Association between IRF6 SNPs and oral clefts in West China.
Association between IRF6 SNPs and oral clefts in West China.
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DOI：
10.1177/0022034509341040
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发表时间：
2009-08
影响因子：
7.6
通讯作者：
Shi B
中科院分区：
文献类型：
--
作者：
Huang Y;Wu J;Ma J;Beaty TH;Sull JW;Zhu L;Lu D;Wang Y;Meng T;Shi B
对以往数据的分析已经证实了IRF 6基因对某些人群中非综合征性唇腭裂（NSOC）易感性的贡献。我们使用病例-父母三联设计和病例-对照设计，对来自中国西部的样本进行了IRF 6中rs 2013162、rs 2235375和rs 2235371多态性与NSOC风险之间的关联性检验。我们的研究组由332名NSOC患者及其父母（289名母亲和243名父亲，这三个SNP的206个完整的三重）和174名对照个体组成。我们发现了强有力的证据，过度和不足的C等位基因（瓦尔等位基因）在rs 2235371，和C等位基因在rs 2235375在裂缝的情况下，父母三人（P = 0.013和P = 0.000，分别）。在rs 2235371和rs 2235375位点，病例组与对照组比较，基因型和等位基因的频率分布有显著差异。五个特定的单倍型表现出显着的过度和不足的传输。这些结果进一步支持了IRF 6变异体在中国西部人群中的作用。
Analyses of previous data have confirmed the contribution of the IRF6 gene to susceptibility to nonsyndromic oral clefts (NSOC) in some populations. We tested for associations between the rs2013162, rs2235375, and rs2235371 polymorphisms in IRF6 and the risk of NSOC, using both case-parent trio and case-control designs on samples from western China. Our study group consisted of 332 persons with NSOC, their parents (289 mothers and 243 fathers for 206 complete trios for these three SNPs), and 174 control individuals. We found strong evidence of over- and under-transmission of the C allele (the Val allele) at rs2235371, and the C allele at rs2235375 in cleft case-parent trios (P = 0.013 and P = 0.000, respectively). There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at rs2235371 and rs2235375. Five specific haplotypes showed significant over- and under-transmission. These results further support a role for IRF6 variants in western Chinese populations.