[Study on the relationship between polymorphisms of susceptible genes in coagulation pathway related to pulmonary thromboembolism in Chinese Han population].
OBJECTIVE
To determine the prevalence of beta-fibrinogen gene -455G/A, -148C/T polymorphisms in Chinese Han population and to investigate whether they were associated with pulmonary thromboembolism (PTE).


METHODS
The subjects consisted of 101 patients with PTE and 101 healthy controls matched with age and sex, from the same geographic area. All patients were diagnosed by high probability of lung ventilation/perfusion scan and/or multi-slice CT pulmonary angiography as well as medical history and clinical manifestations. Genome DNA was extracted from whole blood using KI-phenol-chloroform. Genotypes and allele frequencies of fibrinogen beta gene -455G/A, -148C/T polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Restriction enzyme HaeIII and HindIII digestion were used for detecting -455G/A, -148C/T polymorphisms respectively.


RESULTS
Regarding fibrinogen beta gene -455G/A and -148C/, the allele frequencies G and A of fibrinogen beta -455 in the controls were 0.931, 0.069 while C and T of -148 were 0.777, 0.223 respectively, which were in good agreement with Hardy-Weinberg equilibrium. There was significant difference of -455G/A genotype frequencies distribution of AA, GA, GG between cases and in controls respectively, but no significant difference was found in the -148C/T polymorphisms. The frequencies of mutation allele -455A were 0.193, 0.169 in cases and in controls with P < 0.05 but there was no statistically significant difference of -148T allele. The presence of A allele of fibrinogen beta -455 was found to be a greater risk factor in cases than in controls. The odds ratio (OR) of GA and GA + AA were 3.723 (1.786 - 7.759), 3.749 (1.842 - 7.630), respectively. When compared with GG genotype, the P value was 0.0001.


CONCLUSIONS
There was a complete linkage disequilibrium between fibrinogen beta -148C/T and -455G/A found. The frequencies of -455A, alleles in PTE disease were apparently higher than that of healthy adults but there was no difference in -148T alleles.
Zhai
Zhen-guo
ZG
Division of Pulmonary Disease, Beijing Institute of Respiratory Medicine, Beijing Chaoyang Hospital, Capital University of Medical Sciences, Beijing 100020, China.
Wang
Chen
C
Yang
Yuan-hua
YH
Pang
Bao-sen
BS
Xiao
Bai
B
Liu
Yan-mei
YM
Mao
Yan-ling
YL
D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005340:Fibrinogen / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011655:Pulmonary Embolism / Q000235:genetics*; D012307:Risk Factors
D005340:Fibrinogen