Department of Orthodontics, Showa University, Tokyo, Japan.
Department of Orthodontics, Pusan National University, Pusan, South Korea.
Arch Oral Biol. 2018 Jan;85:142-147. doi: 10.1016/j.archoralbio.2017.10.005. Epub 2017 Oct 9.
The interferon regulatory factor 6 gene (IRF6) is one of the most conspicuous genes among a large number of candidate risk genes for non-syndromic cleft lip with or without cleft palate, which is considered to be a multifactorial defect. Variants of IRF6 are also suggested to affect normal craniofacial variations, especially in the area of the nose and the upper lip. In the present study, we used lateral cephalograms to establish the relationship between IRF6 and sagittal nasolabial morphology in healthy East Asian subjects.
Genomic DNA was extracted from 215 Japanese and 226 Korean individuals, and genotyped for five IRF6 single nucleotide polymorphisms (SNPs): rs17389541, rs642961, rs2013162, rs2235371, and rs7802. These SNPs were tested by multiple regression analyses for their association with craniofacial measurements obtained from lateral cephalometrics.
We detected a significant association between the derived variants, rs2013162 and rs2235371 and the distances between a facial bone plane indicated by distance from Nasion and Point A (NA plane) to soft tissue landmarks; the Subalare (NA-Sbal) and the Subnasale (NA-Sn) in the sagittal plane.
Our results indicate that IRF6 variants play an important role in the normal range of variation in nasolabial soft-tissue morphology.
干扰素调节因子 6 基因（IRF6）是众多非综合征性唇裂伴或不伴腭裂候选风险基因中最显著的基因之一，被认为是一种多因素缺陷。IRF6 的变异也被认为会影响正常的颅面变异，特别是在鼻子和上唇区域。在本研究中，我们使用侧位头颅侧位片来建立 IRF6 与健康东亚个体矢状位鼻唇形态之间的关系。
从 215 名日本人和 226 名韩国人中提取基因组 DNA，并对 IRF6 的 5 个单核苷酸多态性（SNP）进行基因分型：rs17389541、rs642961、rs2013162、rs2235371 和 rs7802。通过多元回归分析这些 SNP 与从侧位头颅侧位片获得的颅面测量值之间的关联。
我们检测到衍生变异 rs2013162 和 rs2235371 与从 Nasion 到软组织标志的面骨平面（NA 平面）与矢状面软组织标志之间的距离；Subalare（NA-Sbal）和 Subnasale（NA-Sn）之间存在显著关联。
我们的结果表明，IRF6 变异在鼻唇软组织形态的正常变异范围内起着重要作用。
