KLKB1基因多态性与肺血栓栓塞症的相关性

Association between KLKB1 Polymorphisms and Pulmonary Thromboembolism

目的研究KLKB1基因单核苷酸多态性(SNPs)与肺动脉栓塞症(PTE)的关联。方法以确诊的95例PTE患者为PTE病例组,以90名健康体检者为对照组,采用χ2检验、Logistic回归分析对SNP位点的基因型频率、等位基因和单倍体型进行相关性分析,并在加性、显性和隐性3种遗传模型下对各SNP位点进行相关性分析。结果 rs3733402位点的基因型频率在PTE病例组和健康对照组间的分布差异有统计学意义(P=0.041),KLKB1基因区域rs2292423、rs4253325和rs3733402 3个位点组成的GTG单倍型分布在PTE组和健康对照组间差异有统计学意义(P=0.040)。结论汉族人群KLKB1基因区域中的rs3733402位点与PTE的遗传易感性相关。

Objective To investigate the potential correlation between the single nucleotide polymorphisms（ SNPs） in the KLKB1 region and pulmonary thromboembolism（ PTE） in a Chinese Han population.Methods In this case-control study,95 patients with confirmed PTE were enrolled as the PTE group and 90 healthy subjects as the control group. The genotypes,alleles,and haplotypes of the SNPs were analyzed with PLINK 1. 07 and Haploview 4. 2 software using chi-square test and Logistic regression analysis. SNPs were further analyzed under three genetic models（ additive, dominant, and recessive）. Results The distribution of rs3733402 in KLKB1 gene showed significant difference between PTE group and control group（ P = 0. 041）.The distributions of GTG haplotypes consisted of rs2292423,rs4253325,and rs3733402 in KLKB1 gene were also significantly different between PTE group and control group（ P = 0. 040）. Conclusion The rs3733402 locus variation in KLKB1 gene is associated with PTE in Chinese Han people.