Cheng Hongqiu, Huang Enmin, Tang Shijie, Xu Mingyan, Shu Shenyou
Department of Infectious Disease, Second Affiliated Hospital, Shantou University Medical College, Shantou Guangdong, 515041, PR China.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2012 Jul;26(7):845-8.
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 lip with or without cleft palate (NSCL/P) in the southern Chinese Han population.
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-flight (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.
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 OR(TT) = 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(T vs. C) = 0.55, 95% CI: 0.41-0.75, P value of transmission disequilibrium test was 0.000).
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.
揭示中国南方汉族人群中肌腱膜纤维肉瘤癌基因同源物B（MAFB）基因rs17820943位点的单核苷酸多态性（SNP）与非综合征性唇裂伴或不伴腭裂（NSCL/P）之间的关联。
采用基质辅助激光解吸/电离飞行时间（MALDI-TOF）质谱法对300例NSCL/P患者、354例正常对照以及另外168例病例-亲代三联体进行MAFB基因rs17820943多态性基因分型。然后根据基因分型结果，进行病例对照关联研究和病例-亲代三联体关联研究。
病例组与对照组之间rs17820943位点的等位基因频率和基因型频率存在显著差异（等位基因P = 0.001，基因型P = 0.002）。具体而言，等位基因T（病例组频率：对照组频率 = 0.358:0.448）和基因型TT（病例组频率：对照组频率 = 0.110:0.195）的比值比（OR）值及95%置信区间（95%CI）分别为ORT = 0.69（95%CI：0.55 - 0.86）和OR(TT) = 0.43（95%CI：0.26 - 0.70）。随后的病例-亲代三联体分析也表明MAFB rs17820943变异与NSCL/P风险之间存在关联（ORT(T对C) = 0.55，95%CI：0.41 - 0.75，传递不平衡检验的P值为0.000）。
MAFB基因rs17820943位点多态性与中国南方汉族人群的NSCL/P相关；MAFB rs17820943变异可能是NSCL/P的易感基因。
