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目的揭示位于染色体20q12的肌腱膜纤维肉瘤癌基因B型同系物基因(v-maf musculoaponeurotic fibrosarcoma oncogene homolog B,MAFB)上游单核苷酸多态性位点rs17820943与中国南方汉族人群非综合征型唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)发病的相关性。方法采用引物单碱基延伸、基质辅助激光解析-电离飞行时间质谱分析法检测了300例NSCL/P患者(病例组)和354例健康志愿者(对照组)以及168个完整患儿-健康父母3人核心家系的rs17820943基因型。并以测定的基因型为基础分别进行病例-对照研究以及患儿-健康父母3人家系研究。结果 rs17820943的等位基因和基因型频率在病例组与对照组间差异均有统计学意义(P等位基因=0.001和P基因型=0.002)。其中等位基因T(频率病例∶对照=0.358∶0.448)和基因型TT(频率病例∶对照=0.110∶0.195)的比值比(oddsratio,OR)和95%可信区间(95%confidence interval,95%CI)值分别为ORT=0.69(95%CI:0.55～0.86)和ORTT=0.43(95%CI:0.26～0.70)。患儿-健康父母3人家系研究也表明该位点与NSCL/P存在强阳性关联(ORT vs.C=0.55,95%CI:0.41～0.75,传递不平衡检验P=0.000)。结论 MAFB基因的rs17820943位点的单核苷酸多态性与中国南方汉族人群的NSCL/P易感性相关,表明MAFB基因可能是NSCL/P的易感基因。
Objective To reveal the relationship between rs17820943, a single nucleotide polymorphism (SNP) locus upstream of v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) on chromosome 20q12, Correlation of the incidence of non-syndromic cleft lip with or without cleft palate (NSCL / P). Methods 300 NSCL / P patients (case group) and 354 healthy volunteers (control group) and 168 intact children - healthy parents were detected by primer single base extension and matrix-assisted laser desorption / ionization time of flight mass spectrometry The rs17820943 genotype of the 3-core family. Based on the genotypes tested, case-control studies and pediatric-healthy parents and 3 pedigrees were performed. Results The rs17820943 allele and genotype frequencies were significantly different between the case group and the control group (P allele = 0.001 and P genotype = 0.002). The odds ratio (OR) and 95% confidence interval (95%) of the allele T (frequency case: control = 0.358: 0.448) and genotype TT (frequency case: control = 0.110: % CI) were ORT = 0.69 (95% CI: 0.55-0.86) and ORTT = 0.43 (95% CI: 0.26-0.70), respectively. A pedigree-healthy parent 3-pedigree study also showed that this locus was strongly positive for NSCL / P (ORT vs. C = 0.55, 95% CI: 0.41 to 0.75, P = 0.000 for transmission imbalance). Conclusion The single nucleotide polymorphism of rs17820943 in MAFB gene is associated with NSCL / P susceptibility in Han population of southern China, indicating that MAFB gene may be a susceptible gene to NSCL / P.