CRELD1基因多态性与新疆维吾尔族先天性心脏病相关性研究

Association between genetic polymorphism of CRELD1 gene and congenital heart disease in uygur patients in Xinjiang

目的研究CRELD1基因单核苷酸多态性与新疆维吾尔族先天性心脏病的关系。方法选择112例新疆维吾尔族先天性心脏病患者和112例年龄、性别匹配的对照者。选择CRELD1基因的6个SNPs(rs3894571、rs3846167、rs2302785、rs279552、rs17050660、rs279551),应用TaqMan SNP基因分型的方法进行基因分型,分析CRELD1基因单核苷酸多态性与新疆维吾尔族先天性心脏病的相关性。结果患者年龄和性别在入选样本时进行了匹配,所以在分析时进行了剔除。对先心病患者母亲的年龄、文化程度、忧虑情绪、饮食状况等基本情况进行单因素分析,结果显示年龄、文化程度、忧虑情绪、饮食状况等因素与先心病发生有关联。病例组与对照组CC、CT及TT基因型频率分别为74.35%、22.28%、3.37%和83.03%、16.07%、0.90%,两组比较无统计学差异(χ2=5.488,P>0.05)。两组均以CC型为主,等位基因以C占优势,病例组TT基因型频率高于对照组,但是差异无统计学意义(P>0.05),而CT、CT+TT基因型频率和携带T等位基因频率高于对照组,有统计学意义(P<0.05)。应用Logistic回归分析先心病主要相关因素:母亲年龄、文化程度、忧虑情绪、饮食状况对结果的影响,rs3894571 CT、CT+TT、CT、等位基因T因素进入回归方程。结论 CRELD1基因核苷酸多态性与新疆维吾尔族先天性心脏病有相关性。

Objective To study the relationship of CRELD1 gene single nucleotide polymorphism and the congenital heart disease in Xinjiang Uygur. Methods 112 patients with congenital heart disease in Xinjiang Uygnr and 112 age matched controls ,were divided into case group and control group. Selected CRELD1 gene 1 SNPs rs3894571 ,application of TaqMan SNP genotyping method for genotyping. Analyzed the correlation of CRELD1 gene single nucleotide polymorphisms and congenital heart disease in Xinjiang Uygur. Results Age and gender in selected samples for matching,so it was carried out in analysis. Mothers age, culture level, eating fruits and vegetables, concerns the basic situation of single factor analysis, the results showed that age, culture level, anxiety, eating fruit and vegetables and other factors associated with congenital heart disease. Case group and control group in CC, CT and TT genotype frequency were 74.35% ,22.28% ,3.37% and 83.03%, 16.07%,0.90% re- spectively, comparisons of two groups had no statistical differences （X2=5.488,P〉0.05）. Both groups was given priority to CC type,dominant alleles with C. ＇IT genotype and CT ＋ TT genotype frequency of case group were higher than that of the control group,the differences were not significant. Using logistic regression analysis of main risk factors for congenital heart disease： mother＇s age,culture level,eating fruits and vegetables, anxiety influence on the resuh,rs3894571 CT,CT＋TT,CT and allele T entered the regression equation. Conclusion CRELD1 gene nucleotide polymorphism is associated with congenital heart dis- ease in Xinjiang Uygur.