睾素2(SPOCK2)基因多态性与昆明地区新生儿支气管肺发育不良相关性  

Correlation of SPOCK2 gene polymorphism with bronchopulmonary dysplasia in Kunming infantile population

作　　者：米弘瑛[1,2] 刘凯[1,2] 许小艳[1,2] 顾美琴[1,2] 许小志 米思源[3] MI Hongying;LIU Kai;XU Xiaoyan;GU Meiqin;XU Xiaozhi;MI Siyuan(Department of Pediatrics,First People′s Hospital of Yunnan Province,Kunming 650032,China)

机构地区：[1]云南省第一人民医院儿科,昆明650032 [2]昆明理工大学附属昆华医院儿科,昆明650032 [3]中山大学中山医学院,广州510080

出　　处：《实用医学杂志》2019年第1期117-121,共5页The Journal of Practical Medicine

基　　金：云南省自然科学基金项目[编号:2017FE468(-116)];云南省卫计委内设研究机构项目(编号:2016NS236)

摘　　要：目的探讨睾素2(SPOCK2)基因多态性与昆明地区新生儿支气管肺发育不良(BPD)的相关性。方法选取2017年1-12月在云南省第一人民医院新生儿科住院的早产儿。56例患有BPD的早产儿为BPD组(其中男30例,女26例)。选取同期入住云南省第一人民医院NICU无肺部疾病的早产儿76例作为对照组(其中男30例,女46例)。采用聚合酶链式反应(PCR)对SPOCK2基因多态性位点rs1245560和rs1049269进行检测。结果两组SPOCK2基因型频率均符合Hardy-Weinberg平衡,具有种群代表性。两组均以rs1245560 AC基因型和rs1049269 AG基因型的分布频率最高,但在两组人群中的分布差异均无统计学意义(P=0.249和P=0.060)。基因型分析显示,rs1245560的AA、CC和AC基因型在对照组和BPD组中的分布差异无统计学意义(分别为21.4%vs. 28.9%;17.9%vs. 21.1%;50.0%vs. 60.7%,P>0.05)。rs1049269的AA和GG基因型在两组中分布差异无统计学意义(分别为25.0%vs. 44.7%;32.1%vs.23.7%,均P>0.05);AG基因型在BPD组的分布频率明显高于对照组(42.9%vs.31.6%,P=0.039)。等位基因分析显示,rs1245560 A和C等位基因频率分布差异无统计学意义(48.2%vs. 46.1%,P=0.803);rs1049269 G等位基因频率在BPD组中明显高于对照组(53.6%vs. 39.5%,P=0.025)。结论 SPOCK2基因多态性位点rs1049269AG基因型和G等位基因频率和BPD有关,是BPD发病的高危易感因素。Objective To investigate the relationship between single nucleotide polymorphism(SNP)of SPOCK2 and bronchopulmonary dysplasia(BPD).Methods A total of 76 BPD group and 56 patients without lung disease in control group from 2017.1 to 2017.12 were included in this study.PCR-DNA sequence was applied to detect the genotypes of 2 SNPs(rs1245560 and rs1049269).Results rs1245560:AA,CC and AC genotype frequencies in BPD and control group were 21.4%,17.9%and 60.7%vs.28.9%,21.1%and 50.0%,respectively.Compared with control group,the genotype and allele frequencies were similar in BPD group(P >0.05).rs1245560:AA,GG and AG genotype frequencies in BPD and control group were 25.0%,32.1%and 42.9%vs.44.7%,23.7%and 31.6%,respectively.Compared with control group,the genotype AG frequencies were higher in BPD group(P=0.039).There was no significant difference in the allele C frequencies of rs1245560 between both groups(P=0.803);the allele G frequencies of rs1049269 was higher in BPD group with statistical difference(P=0.025).Conclusions SPOCK2 gene polymorphism rs1049269 in Kunming pediatric population is a susceptibility factor for BPD,the AG genotype and G allele increase the risk of getting BPD.

关 键 词：支气管肺发育不良 睾素2 单核苷酸多态性 易感性 

分 类 号：R722.6[医药卫生—儿科]