205位点SNP与儿童哮喘的易感性及病情无相关性,其构成的单倍型GTTAG是儿童罹患哮喘的高危因素。
Objective To investigate the relationship between serine protease inhibitor Kazal type 5(SPINK5)gene single nucleotide polymorphism(SNP)and susceptibility and disease of asthma in children.Methods A total of 86 children with asthma who were treated in General Hospital of Northern Theater Command from September 2020 to September 2022 were selected as asthma group,and then divided into mild group(n=18),moderate group(n=32)and severe group(n=36)according to the severity of asthma.Another 66 healthy children who underwent physical examination in the same period were selected as the healthy group.Using imLDR multiple single nucleotide polymorphism(SNP)typing technique,the relationship between SNP and haplotype of rs17704908,rs2303067,rs3777134,rs4349706 and rs6892205 in SPINK5 gene and susceptibility and severity of asthma in children was analyzed.Results There was no significant difference in genotype frequency and allele frequency of SPINK5 gene at 5 loci between healthy group and asthma group(P>0.05).There was no significant difference in genotype and allele frequency of 5 loci of SPINK5 gene in mild,moderate and severe groups(P>0.05).Linkage disequilibrium analysis showed that rs6892205 had strong linkage with rs2303067,rs3777134,rs17704908 and rs4349706.rs2303067 has strong linkage with rs3777134,rs17704908 and rs4349706.The frequency distribution of 6 haplotypes of ACCGA,GTTAG,GTTAA,ACCGG,GCCGG and ATTAA were statistically significant between the asthma group and the healthy group(P=0.04).The odds ratio of haplotype GTTAG for asthma was 2.20,95%confidence interval 1.03-4.70,and the difference was statistically significant(P<0.05).There was no significant difference in the frequency distribution of 6 haplotypes in mild,moderate and severe asthma groups(P>0.05).Conclusion The SNPS of rs17704908,rs2303067,rs3777134,rs4349706 and rs6892205 in SPINK5 gene have no correlation with susceptibility and disease of childhood asthma.The haplotype GTTAG formed by SPINK5 gene is a high risk factor for asthma in children.
作者
张林
魏兵
宋俊美
刘宁
曲双双
常艳丽
ZHANG Lin;WEI Bing;SONG Jun-mei;LIU Ning;QU Shuang-shuang;CHANG Yan-li(Liaoning University of Traditional Chinese Medicine,Shenyang 110847,China;Department of Neonatology,General Hospital of Northern Theater Command,Shenyang 110016,China)
出处
《临床军医杂志》
CAS
2024年第2期148-152,共5页
Clinical Journal of Medical Officers
基金
辽宁省民生科技计划(2021JH2/10300060)。
