Association of genetic variants in Wnt signaling pathway with tuberculosis in Chinese Han population.
Association of genetic variants in Wnt signaling pathway with tuberculosis in Chinese Han population.
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DOI：
10.1371/journal.pone.0093841
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Wang L
中科院分区：
文献类型：
--
作者：
Hu X;Shang M;Zhou J;Ye Y;Lu X;Tao C;Ying B;Wang L
令人信服的研究表明，Wnt信号通路在结核病的发生和发展中起着重要作用，然而，很少有文献报道Wnt通路多态性在结核病中的作用。我们采用基于途径的候选基因方法来研究Wnt通路遗传变异与结核病之间可能的相关性。采用高分辨率熔融分析方法，对422例中国汉族结核病患者和402例频率匹配（年龄、性别和种族）的对照进行了Wnt通路3个单核苷酸多态性（CTNNB1基因rs4135385、SFRP1基因rs7832767和AXIN2基因rs11079571）的基因分型。rs4135385和rs7832767基因型和等位基因频率在患者和对照组中存在显著差异。优势基因rs4135385与结核病风险增加显著相关（AG/GG vs . AA: OR = 1.49, 95% CI = 1.06-2.09, p = 0.019）。rs7832767的隐性模型与TC/CC相比，具有显著的更高的结核病风险（TT, OR = 2.70, 95% CI = 1.41 ~ 5.18, p = 0.002）。进一步评估这些snp是否与结核部位和炎症标志物水平相关。Rs7832767与CRP水平显著相关（p = 0.014），携带T等位基因的患者可能出现CRP升高（OR = 1.90, 95% CI = 1.21 ~ 2.96, p = 0.005）。本研究首次提供了rs4135385和rs7832767与结核病风险相关的证据，并且Wnt信号通路的遗传变异可能参与了中国汉族人群结核病的遗传易感性。有必要在更大的人群中进行进一步的流行病学和功能研究来验证我们的结果。
Compelling studies have implicated that the Wnt signaling pathway plays an important role in the development and progression of tuberculosis, however, there is little literature addressing the role of polymorphisms in Wnt pathway on tuberculosis. We took a pathway based candidate gene approach to investigate the possible correlation between genetic variants in Wnt pathway and tuberculosis. Three single nucleotide polymorphisms (SNPs) in Wnt pathway (rs4135385 in CTNNB1 gene, rs7832767 in SFRP1 gene, and rs11079571 in AXIN2 gene) were genotyped in 422 Chinese Han tuberculosis patients and 402 frequency matched (age, gender, and ethnicity) controls using high-resolution melting analysis. The genotype and allelic frequencies of rs4135385 and rs7832767 were significantly different among patients and controls. The dominant model of rs4135385 was significantly associated with an increased risk of tuberculosis (AG/GG versus AA: OR = 1.49, 95% CI = 1.06–2.09, p = 0.019). The recessive model of rs7832767 posed a significant higher risk for tuberculosis (TT versus TC/CC, OR = 2.70, 95% CI = 1.41–5.18, p = 0.002). These SNPs were further evaluated whether they were correlated with the site of tuberculosis and the level of inflammatory markers. Rs7832767 was significantly associated with the level of CRP (p = 0.014), and the patients carrying T allele might present with elevated CRP values (OR = 1.90, 95% CI = 1.21–2.96, p = 0.005). Our study provided the first evidence that rs4135385 and rs7832767 were associated with tuberculosis risk, and genetic variants in Wnt signaling pathway might participate in genetic susceptibility to tuberculosis in Chinese Han population. Further epidemiological and functional studies in larger populations are warranted to verify our results.
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影响因子：
14.9
作者：
Modrek, B;Resch, A;Lee, C
通讯作者：
Lee, C
DOI：
10.1159/000056942
发表时间：
2001-01-01
期刊：
CYTOGENETICS AND CELL GENETICS
影响因子：
--
作者：
Dong, X;Seelan, RS;Liu, W
通讯作者：
Liu, W
影响因子：
3.7
作者：
Alanazi MS;Parine NR;Shaik JP;Alabdulkarim HA;Ajaj SA;Khan Z
通讯作者：
Khan Z
影响因子：
3.7
作者：
Feng WX;Mokrousov I;Wang BB;Nelson H;Jiao WW;Wang J;Sun L;Zhou SR;Xiao J;Gu Y;Wu XR;Ma X;Shen A
通讯作者：
Shen A
影响因子：
6.2
作者：
Sims, Anne-Marie;Shephard, Neil;Brown, Matthew A.
通讯作者：
Brown, Matthew A.