Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Echocardiographic measures of cardiac target organ damage, including left ventricular mass and relative wall thickness, are powerful predictors of heart disease morbidity and mortality. The aim of this study is to investigate whether single nucleotide polymorphisms in candidate genes for hypertension and heart disease have effects on quantitative measures of hypertensive cardiac target organ damage, independent of their actions on blood pressure levels, in a cohort of hypertensive black sibships. To detect replication of genetic effects across samples, this study took advantage of the affected sibling pair design and created 2 samples, each with 448 unrelated individuals. As part of the Genetic Epidemiology Network of Arteriopathy Study, subjects were screened using 2D echocardiography, and 395 single nucleotide polymorphisms in 80 candidate genes were genotyped. Linear regression was used to test for single nucleotide polymorphisms significantly associated with left ventricular mass index (g/m(2.7)) or relative wall thickness after adjusting for associated covariates. Significant single nucleotide polymorphisms were subsequently tested for consistent directionality in genotype-phenotype relationships across samples. Three single nucleotide polymorphisms, 1 each in the APOE, SCN7A, and SLC20A1 genes, were significantly associated in both samples with left ventricular mass index and had replicate genotype-phenotype relationships. One in the ADRB1 gene was significantly associated with relative wall thickness with replicate effects in both samples. We identified genetic variation that significantly influences left ventricular traits with replicable effects in a cohort of hypertensive, black siblings.
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PMID:Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks. 1733 38

Peripheral circulating lymphocytes are easily accessible cells for investigating changes in beta-adrenergic receptors (ADRBs) in humans, but previous reports indicate that these cells only express ADRB2. This study aimed to investigate whether ADRB1 and ADRB3 were expressed in peripheral lymphocytes and the changes of ADRBs in congestive heart failure. Our study demonstrates that ADRB1, ADRB2, and ADRB3 coexist in human peripheral lymphocytes, with differential binding property and expression level. Patients with congestive heart failure had significantly decreased total ADRB density and mRNA levels of ADRB1 and ADRB2 genes, but not ADRB3, compared with healthy subjects. The levels of mRNA of ADRB1 and ADRB2 in peripheral lymphocytes from patients with congestive heart disease were significantly increased after drug treatment. Our study, for the first time, indicates that human peripheral lymphocytes coexpress ADRB1, ADRB2, and ADRB3, which has important implications for precisely predicting clinical response to drug therapy in congestive heart failure.
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PMID:Evidence for coexistence of three beta-adrenoceptor subtypes in human peripheral lymphocytes. 1736 Nov 23

In human beings, genetic polymorphisms within the beta-1 adrenergic receptor (ADRB1) gene have been associated with variable pharmacologic responses to beta blocker therapy. Beta-blockers are commonly given to cats with heart disease, particularly hypertrophic cardiomyopathy, a common cause of feline heart disease. We hypothesized that polymorphisms are present in the feline ADRB1 gene, which could result in an altered pharmacologic response to beta-blocker therapy. We sequenced the feline ADRB1 gene in 42 cats of five breeds. We identified three polymorphisms within the ADRB1 gene. Two polymorphisms did not change the amino acid produced and are unlikely to be clinically significant. A third polymorphism identified was an AA/CC substitution at the 830-831 base pair sites. This alteration changed the amino acid produced from proline to glutamine at position 277 and computer modeling predicts an altered protein structure. Further study is warranted to determine if this polymorphism alters response to beta blocker therapy.
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PMID:Identification of beta-1 adrenergic receptor polymorphisms in cats. 2166 47