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VWF THR789ALA GENETIC VARIANTS CORRELATE WITH DISEASE PHENOTYPE IN EGYPTIAN PATIENTS WITH ACUTE CORONARY SYNDROME
Author(s): ,
Nahla Osman
Affiliations:
Clinical Pathology,Menoufia University,Shebin Elkom,Egypt
,
Marwa Younes
Affiliations:
Clinical Pathology,Menoufia University,Shebin Elkom,Egypt
,
Reehab Yaseen
Affiliations:
Clinical Pathology,Menoufia University,Shebin Elkom,Egypt
Amro Fathy
Affiliations:
Clinical Pathology,Menoufia University,Shebin Elkom,Egypt
(Abstract release date: 05/18/17) EHA Library. Osman N. 05/18/17; 182920; PB2207
Dr. Nahla Osman
Dr. Nahla Osman
Contributions
Abstract

Abstract: PB2207

Type: Publication Only

Background

von Willbrand factor antigen level (vWF: Ag) was shown to contribute to the risk of cardiovascular disease. vWF Thr789Ala single nucleotide polymorphism is thought to affect factor level and function.

Aims

Aims: This study aimed to investigate the impact of genetic variants at that position on the risk of acute coronary syndrome (ACS).

Methods

Methods: The study included 112 patients of ACS; 31 with unstable angina (UA) and 81 with myocardial infarction (MI) as well as 118 healthy controls. vWF: Ag level was measured by ELISA. The gene analysis was carried out by polymerase chain reaction using restriction fragment length polymorphism (RFLP-PCR) principles.

Results

Results: vWF: Ag levels were significantly higher in MI (111.68 ± 24.77 IU/dl) and UA (110.27 ± 23.44 IU/ml) patients compared to healthy controls (71.13 ± 13.72 IU/dl ), p < 0.001 for both groups, The majority of patients with UA (80.6%) were Ala789 homozygous, 6.5% were Thr789Ala heterozygous and 12.9% were Thr789 homozygous. Regarding the MI group, Ala789 genotype was present in 34.6%, Thr789Ala genotype was the predominant genotype and was seen in 48.1% of patients and Thr789 homozygous was present in 17.3% of patients. The genotype frequency in the control group was as follow; 47.4% were Ala789 homozygous, 33.1% were heterozygous and 19.5% were Thr789 homozygous. The genotype distribution was significantly different among the 3 groups, p< 0.001, and between the groups with UA and MI, p < 0.001. Ala789 homozygous genotype was an independent risk factor for UA while the Thr789Ala genotype was shown as an independent risk factor of MI.

Conclusion

Summary/Conclusion: vWF Thr789Ala genotype is independent risk factor for UA and has significant impact on the type of myocardial ischemia. It should be incorporated in a risk assessment model to identify individual patient risk and guide the management plan.

Session topic: 34. Thrombosis and vascular biology

Keyword(s): Von Willebrand factor (vWF), Risk factor, Polymorphism, Acute coronary syndrome

Abstract: PB2207

Type: Publication Only

Background

von Willbrand factor antigen level (vWF: Ag) was shown to contribute to the risk of cardiovascular disease. vWF Thr789Ala single nucleotide polymorphism is thought to affect factor level and function.

Aims

Aims: This study aimed to investigate the impact of genetic variants at that position on the risk of acute coronary syndrome (ACS).

Methods

Methods: The study included 112 patients of ACS; 31 with unstable angina (UA) and 81 with myocardial infarction (MI) as well as 118 healthy controls. vWF: Ag level was measured by ELISA. The gene analysis was carried out by polymerase chain reaction using restriction fragment length polymorphism (RFLP-PCR) principles.

Results

Results: vWF: Ag levels were significantly higher in MI (111.68 ± 24.77 IU/dl) and UA (110.27 ± 23.44 IU/ml) patients compared to healthy controls (71.13 ± 13.72 IU/dl ), p < 0.001 for both groups, The majority of patients with UA (80.6%) were Ala789 homozygous, 6.5% were Thr789Ala heterozygous and 12.9% were Thr789 homozygous. Regarding the MI group, Ala789 genotype was present in 34.6%, Thr789Ala genotype was the predominant genotype and was seen in 48.1% of patients and Thr789 homozygous was present in 17.3% of patients. The genotype frequency in the control group was as follow; 47.4% were Ala789 homozygous, 33.1% were heterozygous and 19.5% were Thr789 homozygous. The genotype distribution was significantly different among the 3 groups, p< 0.001, and between the groups with UA and MI, p < 0.001. Ala789 homozygous genotype was an independent risk factor for UA while the Thr789Ala genotype was shown as an independent risk factor of MI.

Conclusion

Summary/Conclusion: vWF Thr789Ala genotype is independent risk factor for UA and has significant impact on the type of myocardial ischemia. It should be incorporated in a risk assessment model to identify individual patient risk and guide the management plan.

Session topic: 34. Thrombosis and vascular biology

Keyword(s): Von Willebrand factor (vWF), Risk factor, Polymorphism, Acute coronary syndrome

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