IRF6基因多态性位点与新疆维吾尔族、汉族非综合征性唇腭裂的相关性研究

摘要

目的 研究干扰素调节因子6(IRF6)基因rs2235371和rs2235375位点单核苷酸多态性(SNP)与新疆维吾尔族、汉族非综合征性唇腭裂的关系,并探讨两位点在维吾尔族、汉族两个民族内和民族间基因型和等位基因型的频率差异.方法 在流行病学调查的基础上,按照卫生部《中国妇幼卫生监测工作手册》出生缺陷诊断标准,同时参照国际疾病分类第10次修订本(ICD-10)进行唇腭裂诊断,选取100例非综合征性唇腭裂(NSCL/P)患者作为NSCUP组(维吾尔族50例,汉族50例),对照组100例(维吾尔族50例,汉族50例),运用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)技术来分析IRF6基因的多态性,检验基因型分布是否符合哈迪-温伯格平衡(HWE),分析基因型和等位基因型频率及其在两民族内和民族间频率分布的差异性.结果 两位点基因型频率分布符合HWE(P＞ 0.05),IRF6基因的rs2235371位点等位基因C和T频率及rs2235375位点GG基因型和等位基因G和C频率在NSCL/P组和对照组比较,分布差异均具有统计学意义(P＜0.05).维、汉两民族内,IRF6基因的rs2235371位点维族中TT基因型和汉族中CC和CT基因型分布差异有统计学意义(P＜ 0.05)；IRF6基因的rs2235375位点维族中等位基因G和C和汉族中GG基因型和等位基因G和C分布差异有统计学意义(P＜0.05).维、汉两民族间,IRF6基因型的rs2235371位点,NSCL/P组中维族CC和TT基因型和等位基因C的频率高于汉族,两民族间CT和TT基因型分布差异有统计学意义(P＜0.05).rs2235375位点NSCL/P组中维族CC和等位基因G的频率均高于汉族,维、汉两民族间CC基因型和等位基因G和C的分布差异有统计学意义(P＜0.05).结论 新疆维吾尔族、汉族NSCL/P与IRF6基因的rs2235371位点等位基因C及rs2235375位点GG基因型及等位基因G存在相关性.%Objective To study the relationship between single nucleotide polymorphisms of IRF6 gene (rs2235371 and rs2235375) and and NSCL patients in XinJiang Uygurs and Hans NSCL/P,and explore the differences of the genotype and allele frequency between Uygurs and Hans nationalities.Methods On the basis of epidemiological survey,100 cases of NSCL/P patients were selected as NSCL/P group according to The Ministry of Health "Chinese maternity and child health monitoring Handbook" birth defects diagnostic criteria and The International Classification of diseases of the tenth revision (ICD-10) diagnosis of cleft lip and palate,which includes 50 cases of Uygur and Han 50 cases.Control group also included 50 cases of Uygur and 50 cases of Han.IRF6 gene polymorphism was analyzed using matrix assisted laser desorption ionization time of flight (MALDI-TOF-MS).Pearson x2 was used to test genotypes whether it conformed to the law of Hardy-Weinberg Equilibrium.At the same time,case-control study was performed to analyze genotype and allele frequency and difference in or between Uygurs and Hans nationalities.Results Frequency distribution of genotype conformed to the law of HWE (P ＞ 0.05).There was statistical significance of the C and T alleles frequency at rs2235371 and GG genotype and G and C alleles frequency at rs2235375 between NSCL/P group and control group (P ＜ 0.05).Compared with the controls,statistical significant difference ofTT genotype of rs2235371 in Uygursand CC and CT genotypes of rs2235371 in Hans was observed (P ＜ 0.05).G and C alleles of Uygurs of rs2235375 and GG genotype and G and C alleles of Hans also showed statistical significance (P ＜ 0.05).In NSCL/P group,CC and TT genotypes and C allele frequency of Uygurs at rs2235371 were higher than frequency of Hans.CT and TT genotypes between Uygurs and Hans nationalities also had statistical significance (P ＜ 0.05).In NSCL/P group,the frequency of CC genotype and G allele in Uygurs at rs2235375 was higher than in Hans.CC genotype and G and C alleles between Uygurs and Hans nationalities had statistical significance (P ＜ 0.05).Conclusion These results suggest that rs2235371 C allele and rs2235375 GG genotype and G allele paly important roles in NSCL/P in Xinjiang Uygurs and Hans nationalities.