CHENG Hongqiu 1,2 , HUANG Enmin 3 , TANG Shijie 3 , XU Mingyan 3,4 , SHU Shenyou 3
  • 1Department of Infectious Disease, 3Cleft Lip and Palate Treatment Center, 4Department of Stomatology, Second Affiliated Hospital, Shantou University Medical College, Shantou Guangdong, 515041, P.R.China;;
  • 2Grduate School of Hubei University of Chinese Medicine;
V-maf musculoaponeurotic fibrosarcoma oncogene homolog B gene; Non-syndromic cleftlip with or without cleft palate; Association study; Candidate gene study; Single nucleotide polymorphism
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Objective To reveal the association between the single nucleotide polymorphism (SNP) of v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) gene rs17820943 locus and non-syndromic cleft l ip with or without cleft palate (NSCL/P) in the southern Chinese Han population. Methods Genotyping of MAFB gene rs17820943 polymorphism was carried out in 300 patients with NSCL/P, 354 normal controls, and an additional 168 case-parent trios with matrix-assisted laser desorption/ionisation time-of-fl ight (MALDI-TOF) mass spectrometry. Then based on the genotyping
results, both a case-control association study and a case-parent trio association study were performed. Results Significant differences were found in the allele and genotype frequencies of rs17820943 locus between case and control groups (Pallele=0.001 and Pgenotype=0.002, respectively). To be specific, the odds radio (OR) values and 95% confidence interval (95%CI) of allele T (frequencies of cases ∶ controls = 0.358 ∶ 0.448) and genotype TT (frequencies of cases ∶ controls = 0.110 ∶ 0.195) were ORT = 0.69 (95%CI: 0.55-0.86) and ORTT = 0.43 (95%CI: 0.26-0.70), respectively. Subsequent case-parent trio analysis also indicated an association between MAFB rs17820943 variant and the risk of NSCL/P (ORT vs. C = 0.55, 95%CI: 0.41-0.75, P value of transmission disequilibrium test was 0.000). Conclusion Polymorphism of MAFB gene rs17820943 locus is associated with NSCL/P in the southern Chinese Han population; MAFB rs17820943 variant may be a susceptible gene of NSCL/P.

Citation： CHENG Hongqiu,HUANG Enmin,TANG Shijie,XU Mingyan,SHU Shenyou. ASSOCIATION BETWEEN SINGLE NUCLEOTIDE POLYMORPHISMS OF V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG B GENE AND NON-SYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE. Chinese Journal of Reparative and Reconstructive Surgery, 2012, 26(7): 845-848. doi: Copy