Evidence map›Paper›PMID 14872410›Full record

ArticleAmerican journal of human genetics2004

Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3.

Monique van der Voet, Jane M Olson, Helena Kuivaniemi, Doreen M Dudek, Magdalena Skunca, Antti Ronkainen, Mika Niemelä, Juha Jääskeläinen, Juha Hernesniemi, Katariina Helin and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
8.3field-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

15 citing papers in PubMed, 95 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Molecular pathology of aneurysms.Surgical neurology · 2008
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. The genetics of intracranial aneurysms.Journal of human genetics · 2006
    Review
  14. Article
  15. 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

13 authors at 3 institutions in 2 countries.

Monique van der VoetCenter for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Jane M Olson
Helena Kuivaniemi
Doreen M Dudek
Magdalena Skunca
Antti Ronkainen
Mika Niemelä
Juha Jääskeläinen
Juha Hernesniemi
Katariina Helin
Eira Leinonen
Moumita Biswas
Gerard Tromp
Helsinki University Hospital · FIWayne State University · USCase Western Reserve University · US

Funding

X-LINKED EXTENSION OF THE REVISED HASEMAN-ELSTON ALGORITHM FOR LINKAGE ANALYSISP41RR003655 · NCRR · LOUISIANA STATE UNIV HSC NEW ORLEANS · PI ELSTON, ROBERT C. · 1987 to 2011
$11.5M
Robust Linkage Methods for Human Pedigree DataR01HG001577 · NHGRI · CASE WESTERN RESERVE UNIVERSITY · PI GODDARD, KATRINA A · 2001 to 2004
$758k
DNA LINKAGE ANALYSIS IN INTRACRANIAL ANEURYSM FAMILIESR01NS034395 · NINDS · WAYNE STATE UNIVERSITY · PI TROMP, GERARDUS C · 1998 to 2001
$532k
ROBUST LINKAGE METHODS FOR HUMAN PEDIGREE DATAR29HG001577 · NHGRI · CASE WESTERN RESERVE UNIVERSITY · PI OLSON, JANE M. · 1996 to 2000
$101k
NCRR NIH HHS P41 RR003655NCRR NIH HHS RR03655NHGRI NIH HHS HG01577NHGRI NIH HHS R01 HG001577NHGRI NIH HHS R29 HG001577NINDS NIH HHS NS034395NINDS NIH HHS R01 NS034395
6 · The paper itself

Abstract

We recently reported a two-stage genomewide screen of 48 sib pairs affected with intracranial aneurysms (IAs) that revealed suggestive linkage to chromosome 19q13, with a LOD score of 2.58. The region supporting linkage spanned approximately 22 cM. Here, we report a follow-up study of the locus at 19q13, with a sample size expanded to 139 affected sib pairs, along with 83 other affected relative pairs (222 affected relative pairs in total). Suggestive linkage was observed in both independent sample sets, and linkage was significant in the combined set at 70 cM (LOD score 3.50; P=.00006) and at 80 cM (LOD score 3.93; P=.00002). Linkage was highly significant at 70 cM (LOD score 5.70; P=.000001) and at 80 cM (LOD score 3.99; P=.00005) when a covariate measuring the number of affected individuals in the nuclear family was included. To evaluate further the contribution to the linkage signal from families with more than two affected relatives, we performed model-based linkage analysis with a recessive model and a range of penetrances, and we obtained maximum linkage at 70 cM (LOD score 3.16; P=.00007) with a penetrance of 0.3. We then estimated location by using GENEFINDER. The most likely location for a gene predisposing to IAs in the Finnish population is in a region with a 95% confidence interval of 11.6 cM (P=.00007) centered 2.0 cM proximal to D19S246.

Indexed as

Chromosomes, Human, Pair 19Genetic LinkageGenetic Predisposition to DiseaseFemaleFinlandGenetic MarkersHumansIntracranial AneurysmLod ScoreMaleMicrosatellite RepeatsGenetic Markers

Identifiers

PMID14872410
PMCPMC1182270
OpenAlexW1974623376

What OpenQuestion holds

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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.