VEGFR 2基因多态性与复发性自然流产的关联性研究

Association of the VEGFR2 Gene Polymorphism with the Recurrent Spontaneous Abortion

目的探讨血管内皮生长因子受体2(vascular endothelial growth factor receptor 2,VEGFR2/KDR)基因-604T/C,+1192G/A,+1719A/T三个单核苷酸多态性位点与复发性自然流产(recurrent spontaneous abortion,RSA)的关联性。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)检测RSA组(180例,病例组)和正常对照组(191例)的VEGFR2基因3个SNPs位点基因型及等位频率分布情况。结果 VEGFR2-604T/C,+1192G/A,+1719A/T的基因型频率在病例组和对照组之间没有统计学意义(P>0.05)。VEGFR2基因+1192G/A位点等位基因分布频率在病例组和对照组间有统计学意义(P<0.01);VEGFR2基因-604T/C,+1192G/A,+1719A/T三个多态性位点所构建的TAA单倍型在病例组和正常对照组间差异有统计学意义(P<0.01)。结论携带VEGFR2+1192G等位基因的基因型可能会增加宁夏汉族女RSA的发病风险,VEGFR2-604/+1192/+1719构建的单倍型TAA与宁夏地区复发性自然流产的发病可能有关。

Objective To investigate the relationship between the three single nucleotide polymorphisms( SNPs) in vascular endothelial growth factor receptor 2( VEGFR2 /KDR) gene and the risk of recurrent spontaneous abortion( RSA). Methods Polymerase chain reaction- restriction fragment length polymorphism was used to measure genotypes and alleles of KDR gene in 180 patients with RSA and 191 controls. Results No significant difference was found in genotype and allele distributions of VEGFR2- 604 T / C,+ 1719 A / T polymorphisms between cases and controls( P > 0. 05). However,there was significant difference in allele distributions of the VEGFR2 + 1192 G / A polymorphism between cases and controls( P < 0. 01). The haplotype distributions derived from three polymorphisms( VEGFR2- 604 T / C,+ 1192 G / A,+ 1719 A / T) had significant difference between cases and controls( P < 0. 01). Conclusion Women with VEGFR2 + 1192 G allele can significantly increase the risk of RSA. VEGFR2- 604 / + 1192 / + 1719 TAA haplotypes was strongly associated with RSA.