RGD Reference Report - Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension. - Rat Genome Database

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Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension.

Authors: Benjafield, AV  Katyk, K  Morris, BJ 
Citation: Benjafield AV, etal., Clin Genet. 2003 Nov;64(5):433-8.
RGD ID: 1580950
Pubmed: PMID:14616768   (View Abstract at PubMed)

In a study of the genetic basis of essential hypertension (HT), we tested four variants in three candidate genes not previously investigated in HT. These encoded the endothelin receptor type A (EDNRA), which transduces most of the vasoconstrictive properties of endothelin-1, protein kinase lysine deficient 4 (WNK4) whose gene resides in a HT linkage region on chromosome 17, and FK506-binding protein 1B (FKBP1B), which can reduce blood pressure by increasing nitric oxide. The variants were: for EDNRA, a G-->A in the 5'-UTR and C-->T in exon 8; for WNK4, a tetranucleotide repeat in intron 10; and for FKBP1B, a T-->C in exon 4. Subjects were Anglo-Celtic white Australians and included 155 HTs with two HT parents and 245 normotensives (NTs) whose parents were both NT. For EDNRA, we found a weak association of the exon 8 variant with HT (p = 0.019) and association of the 5'-UTR variant with elevation in systolic and diastolic blood pressure (BP) (p = 0.038 and 0.0031, respectively). The WNK4 intron 10 variant and the FKP1B exon 4 variant showed no association with HT, but tracking with BP was seen for the latter (p = 0.015 and 0.0011 for systolic and diastolic BP, respectively). Our study thus suggests possible involvement of EDNRA in essential HT.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hypertension  IAGP 1580950 RGD 
hypertension  ISOEDNRA (Homo sapiens)1580950; 1580950 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ednra  (endothelin receptor type A)

Genes (Mus musculus)
Ednra  (endothelin receptor type A)

Genes (Homo sapiens)
EDNRA  (endothelin receptor type A)


Additional Information