Center of Cleft Lip and Palate, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shijingshan, Beijing 100144, P.R. China.
Mol Med Rep. 2013 Oct;8(4):1228-34. doi: 10.3892/mmr.2013.1617. Epub 2013 Aug 6.
Non‑syndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital deformity, often associated with missing or deformed teeth. The genes interferon regulatory factor 6 (IRF6), muscle segment homeobox 1 (MSX1) and paired box gene 9 (PAX9) are important for the development of the maxillofacial region and dentition. The aim of this study was to explore how genetic variations in IRF6, MSX1 and PAX9, as well as gene‑gene interactions, are associated with NSCL/P. We investigated 9 IRF6 tag single nucleotide polymorphisms (SNPs), 2 MSX1 tag SNPs and 8 PAX9 tag SNPs selected from HapMap data from the Chinese population. The SNPs were examined for associations with NSCL/P in 204 patients and 226 controls. The results demonstrated a significant association between NSCL/P and rs2073485, rs2235371, rs2236909 and rs861020 in the IRF6 gene, and haplotype analysis supported these findings. A marginally significant difference was observed in the NSCL/P group for rs17176643 in the PAX9 gene compared to the control group. The results of gene‑gene interaction analyses also indicated that the combination of rs2073485, rs2235371 or rs2236909 in IRF6 and rs17176643 in PAX9, increased the risk of NSCL/P. Thus, our study provided additional understanding of IRF6 variations in patients with NSCL/P and suggested that interactions between the IRF6 and PAX9 genes are potentially important for susceptibility to NSCL/P.
非综合征性唇裂伴或不伴腭裂（NSCL/P）是一种常见的先天性畸形，常伴有牙齿缺失或畸形。干扰素调节因子 6（IRF6）、肌肉节同源盒 1（MSX1）和配对盒基因 9（PAX9）等基因对于颌面部和牙齿的发育非常重要。本研究旨在探讨 IRF6、MSX1 和 PAX9 基因的遗传变异以及基因-基因相互作用与 NSCL/P 的关系。我们从中国人群的 HapMap 数据中选择了 9 个 IRF6 标签单核苷酸多态性（SNP）、2 个 MSX1 标签 SNP 和 8 个 PAX9 标签 SNP，研究了这些 SNP 与 NSCL/P 的关系。在 204 例患者和 226 例对照中，对这些 SNP 与 NSCL/P 的关系进行了检测。结果显示，IRF6 基因中的 rs2073485、rs2235371、rs2236909 和 rs861020 与 NSCL/P 显著相关，单体型分析也支持这些发现。与对照组相比，PAX9 基因中的 rs17176643 在 NSCL/P 组中差异具有边缘统计学意义。基因-基因相互作用分析的结果也表明，IRF6 中的 rs2073485、rs2235371 或 rs2236909 与 PAX9 中的 rs17176643 相结合，增加了 NSCL/P 的发病风险。因此，本研究为 NSCL/P 患者中 IRF6 变异提供了更多的认识，并表明 IRF6 和 PAX9 基因之间的相互作用可能对 NSCL/P 的易感性具有重要意义。
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