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)

Intracerebral haemorrhage (ICH) is associated with the greatest morbidity and mortality of all stroke subtypes. Established risk factors for ICH include hypertension, alcohol use, current cigarette smoking, and use of oral anticoagulants and/or antiplatelet agents. Familial aggregation of ICH has been observed, and the heritability of ICH risk has been estimated at 44%. Few genes have been found to be associated with ICH at the population level, and much of the evidence for genetic risk factors for ICH comes from single studies conducted in relatively small and homogenous populations. In this Review, we summarize the current knowledge of genetic variants associated with primary spontaneous ICH. Two variants of the gene encoding apolipoprotein E (APOE) - which also contributes to the pathogenesis of cerebral amyloid angiopathy - are the most likely candidates for variants that increase the risk of ICH. Other promising candidates for risk alleles in ICH include variants of the genes ACE, PMF1/SLC25A44, COL4A2, and MTHFR. Other genetic variants, related to haemostasis, lipid metabolism, inflammation, and the CNS microenvironment, have been linked to ICH in single candidate gene studies. Although evidence for genetic contributions to the risk of ICH exists, we do not yet fully understand how and to what extent this information can be utilized to prevent and treat ICH.
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PMID:Genetic risk factors for spontaneous intracerebral haemorrhage. 2667 Feb 99

Differences in the incidence of spontaneous intracerebral hemorrhage (ICH) between ethnicities exist, with an estimated 42% of the variance explained by ethnicity itself. Caucasians have a higher proportion of lobar ICH (LICH, 15.4% of all ICH) than do Asians (3.4%). Alterations in the causal factor exposure between countries justify part of the ethnic variance in ICH incidence. One third of ICH risk can be explained by genetic variation; therefore, genetic differences between populations can partly explain the difference in ICH incidence. In this paper, we review the current knowledge of genetic variants associated with ICH in multiple ethnicities. Candidate gene variants reportedly associated with ICH were involved in the potential pathways of hypertension, vessel wall integrity, lipid metabolism, endothelial dysfunction, inflammation, platelet function, and coagulopathy. Furthermore, variations in APOE (in multiple ethnicities), PMF1/SLC25A44 (in European), ACE (in Asian), MTHFR (in multiple ethnicities), TRHDE (in European), and COL4A2 (in European) were the most convincingly associated with ICH. The majority of the associated genes provide small contributions to ICH risk, with few of them being replicated in multiple ethnicities.
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PMID:Genetic Polymorphisms Associated with Spontaneous Intracerebral Hemorrhage. 3051 45