Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lower plasma levels of high-density lipoprotein cholesterol (HDL-C) are associated with the metabolic syndrome (insulin resistance, obesity, hypertension) and higher cardiovascular risk. Recent association studies have suggested rare alleles responsible for very low HDL-C levels. However, for individual cardiovascular risk factors, the majority of population-attributable deaths are associated with average rather than extreme levels. Therefore, genetic factors that determine the population variation of HDL-C are particularly relevant. We undertook genome-wide and fine mapping to identify linkage to HDL-C in healthy adult nuclear families from the Victorian Family Heart Study. In 274 adult sibling pairs (average age 24 years, average plasma HDL-C 1.4 mmol/l), genome-wide mapping revealed suggestive evidence for linkage on chromosome 4 (Z score = 3.5, 170 cM) and nominal evidence for linkage on chromosomes 1 (Z = 2.1, 176 cM) and 6 (Z = 2.6, 29 cM). Using genotypes and phenotypes from 932 subjects (233 of the sibling pairs and their parents), finer mapping of the locus on chromosome 4 strengthened our findings with a peak probability (Z score = 3.9) at 169 cM. Our linkage data suggest that chromosome 4q32.3 is linked with normal population variation in HDL-C. This region coincides with previous reports of linkage to apolipoprotein AII (a major component of HDL) and encompasses the gene encoding the carboxypeptidase E, relevant to the metabolic syndrome and HDL-C. These findings are relevant for further understanding of the genetic determinants of cardiovascular risk at a population level.
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PMID:Genome-wide linkage analysis of population variation in high-density lipoprotein cholesterol. 1657 Feb

Essential edema-proteinuria-hypertension (EPH) gestosis still represents an important obstetrical problem. We have investigated the activity of carboxypeptidase H (CPH), phenylmethylsulfonyl fluoride inhibited carboxypeptidase (PMSF-CP), carboxypeptidase M (CPM) and angiotensin-converting enzyme (ACE), the main carboxypeptidases in human placenta under normal conditions and mild EPH-gestosis. Gestosis was accompanied by the decrease in activity of the enzymes involved into metabolism of regulatory peptides (ACE, CPH, PMSF-CP, CPM) compared with their activity in placenta under physiological pregnancy. Correlation analysis revealed positive correlation between placental CPH and CPM (r = 0.2735*) in EPH-gestosis. These findings suggest involvement of placental proteases into formation of compensatory-adaptive reactions in the fetoplacental complex at EPH-gestosis; the data obtained may be also employed for the development of methods of prophylaxis and corrections of metabolic impairments in pathology of pregnancy.
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PMID:[Proteolytic activity of placenta with EPH-gestosis]. 2001 98