广东潮汕地区汉族人群中MAFB基因rs6102085位点多态性与非综合征性唇腭裂的关联

Association between MAFB rs6102085 polymorphisms and nonsy ndromic cleft lip with or without cleft pa-late in Chaoshan area of Guangdong Han population

目的:探讨广东潮汕地区汉族人群中v-maf肌腱膜纤维肉瘤癌基因同源物B(MAFB)基因的rs6102085多态性与非综合征性唇腭裂(NSCL/P)的关联。方法:纳入潮汕地区唇腭裂组430例和健康组450例。采用TAQMAN基因型鉴定技术对位于MAFB基因的rs6102085进行基因型检测。卡方检验分析rs6102085等位基因和基因型频率在唇腭裂组和健康组中的分布,分析其与唇腭裂的关联。结果:健康组rs6102085基因型分布符合哈迪温伯格平衡。临床亚组中唇裂合并腭裂位点等位基因与基因型的分布频率与健康组对比有统计学意义(P<0.0001),单纯唇裂和单纯腭裂与健康组对比无统计学意义(P>0.05)。男性和女性唇腭裂组分别与健康组对比均有统计学意义(P<0.05)。结论:MAFBrs6102085多态性与潮汕地区汉族人群唇裂合并腭裂有关联,与单纯的唇裂和腭裂无关联,与女性和男性均有关联,性别之间无差异。

Objective: To investigate the association of single nucleotide polymorphisms(SNPs) of rs6102085 in v-maf musculoaponeurotic fibrosarcoma oncogene homolog B(MAFB) with nonsyndromic cleft lip with or without cleft palate(NSCL/P) in Guangdong Han population of Chaoshan area. Methods: 430 patients of CL/P in Chaoshan of Guangdong and 450 healthy controls were included. Rs6102085 in MAFB was genotyped using TAQMAN SNPs genotyping assays. Chi-square test was used to analyze the distribution of genotype frequency and allele frequency of rs6102015 locus in the 2 groups, and to evaluate its association with CL/P. Results: The genotype frrequency distribution of MAFB rs6102085 locus in control group was in accordance with Hardy-Weinberge quilibrium. Case-control study showed that the allele and genotype of the rs6102085 was significantly associated with CLP(P<0.000 1), but no significance was found in cleft lip only(CLO) and cleft palate only(CPO)(P>0.05). The frequency of MAFB rs6102085 was significant in both male and female respectively compared with the controls(P<0.05). Conclusion: The polymorphism of MAFB rs6102085 locus is associated with CLP in the Chaoshan area of Guangdong Han population, but not associated with CLO and CPO. MAFB rs6102085 is associated with NSCL/P of both male and female, there is no difference between male and female.