Association study of single nucleotide polymorphisms of MAFB with non-syndromic cleft lip with or without cleft palate in a population in Heilongjiang Province, northern China
Association study of single nucleotide polymorphisms of MAFB with non-syndromic cleft lip with or without cleft palate in a population in Heilongjiang Province, northern China
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DOI：
10.1016/j.bjoms.2014.06.003
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发表时间：
2014-10-01
影响因子：
1.8
通讯作者：
Dong, Chen
中科院分区：
文献类型：
--
作者：
Mi, Na;Hao, Yanru;Dong, Chen
非综合征性唇腭裂是一种常见的复杂出生缺陷。MAFB（v-maf musculoaponeurotic fibrosarcoma oncogene homolog B）是一个新发现的与唇腭裂（chip/lip with chip palate，CL/P）相关的基因。为了进一步评估其在NSCLP中的作用，我们研究了3个已确定的MAFB单核苷酸多态性（rs 13041247、rs6065259和rs 11696257），并在中国北方汉族人群中的344例患者和324名健康对照中检测了它们与NSCLP的相关性。当患者入组研究时采集外周血样本，并从血液中提取DNA样本。使用微型测序方法（用于SNP基因分型的多重系统，Life Technologies Ltd，佩斯利，英国）对3种单核苷酸多态性进行基因分型。我们发现rs6065259是MAFB中最重要的单核苷酸多态性（OR 6065259-AA = 0.45; 95%CI：0.28至0.71; p = 0.0027），其次是rs 13041247;然而，未发现rs 11696257与NSCLP之间存在关联。我们的研究为中国北方汉族人群中MAFB变异在NSCLP发生中的作用提供了进一步的证据。(C)2014年英国口腔颌面外科医师协会。由爱思唯尔有限公司出版。保留所有权利。
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common complex birth defect. MAFB (v-maf musculoaponeurotic fibrosarcoma oncogene homolog B) is a new gene that may be involved in susceptibility to cleft lip with or without cleft palate (CL/P). To further assess its role in NSCLP, we investigated 3 identified single nucleotide polymorphisms in MAFB (rs13041247, rs6065259, and rs11696257) and examined them for association with NSCLP in 344 patients and 324 healthy controls in a northern Chinese Han population with a high incidence of the syndrome. Peripheral blood samples were taken when patients enrolled in the study and DNA samples were extracted from the blood. The 3 single nucleotide polymorphisms were genotyped using a mini-sequencing method (Snapshot((R)) Multiplex System for SNP genotyping, Life Technologies Ltd, Paisley, UK). We found that rs6065259 was the most important single nucleotide polymorphism in MAFB (OR6065259-AA = 0.45; 95% CI: 0.28 to 0.71; p = 0.0027), followed by rs13041247; however, no association was found between rs11696257 and NSCLP. Our study provides further evidence regarding the role of MAFB variations in the development of NSCLP in this northern Chinese Han population. (C) 2014 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.