Suazo José, Santos José Luis, Scapoli Luca, Jara Lilian, Blanco Rafael
Biomedical Sciences Institute, School of Medicine, University of Chile, Santiago, Chile.
Cleft Palate Craniofac J. 2010 Sep;47(5):513-7. doi: 10.1597/09-015.
To assess the possible association between TGFB3 allele variants and nonsyndromic cleft lip with or without cleft palate in a Chilean population.
In our study we used a case-parents trios design. The sample consisted of 150 unrelated trios ascertained through probands affected with nonsyndromic cleft lip with or without cleft palate. Three TGFB3 polymorphisms were analyzed (rs2268626, rs2268625, and rs3917201). An allele/haplotype transmission disequilibrium test was used to evaluate the possible genotype-phenotype association.
An overtransmission from parents to affected progeny was observed for the A allele of rs3917201 (p = .03) and for the rs2268625-rs3917201 A-A haplotype (p = .022). A defect of transmission of rs2268625-rs3917201 G-G haplotype (p = .022) was observed also.
Allelic and haplotypic associations implicate a possible role of TGFB3 in nonsyndromic cleft lip with or without cleft palate in the Chilean population. Additional studies are needed in order to elucidate the possible mechanisms that can explain the role of TGFB3 genetic variants in the condition.
评估智利人群中转化生长因子β3（TGFB3）等位基因变异与非综合征性唇裂伴或不伴腭裂之间的可能关联。
在我们的研究中，采用了病例-父母三联体设计。样本由通过非综合征性唇裂伴或不伴腭裂患者先证者确定的150个无关三联体组成。分析了三个TGFB3多态性位点（rs2268626、rs2268625和rs3917201）。采用等位基因/单倍型传递不平衡检验来评估可能的基因型-表型关联。
观察到rs3917201的A等位基因（p = 0.03）以及rs2268625-rs3917201的A-A单倍型（p = 0.022）从父母向受影响后代的过度传递。还观察到rs2268625-rs3917201的G-G单倍型的传递缺陷（p = 0.022）。
等位基因和单倍型关联表明TGFB3在智利人群非综合征性唇裂伴或不伴腭裂中可能起作用。需要进一步研究以阐明可能解释TGFB3基因变异在该疾病中作用的机制。
