BMP4 Polymorphism is Associated With Nonsyndromic Oral Cleft in a Brazilian Population
BMP4 Polymorphism is Associated With Nonsyndromic Oral Cleft in a Brazilian Population
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DOI：
10.1597/12-048
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发表时间：
2013-11-01
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影响因子：
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通讯作者：
Granjeiro, Jose Mauro
中科院分区：
文献类型：
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作者：
Antunes, Leonardo Santos;Kuechler, Erika Calvano;Granjeiro, Jose Mauro
目的：探讨TGFB3基因(Rs2268626)和BMP4基因(Rs17563)多态性与非综合征性唇裂的关系。设计：以非综合征性口裂病例为研究对象，以非综合征性口裂患者为研究对象，以非综合征性口裂患者为对照，进行病例对照研究。通过临床检查收集裂隙类型和牙齿发育不全的资料，并经病历证实。危险因素通过问卷调查获得。从所有个体的口腔上皮细胞中提取基因组DNA，用Taqman法进行实时聚合酶链式反应，对所选的TGFB3和BMP4基因多态进行基因分型。地点：病例组由巴西里约热内卢一家公共口腔裂隙康复参考医院确定。非唇裂组由在巴西里约热内卢联邦大学牙科诊所招募的无亲缘关系的无家族史的受试者组成。参与者：共833名无亲缘关系的个体(450名对照和383例非综合征性口腔裂患者)。结果：TGFB3基因多态性在口腔裂亚组和对照组之间没有明显的相关性。BMP4基因频率在唇裂组和对照组之间差异有统计学意义(P=.0007)。在唇裂类型方面，唇裂组和对照组之间差异有统计学意义(P-.00009)。结论：我们的研究结果提供了初步证据，提示非综合征性口腔裂的风险可能受BMP4基因变异的影响。
Objective: To evaluate the association of the polymorphisms in the TGFB3 gene (rs2268626) and the BMP4 gene (rs17563) with nonsyndromic oral clefts.Design: A hospital-based case-control study was conducted with nonsyndromic oral clefts cases and unaffected controls. Cleft type and tooth agenesis data were collected by clinical examination and confirmed through medical records. Risk factors were obtained through a questionnaire. Genotyping of the selected polymorphisms for TGFB3 and BMP4 were carried out by real-time polymerase chain reaction using the Taqman assay method from a genomic DNA isolated from buccal epithelial cells of all individuals.Setting: The case group was ascertained through a public reference hospital of oral cleft rehabilitation in Rio de Janeiro, Brazil. The noncleft group consisted of unrelated subjects, with no history of oral cleft in the family, recruited at the Dental Clinic at the Federal University of Rio de Janeiro, Brazil.Participants: A total of 833 unrelated individuals (450 control individuals and 383 cases with nonsyndromic oral clefts)Results: No significant association in relation to genotype or allele distributions for TGFB3 polymorphism was found between oral cleft subgroups and the control group. For BMP4, there were significant differences in the genotype frequencies between the oral cleft and control groups (P = .0007). Regarding cleft type, there were statistically significant differences between the cleft lip and control groups (P - .00009).Conclusion: Our findings provide preliminary evidence suggesting that the risk of nonsyndromic oral clefts may be influenced by variation in the BMP4 gene.