GCH1基因多态性与黑龙江人群非综合征性唇腭裂的关联研究

Association of GCH1 gene polymorphism with non-syndromic cleft lip with or without cleft palate in the Heilongjiang population

目的为了评估GCH1基因多态性在不同民族不同地区非综合征性唇腭裂中的作用,本实验研究GCH1基因在黑龙江地区与NSCL/P相关敏感性的关系。方法收集了GCH1基因研究组血样314例对照组和280例NSCLP患者作为研究对象,运用SNaPshot的方法GCH1基因的3个SNPs位点(rs17128050,rs8004018,和rs17128077)进行基因分型。对样本的等位基因和基因型频率进行分析,采用卡方检验(χ~2检验)。统计学分析全部采用SAS v9.1.3统计学软件,P<0.05认为差异有统计学意义。结果结果显示,GCH1 rs17128050(P=0.04)、GCH1 rs8004018(P=0.02)与对照组有显著性差异;CLP组GCH1 rs17128050(P=0.03)、GCH1 rs8004018(P=0.02)与对照组比较有显著性差异。结论本实验研究证明GCH1基因单核苷酸多态性与黑龙江人群非综合征性唇腭裂之间有显著相关。

Objective To access the effect of GCH1 gene polymorphism on non-syndromic cleft lip with/without cleft palace(NSCL/P) in different ethnic groups and regions, and study the sensitivity association between GCH1 gene and NSCL/P in Heilongjiang. Methods The study group of GCH1 gene consisted of the blood samples of 314 controls and 280 NSCL/P cases. Genotyping of the 3 SNPs(rs17128050,rs8004018, rs17128077) was performed by using SNaPshot minisequencing technique. The alleles and genotype frequency in all samples were analyzed. And the Chi-square test was used. All of statistical analysis was performed using SAS v9.1.3 statistical software package(SAS Institute, Inc.). Two-tailed P-values less than 0.05 were considered significant. Results There were significant differences in GCH1 rs17128050 and GCH1 rs8004018 compared with control subjects(P=0.04 and P=0.02, respectively), and in group CLP there were significant differences in GCH1 rs17128050 and GCH1 rs8004018 compared with controls(P=0.03 and P=0.02, respectively). Conclusion This study proves that GCH1 gene single nucleotide polymorphism is significantly associated with NSCL/P in Heilongjiang population.