华南汉族人群中干扰素调节因子6 rs10863790位点多态性与非综合征性唇腭裂的关联

Association between Interferon Regulatory Factor6 rs10863790 Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate in Southern Han Chinese Population

目的:研究中国华南地区汉族人群干扰素调节因子(IRF)6 rs10863790位点单核苷酸多态性(SNP)与非综合征性唇腭裂(NSCL/P)的关联。方法:收集385例NSCL/P患者(病例组)和448位健康者(对照组)。用Taq Man基因型鉴定技术分别对位于IRF6 rs10863790位点进行基因型鉴定。用卡方检验评价rs10863790位点基因型频率和等位基因频率在两组中的分布,并评价其与NSCL/P的关联。结果:对照组IRF6 rs10863790位点基因型频率分布符合Hardy-Weinberg平衡。病例组中单纯唇裂(CLO)及唇裂伴腭裂(CLP)位点基因型及等位基因的分布频率与对照组比差异有统计学意义(P<0.05),单纯腭裂(CPO)与对照组比无统计学意义。病例组与对照组男性比有统计学意义(P<0.05),女性比则无统计学意义。结论:IRF6 rs10863790位点多态性与中国华南地区汉族人群CLO及CLP有关联,与CPO无关联。IRF6 rs10863790在NSCL/P中有性别差异,与男性有关联,与女性无关联。

Objective：To investigate the association of single nucleotide polymorphism（SNP）rs10863790 in the interferon regulatory factor（IRF）6 with nonsyndromic cleft lip with or without cleft palate（NSCL/P）in a Southern Chinese Han cohort. Methods：Three hundren and eighty five NSCL/P patients and 448 controls were recruited in the study. IRF6 rs10863790 was genotyped using Taq Man SNP genotyping assay. Association analysis was performed by comparing allelic and genotypic frequencies between NSCL/P and controls using Chi-Square tests. Results：The genotypic distribution of IRF6 rs10863790 in the control group did not deviate from the Hardy-Weinberg equilibrium. There were significant differences in the frequency distributions of both genotypes and alleles when subgroup of patients with cleft lip only（CLO）and those with both cleft lip and cleft palate（CLP）were compared with controls（P〈0.05）,but no such significant difference was found in patients with cleft palate only（CPO）. The frequency of IRF6 rs10863790 was significant higher in male NSCL/P compared with male controls（P〈0.05）. No such significance was found in female. Conclusion：In a Southern Han Chinese cohort,IRF6 rs10863790 is associated with CLO and CLP,but not associated with CPO. IRF6 rs10863790 has a gender difference in association with NSCL/P.