Settin Ahmad, Dowaidar Moataz, El-Baz Rizk, Abd-Al-Samad Ayman, El-Sayed Ibrahim, Nasr Mahmoud
Genetic Unit, Genetic Engineering & Biotechnology Research Institute, Menoufya University, Egypt.
Hematology. 2008 Jun;13(3):170-4. doi: 10.1179/102453308X316158.
Acute myocardial infarction (MI) is death or necrosis of myocardial cells due to lack of blood supply. One of the causes may be thrombosis resulting from inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation.
To check for the presence of FVL mutation among Egyptian cases with MI compared to normal population controls.
This study is a form of a prospective controlled study including 44 MI cases with an age ranging from 25 to 80 years and sex of 36 males (81.8%) and 8 females (18.2%). These cases were taken randomly from those admitted in the Intensive Care Units of Mansoura University Hospitals, Egypt. Of these cases, 10 cases (55.6%) were smokers, 7 cases (75.0%) had a positive family history of MI, 8 cases (18.18%) were diabetic and 20 cases (45.45%) were hyperlipidemic. For association and risk analysis, cases were compared to 211 healthy unrelated control subjects of matched age and sex. Factor V Leiden (G1691A) gene mutation was detected using a multiplex allele-specific PCR amplification.
Mutant A allele frequency of factor V Leiden was significantly higher in cases (30.68%) than in controls (10.19%) (p<0.0001, OR=3.9). Total cases showed significant higher frequency heterozygous mutant genotype GA (43.0%) compared to controls (16.6%), (p<0.0001, OR=4.45). Also total cases showed significant higher frequency of the homozygous mutant genotype AA (9.0%) compared to controls (1.9%), (p=0.0094, OR=8.19). On the other hand, no significant difference was found between cases subgroups related to age, sex, smoking, diabetes and hyperlipedemia.
Frequency of factor V Leiden mutation among Egyptian cases with myocardial infarction is relatively high. So, families of affected subjects should be genotyped and counseled for proper prophylaxis.
急性心肌梗死(MI)是由于血液供应不足导致的心肌细胞死亡或坏死。其原因之一可能是由因子V莱顿(FVL)突变引起的遗传性对活化蛋白C的抵抗导致的血栓形成。
与正常人群对照组相比,检查埃及心肌梗死病例中FVL突变的存在情况。
本研究是一项前瞻性对照研究,包括44例心肌梗死病例,年龄在25至80岁之间,其中男性36例(81.8%),女性8例(18.2%)。这些病例是从埃及曼苏拉大学医院重症监护病房收治的患者中随机选取的。在这些病例中,10例(55.6%)为吸烟者,7例(75.0%)有心肌梗死家族史阳性,8例(18.18%)患有糖尿病,20例(45.45%)患有高脂血症。为了进行关联和风险分析,将病例与211名年龄和性别匹配的健康无关对照受试者进行比较。使用多重等位基因特异性PCR扩增检测因子V莱顿(G1691A)基因突变。
因子V莱顿的突变A等位基因频率在病例组中(30.68%)显著高于对照组(10.19%)(p<0.0001,OR=3.9)。与对照组(16.6%)相比,病例组杂合突变基因型GA的频率显著更高(43.0%),(p<0.0001,OR=4.45)。此外,与对照组(1.9%)相比,病例组纯合突变基因型AA的频率也显著更高(9.0%),(p=0.0094,OR=8.19)。另一方面,在与年龄、性别、吸烟、糖尿病和高脂血症相关的病例亚组之间未发现显著差异。
埃及心肌梗死病例中因子V莱顿突变的频率相对较高。因此,应对受影响受试者的家族进行基因分型并给予适当的预防建议。