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Association between KLKB1 Polymorphisms and Pulmonary Thromboembolism.

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Single nucleotide polymorphisms (SNPs) in the KLKB1 gene are linked to pulmonary thromboembolism (PTE). Specifically, rs3733402 variations are associated with PTE risk in the Chinese Han population.

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Area of Science:

  • Genetics and Genomics
  • Cardiovascular Disease Research
  • Population Genetics

Background:

  • Pulmonary thromboembolism (PTE) is a significant cause of morbidity and mortality.
  • Genetic factors are known to influence PTE susceptibility.
  • The KLKB1 gene region is a potential candidate for genetic associations with PTE.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the KLKB1 gene and the risk of pulmonary thromboembolism (PTE).
  • To analyze specific SNPs and haplotypes within the KLKB1 region in a Chinese Han population.

Main Methods:

  • A case-control study design was employed.
  • 95 PTE patients and 90 healthy controls were recruited.
  • Genotyping, allelic, and haplotypic analyses of KLKB1 SNPs were performed using PLINK and Haploview software.
  • Statistical analyses included chi-square tests and logistic regression, examining additive, dominant, and recessive genetic models.

Main Results:

  • A significant difference in the distribution of the rs3733402 SNP in the KLKB1 gene was observed between PTE patients and controls (P=0.041).
  • The GTG haplotype (comprising rs2292423, rs4253325, and rs3733402) in the KLKB1 gene also showed a significant difference in distribution between the groups (P=0.040).

Conclusions:

  • The rs3733402 locus variation within the KLKB1 gene is associated with pulmonary thromboembolism (PTE).
  • These findings suggest a genetic link between KLKB1 gene polymorphisms and PTE risk in the Chinese Han population.