Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.15.1 (ACE)
 18,300 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Single-gene disorders explain only a minority of stroke cases. Stroke represents a complex trait, which is usually assumed to be polygenic. On this topic, the role of a wide number of candidate genes has been investigated in stroke through association studies, with controversial results. Therefore, it is difficult for the clinician to establish the validity and the level of clinical applicability of the previously reported associations between genetic factors and stroke. This review is an update and an extensive analysis of the more recent association studies conducted in stroke. We evaluated a number of studies on several candidate genes (including F5, F2, FGA/FGB/FGG, F7, F13A1, vWF, F12, SERPINE1, ITGB3/PLA1/PLA2/ITGA2B, ITGA2, GP1BA, ACE, AGT, NOS3, APOE, LPL, PON1, PDE4D, ALOX5AP, MTHFR, MTR, and CBS), providing a final panel of genes and molecular variants. We categorized this panel in relation to the degree of association with stroke, supported by the results of meta-analyses and case-control studies. Our findings could represent a useful tool to address further molecular investigations and to realize more detailed meta-analyses.
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PMID:Genetic polymorphisms for the study of multifactorial stroke. 1842 1

It is well-known that there is an interplay between hemostasis, thrombosis and cancer. Functional DNA polymorphisms in genes encoding factors related to thrombosis have been associated with increased risk for oral squamous cell carcinoma (OSCC). The present study investigated the possible combinatory effect of 10 such polymorphisms as primary risk predictors for OSCC in a European population. Two groups including 160 patients with OSCC and 168 healthy controls of Greek and German origin were studied. The patient and control groups were comparable regarding ethnicity, age and gender. For all studied individuals, 10 genotypes of functional polymorphisms were investigated: 5,10-methylene tetrahydrofolate reductase (MTHFR) C677T, coagulation factor V (F5) Leiden, coagulation factor II (F2, also known as prothrombin) G20210A, coagulation factor XII (F12) C46T, coagulation factor XIII A1 subunit (F13A1) Val34Leu, serpine1 (SERPINE1, also known as plasminogen activator inhibitor-1) 4G/5G, protein Z (PROZ) -A13G, angiotensin I-converting enzyme (ACE) I/D, angiotensinogen (AGT) Met325Thr, and carboxypeptidase B2 (CPB2, also known as thrombin-activatable fibrinolysis inhibitor) C1040T. Multivariate logistic regression models were used in order to evaluate the relation and contribution of homozygous and heterozygous variant polymorphisms upon overall, early and advanced stages of OSCC. Five out of the studied polymorphisms, influencing the expression of SERPINE1 and ACE genes, as well as the activity of CPB2, F12 and F13 proteins, were recognized as significant predictive factors for OSCC. The 'mode of inheritance' regression model, in particular, revealed the low expression I allele of ACE to be a primary predictor in overall, early and advanced stages of oral cancer. Comparing the present findings with previous knowledge, possible interactions of these factors and their relation to the risk for OSCC development are discussed.
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PMID:Effect of thrombosis-related gene polymorphisms upon oral cancer: a regression analysis. 2402 47