Araújo Tânia Kawasaki, Simioni Milena, Félix Têmis Maria, de Souza Liliane Todeschini, Fontes Marshall Ítalo Barros, Monlleó Isabella Lopes, Souza Josiane, Fett-Conte Agnes Cristina, Secolin Rodrigo, Lopes-Cendes Iscia, Maurer-Morelli Cláudia Vianna, Gil-da-Silva-Lopes Vera Lúcia
Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil.
Plast Surg Int. 2012;2012:247104. doi: 10.1155/2012/247104. Epub 2012 Nov 27.
Cleft lip with or without palate (CL±P) is common congenital anomalies in humans. Experimental evidence has demonstrated that bone morphogenetic protein 4 gene (Bmp4) is involved in the etiology of CL±P in animal models. The nonsynonymous polymorphism rs17563 T>C (p.V152A) in the BMP4 gene has been associated to the risk of nonsyndromic CL±P in Chinese population and microforms from different ethnic backgrounds. The aim of this study was to investigate the role of BMP4 gene in CL±P in Brazilian sample using genetic association approach. Our sample was composed by 123 patients with nonsyndromic CL±P and 246 controls, in which absence of CL±P was confirmed in 3 generations. The rs17563 polymorphism was genotyped by PCR-RFLP technique. Logistic regression was performed to evaluate allele and genotype association. Our data showed statistical power to detect association (86.83%) in this sample. Logistic regression results showed significant association between C allele and CL±P (P = 0.00018, OR = 0.40, and 95% CI = 0.25-0.65), as well as CC genotype and CL±P (P = 0.00018, OR = 0.35, and 95% CI = 0.19-0.66). So, there is a strong association between nonsyndromic CL±P and BMP4 rs17563 polymorphism in our sample and the C allele had a protective effect against the occurrence of nonsyndromic CL±P.
唇裂伴或不伴腭裂（CL±P）是人类常见的先天性畸形。实验证据表明，骨形态发生蛋白4基因（Bmp4）参与了动物模型中CL±P的病因学。BMP4基因中的非同义多态性rs17563 T>C（p.V152A）与中国人群及不同种族背景的微小型非综合征性CL±P的风险相关。本研究的目的是采用遗传关联方法研究BMP4基因在巴西样本CL±P中的作用。我们的样本由123例非综合征性CL±P患者和246例对照组成，其中3代人被证实无CL±P。通过PCR-RFLP技术对rs17563多态性进行基因分型。进行逻辑回归以评估等位基因和基因型的关联性。我们的数据显示该样本具有检测关联性的统计效力（86.83%）。逻辑回归结果显示C等位基因与CL±P之间存在显著关联（P = 0.00018，OR = 0.40，95%CI = 0.25 - 0.65），以及CC基因型与CL±P之间存在显著关联（P = 0.00018，OR = 0.35，95%CI = 0.19 - 0.66）。因此，在我们的样本中，非综合征性CL±P与BMP4 rs17563多态性之间存在很强的关联，并且C等位基因对非综合征性CL±P的发生具有保护作用。
Medicine (Baltimore). 2017-8
Arch Oral Biol. 2016-12
Cleft Palate Craniofac J. 2013-11
J Dent Res Dent Clin Dent Prospects. 2023
Avicenna J Med Biotechnol. 2022
Medicine (Baltimore). 2017-8
PLoS One. 2012-4-13
BMC Med Genet. 2011-12-19
Hum Mutat. 2011-2-22
Nat Rev Genet. 2011-3
Birth Defects Res A Clin Mol Teratol. 2010-7
Am J Hum Genet. 2009-3
Ann Hum Biol. 2008
Zotero 插件