CAJ | 학술논문

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.
목적 연구권곡단백4(Fzd-4)기인다태성여조산인시망막병변(ROP)적관계.방법 안조ROP진단표준,선취북경군구총의원부속팔일인동의원취진적북방지구93례한족ROP환인,기중경도ROP환인86례,중도ROP환인7례,병선취102례무안과질병적조산인위대조조.채취PCR화기인측서기술검측Fzd-4기인다태성위점적기인형빈솔재각조지간적분포,병진행통계학분석.결과 Fzd-4기인외현자1구역존재205C/T기인다태성위점.경도ROP조화대조조상비교기인형빈솔이급등위기인빈솔차이무통계학의의(P=1.000),중도ROP조화대조조、경도ROP조상비교기인형빈솔이급등위기인빈솔비교차이균유통계학의의(P=0.010、0.001).기중등위기인T사중도ROP적발병풍험제고료43.714배,유경도ROP진전위중도ROP적개솔제고료36.857배;휴대등위기인T사중도ROP적발병솔제고료29.143배,유경도ROP진전위중도ROP적개솔제고료24.571배.결론 Fzd-4기인205 C/T기인다태성여중도ROP역감성유관련효응,이여경도ROP역감성무관련효응.
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.