首页|丝氨酸肽酶抑制因子Kazal型5基因多态性与儿童哮喘易感性及病情相关性研究

丝氨酸肽酶抑制因子Kazal型5基因多态性与儿童哮喘易感性及病情相关性研究

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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。
Correlation between serine protease inhibitor Kazal type gene polymorphism and susceptibility and severity of pediatric asthma
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 trea-ted 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 fre-quency 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.

AsthmaSerine protease inhibitor Kazal type 5 geneSingle nucleotide polymorphismHaplotypeChildren

张林、魏兵、宋俊美、刘宁、曲双双、常艳丽

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辽宁中医药大学,辽宁 沈阳 110847

北部战区总医院 新生儿科,辽宁 沈阳 110016

哮喘 丝氨酸肽酶抑制因子Kazal型5基因 单核苷酸多态性 单倍型 儿童

辽宁省民生科技计划

2021JH2/10300060

2024

临床军医杂志
解放军沈阳军区卫生人员训练基地

临床军医杂志

CSTPCD
影响因子:0.465
ISSN:1671-3826
年,卷(期):2024.52(2)
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