COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.
COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.
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DOI：
10.1371/journal.pone.0120365
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Guo X
中科院分区：
文献类型：
--
作者：
Shi X;Zhang F;Lv A;Wen Y;Guo X
我们试图确定IX型胶原基因（COL 9A）的基因组多态性是否与大骨节病（KBD）相关。采用Sequenom MassARRAY系统对274例大骨节病患者和248名健康对照者的COL 9A 1、COL 9A 2和COL 9A 3基因27个单核苷酸多态性（SNPs）进行基因分型。采用非条件Logistic回归模型检测COL 9A多态性与大骨节病风险之间的关联。应用Haploview软件进行连锁不平衡分析和单倍型分析。经Bonferroni校正后，COL 9A 1基因rs6910140位点基因型频率分布在大骨节病组和对照组间差异有显著性（X2 = 16.74，df = 2，P = 0.0002）。回归分析显示，SNP rs6910140等位基因“C”对大骨节病具有保护作用[OR = 0.49，95%可信区间（CI）= 0.34-0.70，P = 0.0001]。rs6910140基因型和等位基因频率在不同病期间差异有统计学意义（等位基因：X2 = 7.82，df = 2，P = 0.02;基因型：X2 = 14.81，df = 4，P = 0.005）。然而，单倍型分析没有检测到大骨节病与COL 9A 1、COL 9A 2和COL 9A 3之间的任何显著关联。我们观察到COL 9A 1的rs6910140与大骨节病之间存在显著关联，表明COL 9A 1在大骨节病的发展中起作用。
We sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD). Twenty seven single nucleotide polymorphisms (SNPs) in COL9AI, COL9A2 and COL9A3 were genotyped in 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system. Associations between the COL9A polymorphism and KBD risk were detected using an unconditional logistic regression model. Linkage disequilibrium (LD) and haplotypes analysis were performed with the Haploview software. After Bonferroni correction, the frequency distribution of genotypes in rs6910140 in COL9A1 was significantly different between the KBD and the control groups (X 2 = 16.74, df = 2, P = 0.0002). Regression analysis showed that the allele “C” in SNP rs6910140 had a significant protective effect on KBD [odds ratio (OR) = 0.49, 95% confidence interval (CI) = 0.34–0.70, P = 0.0001]. The frequencies of alleles and genotypes in rs6910140 were significantly different among subjects of different KBD stages (allele: X 2 = 7.82, df = 2, P = 0.02, genotype: X 2 = 14.81, df = 4, P = 0.005). However, haplotype analysis did not detect any significant association between KBD and COL9A1, COL9A2 and COL9A3. We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD.
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