Back to Search
Start Over
A common mutation in the gene for coagulation factor XIII-A (VAL34Leu): a risk factor for primary intracerebral hemorrhage is protective against atherothrombotic diseases
- Source :
- American journal of hematology. 67(3)
- Publication Year :
- 2001
-
Abstract
- The role of a common polymorphism in the factor XIII A-subunit gene (FXIII Val34Leu) has been recently investigated as a protective genetic factor against arterial and venous thrombosis. In addition, the less frequent Leu34 allele has been described as a risk factor for intracerebral hemorrhage. We evaluated the prevalence of this polymorphism by PCR in three case-control studies of patients diagnosed as having primary intracerebral hemorrhage (PCH, n = 130), coronary heart diseases (CHD, n = 240; myocardial infarction/no myocardial infarction, 120/120), and cerebrovascular diseases (CVD, n = 240; cerebral infarction/transient ischaemic attack, 120/120). The matched control groups consisted of patients admitted to the hospital without history of vascular disease. In addition, 200 healthy subjects were investigated. The frequency of the mutated allele (Leu34) was higher in patients with PCH than in controls (33.8% vs. 23.1%, P = 0.009) and lower in CHD and CVD patients compared to controls (18.1% vs. 25.2%, P = 0.010 and 17.3% vs. 24.2%, P = 0.011, respectively). Moreover, among the patients with CHD, the Leu34 allele was underrepresented in cases with myocardial infarction than without (12.9% vs. 23.3%, P = 0.004) and than in controls (12.9% vs. 25.2%, P < 0.001). Similar findings were obtained in patients with CVD comparing the cases with cerebral infarction versus cases with transient ischaemic attack (12.5% vs. 22.1%, P = 0.008) and versus controls (12.5% vs. 24.2%, P < 0.001). Finally, considering altogether the groups of ischaemic patients (CHD and CVD, n = 480), it was noted a trend towards a higher mean age of the clinical onset in homozygotes for the Leu allele than in the wild types (P = 0.078). This study indicates that in our population possession of the FXIII Val34Leu mutation predisposes to the occurrence of primary intracerebral hemorrhage and protects against cerebral and myocardial infarction. A wider modulatory role in the progression and onset of atherothrombotic diseases could be ascribed to FXIII Val34Leu. Am. J. Hematol. 67:183–188, 2001. © 2001 Wiley-Liss, Inc.
- Subjects :
- Pathology
Arteriosclerosis
Myocardial Infarction
Coronary Disease
Comorbidity
Gastroenterology
Polymerase Chain Reaction
Gene Frequency
Risk Factors
FXIII Val34Leu mutation
Myocardial infarction
Age of Onset
Cerebrovascular disease
education.field_of_study
Factor XIII
Cerebral infarction
Smoking
Hematology
Thrombosis
Coronary heart disease
Ischemic Attack, Transient
Hypertension
Disease Progression
Genetic risk factors
medicine.drug
medicine.medical_specialty
Genotype
Population
Mutation, Missense
Hyperlipidemias
Genetic protective factors
Internal medicine
medicine
Diabetes Mellitus
Humans
Genetic Predisposition to Disease
Risk factor
education
Intracerebral hemorrhage
Alleles
Cerebral Hemorrhage
Polymorphism, Genetic
business.industry
Vascular disease
medicine.disease
Cerebrovascular Disorders
Protein Subunits
Amino Acid Substitution
Genes
Case-Control Studies
business
Subjects
Details
- ISSN :
- 03618609
- Volume :
- 67
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- American journal of hematology
- Accession number :
- edsair.doi.dedup.....3210ab1b1098e9ba65699b6eb58ed770