Sibpair studies implicate chromosome 18 in essential hypertension
Rutherford, S., Johnson , M. P., & Griffiths, Lyn R. (2004) Sibpair studies implicate chromosome 18 in essential hypertension. American Journal of Medical Genetics, 126 A(3), pp. 241-247.
Interest in chromosome 18 in essential hypertension comes from comparative mapping of rat blood pressure quantitative trait loci (QTL), familial orthostatic hypotensive syndrome studies, and essential hypertension pedigree linkage analyses indicating that a locus or loci on human chromosome 18 may play a role in hypertension development. To further investigate involvement of chromosome 18 in human essential hypertension, the present study utilized a linkage scan approach to genotype twelve microsatellite markers spanning human chromosome 18 in 177 Australian Caucasian hypertensive (HT) sibling pairs. Linkage analysis showed significant excess allele sharing of the D18S61 marker when analyzed with SPLINK (P=0.00012), ANALYZE (Sibpair) (P=0.0081), and also with MAPMAKER SIBS (P=0.0001). Similarly, the D18S59 marker also showed evidence for excess allele sharing when analyzed with SPLINK (P=0.016), ANALYZE (Sibpair) (P=0.0095), and with MAPMAKER SIBS (P = 0.014). The adenylate cyclase activating polypeptide 1 gene (ADCYAP1) is involved in vasodilation and has been co-localized to the D18S59 marker. Results testing a microsatellite marker in the 3′ untranslated region of ADCYAP1 in age and gender matched HT and normotensive (NT) individuals showed possible association with hypertension (P = 0.038; Monte Carlo P = 0.02), but not with obesity. The present study shows a chromosome 18 role in essential hypertension and indicates that the genomic region near the ADCYAP1 gene or perhaps the gene itself may be implicated. Further investigation is required to conclusively determine the extent to which ADCYAP1 polymorphisms are involved in essential hypertension. © 2003 Wiley-Liss, Inc.
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|Item Type:||Journal Article|
|Keywords:||Association, Genetics, Genome scan, Hypertension, Linkage, adenylate cyclase activating polypeptide 1 gene, gene product, unclassified drug, 3' untranslated region, adult, age distribution, aged, allelism, article, blood sampling, Caucasian, chromosome 18, comparative gene mapping, controlled study, essential hypertension, female, gene location, genetic linkage, genetic polymorphism, genotype, human, intermethod comparison, major clinical study, male, microsatellite marker, Monte Carlo method, obesity, priority journal, quantitative trait locus, sex difference, sibling, vasodilatation, Alleles, Australia, Chromosomes, Human, Pair 18, European Continental Ancestry Group, Female, Genotype, Humans, Hypertension, Linkage (Genetics), Linkage Disequilibrium, Male, Microsatellite Repeats, Neuropeptides, Obesity, Pituitary Adenylate Cyclase-Activating Polypeptide, Siblings|
|Divisions:||Current > Institutes > Institute of Health and Biomedical Innovation|
|Copyright Owner:||Copyright 2004 John Wiley & Sons, Inc.|
|Deposited On:||08 Oct 2013 02:20|
|Last Modified:||11 Nov 2013 21:34|
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