Evidence map›Paper›PMID 12638083›Full record

ArticleAmerican journal of human genetics2003

Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q.

Päivi Pajukanta, Hooman Allayee, Kelly L Krass, Ali Kuraishy, Aino Soro, Heidi E Lilja, Rebecca Mar, Marja-Riitta Taskinen, Ilpo Nuotio, Markku Laakso and 5 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
9.7field-weighted citation impact, top 1% 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

28 citing papers in PubMed, 96 citations in OpenAlex.

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  18. FOXC2 controls Ang-2 expression and modulates angiogenesis, vascular patterning, remodeling, and functions in adipose tissue.Proceedings of the National Academy of Sciences of the United States of America · 2008
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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

15 authors at 7 institutions in 3 countries.

Päivi PajukantaDepartment of Human Genetics, David Geffen School of Medicine at the University of California-Los Angeles, Los Angeles, CA 90095, USA. ppajukanta@mednet.ucla.edu
Hooman Allayee
Kelly L Krass
Ali Kuraishy
Aino Soro
Heidi E Lilja
Rebecca Mar
Marja-Riitta Taskinen
Ilpo Nuotio
Markku Laakso
Jerome I Rotter
Tjerk W A de Bruin
Rita M Cantor
Aldons J Lusis
Leena Peltonen
University of California, Los Angeles · USPublic Health Institute · USUniversity of Helsinki · FICedars-Sinai Medical Center · USKuopio University Hospital · FIMaastricht University Medical Centre · NLTurku University Hospital · FI

Funding

Systems genomics of metabolic syndrome traitsP01HL028481 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LUSIS, ALDONS JAKE · 1985 to 2019
$50.2M
UCLA Medical Genetics Training ProgramT32GM008243 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Julian Martinez-Agosto, STANLEY F. NELSON · 1987 to 2026
$6.8M
NHLBI NIH HHS HL-28481NHLBI NIH HHS P01 HL028481NIGMS NIH HHS 5-T32-GM08243-15NIGMS NIH HHS T32 GM008243
6 · The paper itself

Abstract

Several genomewide screens have been performed to identify novel loci predisposing to unfavorable serum lipid levels and coronary heart disease (CHD). We hypothesized that the accumulating data of these screens in different study populations could be combined to verify which of the identified loci truly harbor susceptibility genes. The power of this strategy has recently been demonstrated with other complex diseases, such as inflammatory bowel disease and asthma. We assessed the largely unknown genetic background of CHD by investigating the most common dyslipidemia predisposing to CHD, familial combined hyperlipidemia (FCHL), affecting 1%-2% of Western populations and 10%-20% of families with premature CHD. To be able to perform a combined data analysis, we unified the diagnostic criteria for FCHL and its component traits and combined the data from two genomewide scans performed in two populations, the Finns and the Dutch. As a result of our pooled data analysis, we identified three chromosomal regions, on chromosomes 2p25.1, 9p23, and 16q24.1, exceeding the statistical significance level of a LOD score >2.0. The 2p25.1 region was detected for the FCHL trait, and the 9p23 and 16q24.1 regions were detected for the low high-density lipoprotein cholesterol (HDL-C) trait. In addition, the previously recognized 1q21 region also obtained additional support in the other study sample, when the triglyceride trait was used. Analysis of the 16q24.1 region resulted in a statistically significant LOD score of 3.6 when the data from Finnish families with low HDL-C were included in the analysis. To search for the underlying gene in the 16q24.1 region, we investigated a novel functional and positional candidate gene, helix/forkhead transcription factor (FOXC2), by sequencing and by genotyping of two single-nucleotide polymorphisms in the families.

Indexed as

Chromosomes, Human, Pair 16Genome, HumanCholesterol, HDLChromosome MappingCoronary DiseaseDNA, SatelliteGenetic MarkersGenetic Predisposition to DiseaseGenotypeGermanyHumansHyperlipidemia, Familial CombinedLod ScoreNetherlandsRisk FactorsCholesterol, HDLDNA, SatelliteGenetic Markers

Identifiers

PMID12638083
PMCPMC1180353
OpenAlexW2007414978

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.