Department of Orthodontics, Bauru Dental School, University of São Paulo, Bauru, São Paulo, Brazil.
Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, São Paulo, Brazil.
Arch Oral Biol. 2020 Jan;109:104556. doi: 10.1016/j.archoralbio.2019.104556. Epub 2019 Sep 17.
OBJECTIVES: To investigate the association of MSX1 rs12532 polymorphism with the risk of nonsyndromic unilateral complete cleft lip and palate (NSCLP) and tooth agenesis. MATERIALS AND METHODS: The study is comprised of 384 individuals divided into 4 groups: group 1, patients with unilateral complete NSCLP and premolar agenesis (n = 57); group 2, patients with unilateral NSCLP without tooth agenesis (n = 117); group 3, patients with premolar agenesis without oral cleft (n = 53) and group 4 (n = 157), a control group with individuals without tooth agenesis and oral cleft. Genotyping of rs12532 was carried out with Taqman chemistry, and associations were investigated using logistic regression analyses. RESULTS: Overall rs12532 allele and genotype distributions revealed no significant differences between the groups of NSCLP or tooth agenesis. CONCLUSION: Although our results are consistent with a lack of association of MSX1 rs12532 and the risk of unilateral NSCLP and tooth agenesis, further studies with additional SNPs and a more diverse ethnic cohort are warranted.
目的：探讨 MSX1 rs12532 多态性与非综合征型单侧完全性唇腭裂（NSCLP）和牙齿缺失的风险之间的关联。
材料和方法：本研究包括 384 名个体，分为 4 组：组 1，单侧完全性 NSCLP 和前磨牙缺失的患者（n=57）；组 2，单侧 NSCLP 无牙齿缺失的患者（n=117）；组 3，无口腔裂隙的前磨牙缺失的患者（n=53）和组 4（n=157），无牙齿缺失和口腔裂隙的对照组个体。使用 Taqman 化学方法进行 rs12532 基因分型，并使用逻辑回归分析调查关联。
结果：总体而言，rs12532 等位基因和基因型分布在 NSCLP 或牙齿缺失组之间没有显著差异。
结论：尽管我们的结果与 MSX1 rs12532 与单侧 NSCLP 和牙齿缺失风险之间缺乏关联一致，但需要进一步研究更多的 SNP 和更多样化的种族队列。
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