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周汶静, 胡雪姣, 张晶雅等. Wnt信号通路基因单核苷酸多态性与中国西部藏族人群结核易感性研究[J]. koko体育app 学报（医学版）, 2016, 47(6): 920-925.
引用本文: 周汶静, 胡雪姣, 张晶雅等. Wnt移动信号径路染色体四核cpu苷酸多态性与中华西边藏族患者结核易理想化的研究[J]. 重庆大学专业学报（医疗版）, 2016, 47(6): 920-925.
ZHOU Wen-jing, HU Xue-jiao, ZHANG Jing-ya. et al. Association of Gene Polymorphisms in Wnt Signal Pathway with Tuberculosis in Chinese Tibetan Population[J]. Journal of Sichuan University (Medical Sciences), 2016, 47(6): 920-925.
Citation: ZHOU Wen-jing, HU Xue-jiao, ZHANG Jing-ya. et al. Association of Gene Polymorphisms in Wnt Signal Pathway with Tuberculosis in Chinese Tibetan Population[J]. Journal of Sichuan University (Medical Sciences), 2016, 47(6): 920-925.

Wnt信号通路基因单核苷酸多态性与中国西部藏族人群结核易感性研究

Association of Gene Polymorphisms in Wnt Signal Pathway with Tuberculosis in Chinese Tibetan Population

  • 摘要: 目的 探讨中国西部地区藏族人群Wnt信号通路相关基因多态性位点与结核病易感性的关系。 方法 采用MassARRAY质谱分析法对488例藏族结核病患者（病例组）和454例藏族健康对照（对照组）进行Wnt信号通路中5个基因单核苷酸多态性(SNP)检测，分别为CTNNB1基因rs4135385位点、DKK1基因rs11001553位点、WIF1基因rs56900803位点、SFRP1基因 rs7832767位点和AXIN2基因rs11079571位点。计算目标SNPs的基因型及等位基因频率的分布，并对差异有统计学意义的突变位点进行遗传模型分析(共显性、显性、隐性模型)。同时，比较目标SNPs在藏族与汉族两个群体中的多态性差异。结果 5个SNPs位点在病例组与对照组的频率分布均符合Hardy-Weinberg平衡。SFRP1 rs7832767在病例组和对照组中的基因型和等位基因频率分布差异有统计学意义(P=0.004，0.002)。相较于野生型等位基因C，突变等位基因T可能增加藏族人群患结核病的风险〔比值比(OR)=1.260, 95%可信区间（95%CI）: 1.086~1.471, P=0.002〕。该位点的共显性遗传模型TT/CC，显性遗传模型TC+TT/CC及隐性遗传模型TT/CC+TT都显示出与高结核病发病风险相关（P值分别为0.004，0.030、0.002，OR值分别为2.31、1.33、2.15）。其余4个SNPs位点的基因型频率与等位基因频率分布在两组中相似，差异无统计学意义(P均 > 0.05)。比较汉族、藏族结核人群发现：CTNNB1基因rs4135385位点的基因型频率和等位基因频率在两组人群中的分布不一致，差异有统计学意义(P=0.035, 0.021)，其余4个SNPs位点在两民族间的分布差异无统计学意义(P均>0.05)。 结论 Wnt信号通路SFRP1基因多态性与中国西部地区藏族人群结核病的发生相关，SFRP1基因可能属于结核病的易感基因。CTNNB1基因多态性提示藏、汉族人群具有不同的遗传背景。  
    Abstract: Objective To determine the correlation between gene polymorphisms in Wnt signal pathway and susceptibility of Chinese Tibetan people to tuberculosis. Methods A total of 488 active tuberculosis patients and 454 healthy subjects(control) were enrolled in this case-control study. Five single nucleotide polymorphisms (SNPs) in Wnt signal pathway (rs4135385 in CTNNB1 gene,rs11001553 in DKK1 gene,rs56900803 in WIF1 gene,rs7832767 in SFRP1 gene and rs11079571 in AXIN2 gene) were genotyped using MassARRAY method. The genotype and allele distributions of these loci were determined using SPSS19.0 and SNP stats software. Significant SNPs were measured in the co-dominant, dominant and recessive genetic models. The polymorphism distributions of Chinese Tibetans were compared with those of Chinese Han populations. Results The genotype distributions of all SNPs coincided with the Hardy-Weinberg equilibrium in the 2 groups. The frequencies of genotype and allele of rs7832767 in SFRP1 gene were significantly different (P=0.004, 0.002, respectively) between the Tibetan patients with tuberculosis and the Tibetan healthy controls. Compared with C allele carriers, those carrying T allele of rs7832767 showed increased risk of tuberculosis 〔odds ratio (OR)=1.260，95% confidence interval (CI):1.086-1.471，P=0.002〕. The co-dominant, dominant and recessive models of this locus were also associated with higher risk of tuberculosis. No significant differences in genotype and allele distributions were observed for the other four SNP loci (P all>0.05). The distribution of rs4135385 in CTNNB1 gene in the Chinese Tibetan population differed from the Han population (P=0.035 for genotype, 0.021 for allele). There were no obvious differences in genotype and allele distributions for the other four SNPs between the Tibetan and Han populations (P all >0.05).Conclusion SFRP1 gene polymorphism in Wnt signal pathway is associated with tuberculosis susceptibility in Chinese Tibetan population. The distribution of CTNNB1 gene polymorphism differs between Chinese Tibetan and Han populations.  
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