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Prevalence of factor V gene mutation amongst myocardial infarction patients and healthy controls is higher in Sweden than in other countries

Holm, Johan LU ; Zöller, Bengt LU ; Berntorp, Erik LU ; Erhardt, Leif RW LU and Dahlbäck, Björn LU (1996) In Journal of Internal Medicine 239(3). p.221-226
Abstract

OBJECTIVE: Haemostatic imbalance may be an aetiological factor in the development of acute coronary syndromes. Inherited resistance to activated protein C (APC) is a common disorder associated with hypercoagulability and lifelong risk of venous thrombosis. APC resistance is due to a single mutation in the gene coding for coagulation factor V (FV:Q506). To test the importance of the FV:Q506 mutation in premature myocardial infarction (MI), its prevalence was investigated in Swedish patients with MI before the age of 50 years.

DESIGN, SETTING AND SUBJECTS: In a retrospective case-control study, the FV:Q506 mutation was investigated in 101 survivors of MI (79 men, 22 women) and in 101 healthy sex- and age-matched controls.

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OBJECTIVE: Haemostatic imbalance may be an aetiological factor in the development of acute coronary syndromes. Inherited resistance to activated protein C (APC) is a common disorder associated with hypercoagulability and lifelong risk of venous thrombosis. APC resistance is due to a single mutation in the gene coding for coagulation factor V (FV:Q506). To test the importance of the FV:Q506 mutation in premature myocardial infarction (MI), its prevalence was investigated in Swedish patients with MI before the age of 50 years.

DESIGN, SETTING AND SUBJECTS: In a retrospective case-control study, the FV:Q506 mutation was investigated in 101 survivors of MI (79 men, 22 women) and in 101 healthy sex- and age-matched controls.

MAIN OUTCOME MEASURE: The prevalence of FV:Q506 mutation.

RESULTS: The FV:Q506 mutation was found in 18% of patients versus 11% of controls (P = 0.16). The mutation was significantly more frequent amongst male patients than amongst controls (23 vs. 10%; P = 0.03), the calculated odds ratio being 2.6 (95% CI, 1.1-6.4).

CONCLUSION: The high prevalence of the FV:Q506 mutation found amongst Swedish MI patients, especially amongst men, is noteworthy, and calls for further studies on the outcome of MI in APC-resistant patients. The prevalence of the FV:Q506 mutation in controls is higher than figures reported from other countries, suggesting that at least 10% of the Swedish population are carriers of a congenital prothrombotic disorder.

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published
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keywords
Adult, Case-Control Studies, Factor V, Female, Gene Frequency, Humans, Male, Middle Aged, Mutation, Myocardial Infarction, Prevalence, Protein C, Retrospective Studies, Risk Factors, Sex Factors, Sweden, Thrombosis, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't
in
Journal of Internal Medicine
volume
239
issue
3
pages
6 pages
publisher
Wiley-Blackwell Publishing Ltd
external identifiers
  • scopus:0030032237
ISSN
0954-6820
language
English
LU publication?
yes
id
ac121ce1-6d23-4958-b8fb-e3bcd1ea2654
date added to LUP
2017-10-19 15:31:16
date last changed
2017-11-07 15:11:44
@article{ac121ce1-6d23-4958-b8fb-e3bcd1ea2654,
  abstract     = {<p>OBJECTIVE: Haemostatic imbalance may be an aetiological factor in the development of acute coronary syndromes. Inherited resistance to activated protein C (APC) is a common disorder associated with hypercoagulability and lifelong risk of venous thrombosis. APC resistance is due to a single mutation in the gene coding for coagulation factor V (FV:Q506). To test the importance of the FV:Q506 mutation in premature myocardial infarction (MI), its prevalence was investigated in Swedish patients with MI before the age of 50 years.</p><p>DESIGN, SETTING AND SUBJECTS: In a retrospective case-control study, the FV:Q506 mutation was investigated in 101 survivors of MI (79 men, 22 women) and in 101 healthy sex- and age-matched controls.</p><p>MAIN OUTCOME MEASURE: The prevalence of FV:Q506 mutation.</p><p>RESULTS: The FV:Q506 mutation was found in 18% of patients versus 11% of controls (P = 0.16). The mutation was significantly more frequent amongst male patients than amongst controls (23 vs. 10%; P = 0.03), the calculated odds ratio being 2.6 (95% CI, 1.1-6.4).</p><p>CONCLUSION: The high prevalence of the FV:Q506 mutation found amongst Swedish MI patients, especially amongst men, is noteworthy, and calls for further studies on the outcome of MI in APC-resistant patients. The prevalence of the FV:Q506 mutation in controls is higher than figures reported from other countries, suggesting that at least 10% of the Swedish population are carriers of a congenital prothrombotic disorder.</p>},
  author       = {Holm, Johan and Zöller, Bengt and Berntorp, Erik and Erhardt, Leif RW and Dahlbäck, Björn},
  issn         = {0954-6820},
  keyword      = {Adult,Case-Control Studies,Factor V,Female,Gene Frequency,Humans,Male,Middle Aged,Mutation,Myocardial Infarction,Prevalence,Protein C,Retrospective Studies,Risk Factors,Sex Factors,Sweden,Thrombosis,Comparative Study,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  number       = {3},
  pages        = {221--226},
  publisher    = {Wiley-Blackwell Publishing Ltd},
  series       = {Journal of Internal Medicine},
  title        = {Prevalence of factor V gene mutation amongst myocardial infarction patients and healthy controls is higher in Sweden than in other countries},
  volume       = {239},
  year         = {1996},
}