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Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.

Abstract：

:Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a marked decrease in systolic blood pressure, an increase in diastolic pressure, and tachycardia, all of which resolve when supine. We ascertained three families in which this disorder is inherited as an autosomal dominant trait with reduced penetrance. A genomewide scan was conducted in the two largest families, and three regions with multipoint LOD scores >1.5 were identified. Follow-up of these regions with additional markers in all three families yielded significant evidence of linkage at chromosome 18q. A maximum multipoint LOD score of 3.21 in the three families was observed at D18S1367, although the smallest family had negative LOD scores in the entire region. There was significant evidence of linkage in the presence of heterogeneity at 18q, with a maximum LOD score of 3.92 at D18S1367 in the two linked families. Identification of the gene responsible for orthostatic hypotensive disorder in these families may advance understanding of the general regulatory pathways involved in the continuum, from hypotension to hypertension, of blood pressure.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

DeStefano AL,Baldwin CT,Burzstyn M,Gavras I,Handy DE,Joost O,Martel T,Nicolaou M,Schwartz F,Streeten DH,Farrer LA,Gavras H

doi

10.1086/302096

subject

Has Abstract

pub_date

1998-11-01 00:00:00

pages

1425-30

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61574-2

journal_volume

63

pub_type

杂志文章

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