Evidence map›Paper›PMID 15800845›Full record

ArticleAmerican journal of human genetics2005

Quantitative founder-effect analysis of French Canadian families identifies specific loci contributing to metabolic phenotypes of hypertension.

P Hamet, E Merlo, O Seda, U Broeckel, J Tremblay, M Kaldunski, D Gaudet, G Bouchard, B Deslauriers, F Gagnon and 15 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
7.6field-weighted citation impact, top 2% of its field
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

23 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.

  1. Pooled it
  2. Trial
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  16. A whole genome linkage scan for QTLs underlying peak bone mineral density.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2008
    Article
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  19. A comprehensive view of sex-specific issues related to cardiovascular disease.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2007
    Review
  20. 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

25 authors at 9 institutions in 3 countries.

P HametLaboratory of Molecular Medicine, Centre de recherche, Centre hospitalier de l'Universite de Montréal, Montéal, Québec, Canada. pavel.hamet@umontreal.ca
E Merlo
O Seda
U Broeckel
J Tremblay
M Kaldunski
D Gaudet
G Bouchard
B Deslauriers
F Gagnon
G Antoniol
Z Pausová
M Labuda
M Jomphe
F Gossard
G Tremblay
R Kirova
P Tonellato
S N Orlov
J Pintos
J Platko
T J Hudson
J D Rioux
T A Kotchen
A W Cowley
Centre Hospitalier de l’Université de Montréal · CAMedical College of Wisconsin · USBroad Institute · USCégep de Chicoutimi · CAUniversité du Québec à Chicoutimi · CAMcGill University · CAPolytechnique Montréal · CAUniversity of Ottawa · CAUniversity of Sannio · IT

Funding

RAT GENOME DATABASER01HL064541 · NHLBI · MEDICAL COLLEGE OF WISCONSIN · PI ANNE E. KWITEK · 1999 to 2026
$50.0M
NHLBI NIH HHS R01 HL064541
6 · The paper itself

Abstract

The Saguenay-Lac St-Jean population of Quebec is relatively isolated and has genealogical records dating to the 17th-century French founders. In 120 extended families with at least one sib pair affected with early-onset hypertension and/or dyslipidemia, we analyzed the genetic determinants of hypertension and related cardiovascular and metabolic conditions. Variance-components linkage analysis revealed 46 loci after 100,000 permutations. The most prominent clusters of overlapping quantitative-trait loci were on chromosomes 1 and 3, a finding supported by principal-components and bivariate analyses. These genetic determinants were further tested by classifying families by use of LOD score density analysis for each measured phenotype at every 5 cM. Our study showed the founder effect over several generations and classes of living individuals. This quantitative genealogical approach supports the notion of the ancestral causality of traits uniquely present and inherited in distinct family classes. With the founder effect, traits determined within population subsets are measurably and quantitatively transmitted through generational lineage, with a precise component contributing to phenotypic variance. These methods should accelerate the uncovering of causal haplotypes in complex diseases such as hypertension and metabolic syndrome.

Indexed as

Founder EffectGenetic Predisposition to DiseaseAdolescentAdultCanadaFemaleFranceGenetic LinkageGenetic VariationHumansHypertensionLod ScoreMaleMiddle AgedPhenotypeQuantitative Trait, Heritable

Identifiers

PMID15800845
PMCPMC1199371
OpenAlexW2091111091

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.