Xu W, Han W T, Lu Y P, Feng W H, Dai M
Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China
Genet Mol Res. 2016 Sep 2;15(3):gmr8210. doi: 10.4238/gmr.15038210.
The aim of this study was to determine the association between two SNPs (rs2235371 and rs2013162) in the interferon regulatory factor 6 (IRF6) gene and non-syndromic cleft palate (NSCP) in northeast China. We genotyped these two SNPs in 104 NSCP cases, as well as in 178 parents and 300 controls. Case-control and case-parent analyses were performed using χ2 tests and family-based association tests (FBAT). Results indicated that there were significant differences in both genotypic and allelic distributions between patients and controls at rs2235371 and rs2013162 in the IRF6 gene. Case-parent analysis revealed over-transmission of the C allele in rs2235371 and the A allele in rs2013162. Lastly, FBAT showed over-transmission of the CA haplotype. This study demonstrated that the two SNPs, rs2235371 and rs2013162, are strongly associated with NSCP in the northeast Chinese population.
本研究旨在确定干扰素调节因子6（IRF6）基因中的两个单核苷酸多态性（SNP，rs2235371和rs2013162）与中国东北地区非综合征性腭裂（NSCP）之间的关联。我们对104例NSCP病例以及178名父母和300名对照进行了这两个SNP的基因分型。采用χ2检验和基于家系的关联检验（FBAT）进行病例对照分析和病例-父母分析。结果表明，IRF6基因中rs2235371和rs2013162位点在患者与对照之间的基因型和等位基因分布均存在显著差异。病例-父母分析显示，rs2235371位点的C等位基因和rs2013162位点的A等位基因传递过多。最后，FBAT显示CA单倍型传递过多。本研究表明，rs2235371和rs2013162这两个SNP与中国东北人群的NSCP密切相关。
