Evidence map›Paper›PMID 9792870›Full record

ArticleAmerican journal of human genetics1998

Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.

A L DeStefano, C T Baldwin, M Burzstyn, I Gavras, D E Handy, O Joost, T Martel, M Nicolaou, F Schwartz, D H Streeten and 2 more

Abstract read
In one paragraph

Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023
    Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. The SLC14 gene family of urea transporters.Pflugers Archiv : European journal of physiology · 2004
    Review
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

A L DeStefanoDepartment of Neurology, Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA.
C T Baldwin
M Burzstyn
I Gavras
D E Handy
O Joost
T Martel
M Nicolaou
F Schwartz
D H Streeten
L A Farrer
H Gavras

Funding

Multidisciplinary Training in Cardiovascular ResearchT32HL007224 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI HAMBURG, NAOMI MIRIAM, WAINFORD, RICHARD DAVID · 1985 to 2020
$12.3M
VASCULAR AND CARDIAC INJURY IN HYPERTENSIVE ANIMAL MODELSP50HL055001 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI GAVRAS, HARALAMBOS GAVRAS · 1996 to 2005
$11.7M
NHLBI NIH HHS HL07224NHLBI NIH HHS P50 HL55001
6 · The paper itself

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.

Indexed as

Chromosomes, Human, Pair 18Blood PressureChromosome MappingDNAFemaleGenes, DominantGenetic LinkageGenetic MarkersHeart RateHumansHypotension, OrthostaticLod ScoreMalePedigreePostureDNAGenetic Markers

Identifiers

PMID9792870
PMCPMC1377553

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.