Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085580 (essential hypertension)
 14,686 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dopamine has been shown to influence renal sodium excretion through a direct interaction with the dopamine receptor (DR). The dopamine D1 receptor (DRD1) has been localized to the proximal tubules and is known to increase sodium excretion by inhibiting Na-H exchanger and Na,K-ATPase activity. Defective renal dopamine production and/or DR function have been reported in essential hypertension (EH) as well as in genetic models of animal hypertension. With a restriction fragment length polymorphism of the DRD1 gene, we performed an association study in patients with EH. One hundred thirty-one subjects with EH and 136 age-matched normotensive (NT) controls were studied. Polymerase chain reaction was used to amplify the A-48G polymorphic site in the DRD1 gene, and restriction analysis of the polymerase chain reaction product was used to score the A and G alleles. The allele frequencies in the EH group and NT group were then compared. The G allele was observed more frequently in the EH group than in the NT group, and the allele frequencies in the 2 groups differed significantly (chi(2)=6.5, P=0.01). Multiple logistic linear regression analysis revealed that the genotype frequencies of A/A, A/G, and G/G differed significantly (odds ratio=2.1; 95% CI=1.19 to 3.66) between the EH and NT groups. EH patients who possess the G allele had a higher diastolic blood pressure than those lacking the G allele (P<0.01). Thus, the alleles detected by this restriction fragment length polymorphism in the DRD1 gene are associated with EH, and they appear to influence the diastolic blood pressure of Japanese EH patients.
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PMID:Dopamine D1 receptor gene polymorphism is associated with essential hypertension. 1094 75

The dopamine receptor type 1 (DRD1) has been implicated in the development of hypertension in humans as well as in animal models of spontaneous hypertension. We screened the entire coding and promoter region of the human DRD1 receptor for polymorphisms to analyze their association with hypertension. The allele frequencies of two common single-nucleotide polymorphisms, A-48G and G-94A were determined in 493 hypertensive patients and 209 normotensive controls. Allele frequencies did not differ for both polymorphisms between the two groups (-48 G-allele in hypertension = 0.37; -48 G-allele in normotension = 0.36; -94 A-allele in hypertension = 0.14; -94 A-allele in normotension = 0.10). Our findings in these Caucasian patients are in contrast to a recent Japanese study that revealed a significant association of the -48 G-allele with hypertension. Thus, racial differences may play an important role concerning the association of variants in the dopamine receptor type 1 gene with essential hypertension.
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PMID:Ethnic origin determines the impact of genetic variants in dopamine receptor gene (DRD1) concerning essential hypertension. 1560 27