Gene/Protein Disease Symptom Drug Enzyme Compound
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 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Coronary artery disease (CAD) is one of the chief causes of death in the world. Several hypotheses have been promoted as for the origin of the disease, among which are genetic predispositions and/or environmental factors. The aim of this study was to determine the effect of factor V (FV) gene polymorphisms (Leiden, G1691A [FVL] and HR2 A4070G) and to analyze their association with traditional risk factors in assessing the risk of CAD. Our study population included 200 Tunisian patients with symptomatic CAD and a control group of 300 participants matched for age and sex. All participants were genotyped for the FVL and HR2 polymorphisms. Multivariate logistic regression was applied to analyze independent factors associated with the risk of CAD. Our analysis showed that the FVL A allele frequency ( P < 10-3, odds ratio [OR] = 2.81, 95% confidence interval [CI] = 1.6-4.9) and GA genotype ( P < 10-3, OR = 4.03, 95% CI = 2.1-7.6) are significantly more prevalent among patients with CAD compared to those controls and may be predisposing to CAD. We further found that the FVL mutation is an independent risk factor whose effect is not modified by other factors (smoking, diabetes, hypertension, dyslipidemia, and a family history of CAD) in increasing the risk of the disease. However, analysis of FV HR2 variation does not show any statistically significant association with CAD. The FVL polymorphism may be an independent risk factor for CAD. However, further investigations on these polymorphisms and their possible synergisms with traditional risk factors for CAD could help to ascertain better predictability for CAD susceptibility.
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PMID:Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease. 2917 80

Among the major causes and risk factors for fetal loss are chromosomal abnormalities, genetic syndromes, placental abnormalities, thrombophilia (FVL, Fil G20210A, C677T MTHFR, PAl-1 4G /-5G), infection and inflammation (IL-3, IL-4, IL-17, IL-10), antiphospholipid syndrome, maternal diseases such as hypertension, diabetes and obesity. Pregnancy is a prothrombotic state as a result of specific physiological changes with multifactorial ethio-pathogenesis, leading to increased procoagulant factors and structural changes turned a sTasis, inflammatory component and contribution of individual genetic and acquired thrombophilic risk factors. Understanding of the molecular mechanisms of control over the process of embryogenesis, placentation and fetal development and impact of the factors of hemodtasis, inflammation and apoptosis, contributes to the application- of appropriate therapy and increase the chance of successful completion of pregnancy.
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PMID:[FETAL LOSSES DURING THE MATURATION OF THE PLACENTA AND THE RELATIONSHIP WITH SOME PROCOAGULANT CONDITIONS.] 2979 Jul 8

Thrombophilia is caused by several genetic and acquired factors. Existence of more than one genetic factor may increase the risk of developing recurrent thrombotic events. Here, we present a case of a 48-year-old male with a known history of deep venous thrombosis and a known mutation in factor V Leiden combined with mild protein S deficiency, who presented with a painful swelling in the left leg. Moreover, the patient had a history of diabetes, dyslipidemia and obesity. Prothrombin time and platelet count were within the normal range. The international normalized ratio and activated partial thromboplastin time were 3.21 and 36.7 s, respectively. The Doppler study showed a thrombus in the saphenous vein, and complementary genetic screening investigations revealed heterozygous mutation for prothrombin (G20210A). A diagnosis of multifactorial genetic thrombophilia was established. The patient was treated with warfarin, which resulted in significant improvement in the follow-ups, and at the time of reporting this case, there were no clinical or biological signs of thrombosis. The presence of multiple hereditary and acquired thrombophilic factors is a rare clinical presentation that requires close monitoring, for which a lifelong anticoagulation therapy should be discussed based on the clinical response of the patient.
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PMID:Three-factorial Genetic Thrombophilia with Recurrent Thrombotic Events in a Saudi Patient: A Case Report. 3295 15


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