摘要
目的探讨COL9A1(IX型胶原α1链)基因多态性在儿童大骨节病(Kashin-beck disease,KBD)发病中的作用。方法 2015年6至8月西安交大医学部公共卫生学院地病所在陕西省麟游县和永寿县大骨节病区收集35例KBD患儿(病例组)和84例健康儿童(对照组)全血,并提取全血基因组DNA,应用Sequenom ass ARRAY RS1000分型技术对COL9A1上15个SNPs基因多态性位点进行基因分型,比较病例组与对照组等位基因和基因型的分布差异。结果关联分析发现rs6910140位点突变型等位基因C的频率在病例组为17.1%(12/70),明显低于对照组的38.1%(64/168)(χ2=11.5,P<0.05);而在位点rs1135056中,突变型等位基因C的频率在病例组为32.9%(23/70),明显高于对照组的17.3%(29/168)(χ2=7.03,P<0.05)。两位点的基因型频率分布在两组儿童中也均存在显著性差异(χ2值分别为12.32和10.79,均P<0.05)。结论 COL9A1基因多态性与儿童KBD的易患性有关,在rs6910140基因上个体携带等位基因C可能与KBD易患性的降低有关,在基因rs1135056上个体携带等位基因C可能与KBD易患性的增加有关。
Objective To investigate the role of txl of type IX collagen gene （COL9A1） in the pathologenesis and progression of Kashin- Beck disease （KBD） in children. Methods Genomic DNA of whole blood was collected from 35 KBD cases （case group） and 84 healthy children （control group） in Linyou County and Yongshou County of Shaanxi Province where faculty of public health of Xi＇ an Jiaotong University was from June to August in 2015. Fifteen SNPs in COL9A1 genotypes were conducted using Sequenom assARRAY RSIO00. The frequencies of alleles and genotypes were compared between two groups. Results The allele frequency of mutant allele C in rs6910140 was 17.1% （12/70） in case group, which was significantly lower than 38.1% （64/168） in control group （X2 = 11.5, P 〈 0.05 ）. But in locus rs1135056, the allele frequency of mutant allele C was 32.9% （23/70） , which was higher than 17.3% （29/168） in control group （X2 =7.03 ,P 〈0.05 ）. The frequencies of the genotype in two loci were significantly different in two groups （X2 value was 12.32 and 10.79, respectively, both P 〈 0.05）. Conclusion Polymorphism of COL9A1 gene is associated with the liability of KBD in children. The subjects carrying allele C in rs6910140 have lower risk of KBD but those carrying allele C in rs1135056 have higher risk of KBD.
出处
《中国妇幼健康研究》
2016年第5期556-557,646,共3页
Chinese Journal of Woman and Child Health Research
基金
国家自然科学基金资助项目(No.81273007)
关键词
大骨节病
COL9A1基因
儿童
单核苷酸多态性
Kashin-Beck disease （KBD）
COL9A1 gene
children
single nucleotide polymorphism
