title: 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.
abstract: 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(®) 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.
authors: The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China. Electronic address: mina1981@163.com.
authors: Na
authors: N
authors: Mi
authors: The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China. Electronic address: honorastar@163.com.
authors: Yanru
authors: Y
authors: Hao
authors: The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China. Electronic address: jiaoxiaohui_dds@163.com.
authors: Xiaohui
authors: X
authors: Jiao
authors: The medical department, The Second Affiliated Hospital of Harbin Medical University, Harbin, China. Electronic address: mnzxd@163.com.
authors: Xudong
authors: X
authors: Zheng
authors: The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China. Electronic address: 20868581@qq.com.
authors: Tao
authors: T
authors: Song
authors: The Department of Periodontology, The First Affiliated Hospital, Harbin Medical University, Harbin, China. Electronic address: 1098123@qq.com.
authors: Jinna
authors: J
authors: Shi
authors: The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China. Electronic address: 14285167@qq.com.
authors: Chen
authors: C
authors: Dong
mesh_terms: D000225:Adenine; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003596:Cytosine; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006147:Guanine; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D016350:Leucine Zippers / Q000235:genetics*; D015810:Linkage Disequilibrium / Q000235:genetics; D051258:MafB Transcription Factor / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013941:Thymine
chemical_list: C490407:MAFB protein, human; D051258:MafB Transcription Factor; D006147:Guanine; D003596:Cytosine; D000225:Adenine; D013941:Thymine
keywords: MAFB; NSCLP; polymorphisms; susceptibility gene