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目的探讨中国北方人群干扰素调节因子6(IRF6)基因rs642961位点多态性与非综合征性唇裂伴或不伴腭裂(NSCL±P)的相关性。方法收集中国北方人群88个病例核心家庭和116个正常儿童作对照,用四引物扩增受阻突变体系聚合酶链反应(tetra-primer ARMS-PCR)的方法,进行IRF6基因rs642961检测;用人群关联研究、传递不平衡检验(TDT)、单倍型相对风险率(HHRR)、家庭为基础的关联检验(family-based association test,FBAT)等进行统计分析。结果子代、父亲、母亲三个亚组人群的IRF6基因rs642961位点的基因型在NSCL±P组与对照组的分布差异具有统计学意义(P<0.05),OR值及其95%可信区间均不包含1,提示IRF6基因rs642961位点的变异能增加NSCL±P发病的危险。核心家庭资料TDT和HHRR的结果均显示有统计学差异(P<0.05),FBAT分析提示可能存在加性传递模式(P<0.05),进一步支持IRF6基因rs642961位点的突变和NSCL±P发生相关。结论在中国北方人群中,IRF6基因rs642961位点多态性与NSCL±P发病相关。
Objective To investigate the association between rs642961 polymorphism of interferon regulatory factor 6 (IRF6) gene and nonsyndromic cleft palate (NSCL ± P) in North China. Methods Eighty-eight core family members and 116 normal children from northern China were enrolled in this study. The IRF6 gene rs642961 was detected by tetra-primer ARMS-PCR. (TDT), haplotype relative risk (HHRR), family-based association test (FBAT) and so on. Results There was significant difference in the distribution of rs642961 of IRF6 gene between NSCL ± P group and control group (P <0.05), and the OR value and 95% of the three subgroups were statistically significant The results showed that the mutation of rs642961 in IRF6 gene could increase the risk of NSCL ± P. The results of core family data TDT and HHRR showed statistical difference (P <0.05). FBAT analysis suggested that there may be additive transmission mode (P <0.05), further supporting the association between the mutation of rs642961 of IRF6 gene and NSCL ± P . Conclusion In northern Chinese population, rs642961 polymorphism of IRF6 gene is associated with the incidence of NSCL ± P.