中国南方人群TGFβ3和ARNT2基因多态性与非综合征性唇腭裂的关联研究

摘要

Objective To study association between TGFβ3,ARNT2 polymorphisms and nonsyndromic cleft lip with or without palate.Methods 119 triads with NSCLP affected child from 2006 to 2010 were recruited in the study.Polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) was used to identify rs2300607,rs2268625 genotypes of TGFβ3 and rs2228099,rs3768017 genotypes of ARNT2.The data was analyzed by case-control analysis,transmission disequilibrium test (TDT) and family-based association study (FBAT).Results In the TDT,T allele of TGFβ3 rs2268625 was preferentially transmitted to CLP patients (P =0.02).In the family-based association test,when a haplotype consisting rs2228099 and rs3768017 in ARNT2 was considered,the significant association between CT or GG haplotype and CL/P was observed (P =0.008,0.012).Conclusion The genetic polymorphism of TGFβ3 and ARNT2 is relevant with nonsyndromic cleft lip with or without cleft palate in the south Chinese population.%目的 探讨TGFβ3和ARNT2基因与非综合征性唇腭裂发生的关系.方法 收集了2006～2010年的119个中国南方非综合征性唇腭裂核心家系作为研究对象,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测TGFβ3基因的多态位点rs2300607和rs2268625,以及ARNT2基因的多态位点rs2228099和rs3768017,并进行传递不平衡检验(TDT)和基于核心家系的关联分析(FBAT).结果 TDT分析结果显示:TGFβ3基因中的rs2268625位点在唇裂合并腭裂核心家系中,存在传递不平衡(P=0.02).FBAT分析结果显示:ARNT2基因中rs2228099/rs3768017构成的CT和GG基因型与子代唇腭裂发生危险性增加有显著关联(P=0.008、0.012).结论 在我国南方人群中,TGFβ3基因和ARNT2基因多态性与非综合征性唇腭裂存在关联.