卷曲蛋白4基因多态性与早产儿视网膜病变易感性的关系

Association of the Frizzled-4 gene polymorphism with susceptibility to retinopathy of prematurity

目的 研究卷曲蛋白4（Fzd-4）基因多态性与早产儿视网膜病变（ROP）的关系.方法 按照ROP诊断标准,选取北京军区总医院附属八一儿童医院就诊的北方地区93例汉族ROP患儿,其中轻度ROP患儿86例,重度ROP患儿7例,并选取102例无眼科疾病的早产儿为对照组.采取PCR和基因测序技术检测Fzd-4基因多态性位点的基因型频率在各组之间的分布,并进行统计学分析.结果 Fzd-4基因外显子1区域存在205C/T基因多态性位点.轻度ROP组和对照组相比较基因型频率以及等位基因频率差异无统计学意义（P=1.000）,重度ROP组和对照组、轻度ROP组相比较基因型频率以及等位基因频率比较差异均有统计学意义（P=0.010、0.001）.其中等位基因T使重度ROP的发病风险提高了43.714倍,由轻度ROP进展为重度ROP的概率提高了36.857倍;携带等位基因T使重度ROP的发病率提高了29.143倍,由轻度ROP进展为重度ROP的概率提高了24.571倍.结论 Fzd-4基因205 C/T基因多态性与重度ROP易感性有关联效应,而与轻度ROP易感性无关联效应.

Objective To research the relationship between Frizzled-4 （Fzd-4） gene polymorphism and the pathogens of retinopathy of prematurity（ROP）.Methods According to the diagnostic standard of retinopathy of prematurity,93 patients with ROP,including 86 early ROP cases and 7 advanced ROP cases,who were selected from the Affiliated Bayi Children＇s Hospital,Beijing Military Region General Hospital,were enrolled,and 102 premature infants without ocular disease were enrolled randomly as control group.Genotype of Fzd-4 was determined by polymerase chain reaction and gene sequencing,and the distributions of genetic polymorphism in each group were compared throngh statistical analysis.Results A 205C/T polymorphism was found in exon 1.Genotype and allele frequency distributions of 205C/T had no significant difference between the early ROP group and control group（P =1.000）,but there were significant differences between advanced ROP group,control group and early ROP group（P =0.010,0.001）.Allele T enhanced the risk of advanced ROP 43.714 times and the risk of early ROP developing to be advanced ROP also increased 36.857 times.Carrying allele T enhanced the risk of advanced ROP 29.143 times and the risk of early ROP developing into advanced ROP also increased 24.571 times.Conclusion There is a correlation effect between the 205C/T polymorphism of Fzd-4 gene and the advanced ROP,but not the early ROP.