a Graduate student (PhD), Department of Orthodontics, School of Dentistry, Seoul National University, Fellow Doctor, Department of Orthodontics, School of Dentistry, Kyung Hee University, Seoul, South Korea.
Angle Orthod. 2013 Nov;83(6):1036-42. doi: 10.2319/020513-104.1. Epub 2013 May 29.
OBJECTIVE: To investigate the association between the risk of tooth agenesis and single-nucleotide polymorphisms (SNPs) of MSX1 and PAX9 genes in nonsyndromic cleft patients. MATERIALS AND METHODS: The subjects were 126 Korean nonsyndromic cleft patients. Tooth agenesis type (TAT) was classified as none (0); cleft area (1); cleft area + other area (2); and other area (3) based on agenesis of the maxillary lateral incisor (MXLI) and another tooth within or outside the cleft area. TAT was further grouped into two subcategories (0 and 1) and four subcategories (0, 1, 2, and 3). Three SNPs of MSX1 and 10 SNPs of PAX9 were investigated using Fisher's exact test and logistic regression analysis. RESULTS: Although the association between genotype distribution of PAX9-rs7142363 and TAT was significant (P < .05 in four subcategories), genotypic odds ratios (GORs) of SNPs in each TAT were not meaningful. However, for MSX1-rs12532 and PAX9-rs2073247, associations between genotypic distribution and TAT were significant (P < .01 in four subcategories and P < .05 in two subcategories; P < .01 in two subcategories, respectively). In cleft area, GORs of MXLI agenesis in genotypes GA of MSX1-rs12532 and CT of PAX9-rs2073247 were increased by 3.14-fold and 4.15-fold compared with genotype GG of MSX1-rs12532 and CC of PAX9-rs2073247, respectively (P <. 01; P < .05). In cleft area + other area, the GOR of agenesis of MXLI and another tooth in genotype AA of MSX1-rs12532 was increased by fivefold compared with genotype GG (P < .05). CONCLUSION: Genetic disturbances of MSX1 and PAX9 genes are associated with tooth agenesis within and outside the cleft area.
目的：探讨非综合征型唇腭裂患者中 MSX1 和 PAX9 基因单核苷酸多态性（SNPs）与牙齿缺失风险的关系。
材料与方法：本研究共纳入 126 例韩国非综合征型唇腭裂患者。根据上颌侧切牙（MXLI）和腭裂区内外其他牙齿缺失情况，将牙齿缺失类型（TAT）分为无缺失（0）；腭裂区缺失（1）；腭裂区+其他区缺失（2）；其他区缺失（3）。进一步将 TAT 分为两组（0 和 1）和四组（0、1、2 和 3）。采用 Fisher 确切检验和 logistic 回归分析检测 MSX1 的 3 个 SNP 和 PAX9 的 10 个 SNP。
结果：虽然 PAX9-rs7142363 基因型分布与 TAT 之间存在显著关联（四组分类中 P <.05），但各 TAT 中 SNP 的基因型优势比（GOR）并无统计学意义。然而，对于 MSX1-rs12532 和 PAX9-rs2073247，基因型分布与 TAT 之间的关联具有统计学意义（四组分类中 P <.01，两组分类中 P <.05；两组分类中 P <.01）。在腭裂区，MSX1-rs12532 基因型 GA 和 PAX9-rs2073247 基因型 CT 与 MSX1-rs12532 基因型 GG 和 PAX9-rs2073247 基因型 CC 相比，MXLI 缺失的 GOR 分别增加了 3.14 倍和 4.15 倍（P <.01；P <.05）。在腭裂区+其他区，MSX1-rs12532 基因型 AA 中 MXLI 和另一颗牙齿缺失的 GOR 增加了五倍（P <.05）。
结论：MSX1 和 PAX9 基因的遗传紊乱与腭裂区内外的牙齿缺失有关。
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