ABSTRACT
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.
