Evidence map›Paper›PMID 28549500›Full record

ArticleAtherosclerosis2017

Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Mahtab Sharifi, Elizabeth Higginson, Sven Bos, Angela Gallivan, Darren Harvey, Ka Wah Li, Amali Abeysekera, Angela Haddon, Helen Ashby, Kate E Shipman and 7 more

Abstract readComparative StudyMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Atherosclerosis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing 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

37 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Mahtab SharifiCentre for Cardiovascular Genetics, University College London, The Rayne Institute, University Street, London, WC1E 6JF, UK; Department of Clinical Biochemistry, The Royal Free London NHS Foundation Trust, Pond Street, London, NW3 2QG, UK.
Elizabeth HigginsonDepartment of Clinical Biochemistry, Russells Hall Hospital, The Dudley Group NHS Foundation Trust, West Midlands, DY1 2HQ, UK.
Sven BosDepartment of Internal Medicine, Rotterdam, The Netherlands.
Angela GallivanDepartment of Clinical Biochemistry, The Royal Free London NHS Foundation Trust, Pond Street, London, NW3 2QG, UK.
Darren HarveyDepartment of Clinical Biochemistry, The Royal Free London NHS Foundation Trust, Pond Street, London, NW3 2QG, UK.
Ka Wah LiCentre for Cardiovascular Genetics, University College London, The Rayne Institute, University Street, London, WC1E 6JF, UK.
Amali AbeysekeraDepartment of Clinical Biochemistry, Russells Hall Hospital, The Dudley Group NHS Foundation Trust, West Midlands, DY1 2HQ, UK.
Angela HaddonDepartment of Clinical Biochemistry, Russells Hall Hospital, The Dudley Group NHS Foundation Trust, West Midlands, DY1 2HQ, UK.
Helen AshbyDepartment of Clinical Biochemistry, Russells Hall Hospital, The Dudley Group NHS Foundation Trust, West Midlands, DY1 2HQ, UK.
Kate E ShipmanDepartment of Clinical Biochemistry, Russells Hall Hospital, The Dudley Group NHS Foundation Trust, West Midlands, DY1 2HQ, UK.
Jackie A CooperCentre for Cardiovascular Genetics, University College London, The Rayne Institute, University Street, London, WC1E 6JF, UK.
Marta FutemaInherited Cardiovascular Diseases, Institute for Cardiovascular Science, University College London, Paul O'Gorman Building, 72 Huntley Street, London, WC1E 6DD, UK.
Jeanine E Roeters van LennepDepartment of Internal Medicine, Rotterdam, The Netherlands.
Eric J G SijbrandsDepartment of Internal Medicine, Rotterdam, The Netherlands.
Mourad LabibDepartment of Clinical Biochemistry, Russells Hall Hospital, The Dudley Group NHS Foundation Trust, West Midlands, DY1 2HQ, UK.
Devaki NairDepartment of Clinical Biochemistry, The Royal Free London NHS Foundation Trust, Pond Street, London, NW3 2QG, UK.
Steve E HumphriesCentre for Cardiovascular Genetics, University College London, The Rayne Institute, University Street, London, WC1E 6JF, UK. Electronic address: steve.humphries@ucl.ac.uk.

Funding

British Heart Foundation RC 93008British Heart Foundation RG/08/008/25291Department of Health
6 · The paper itself

Abstract

BACKGROUND AND

aimsFamilial hypercholesterolemia (FH) is a common inherited disorder of low density lipoprotein-cholesterol (LDL-C) metabolism. It is associated with higher risk of premature coronary heart disease. Around 60% of patients with a clinical diagnosis of FH do not have a detectable mutation in the genes causing FH and are most likely to have a polygenic cause for their raised LDL-C. We assessed the degree of preclinical atherosclerosis in treated patients with monogenic FH versus polygenic hypercholesterolemia.

methodsFH mutation testing and genotypes of six LDL-C-associated single nucleotide polymorphisms (SNPs) were determined using routine methods. Those with a detected mutation (monogenic) and mutation-negative patients with LDL-C SNP score in the top two quartiles (polygenic) were recruited. Carotid intima media thickness (IMT) was measured by B-mode ultrasound and the coronary artery calcium (CAC) score was performed in three lipid clinics in the UK and the Netherlands.

results86 patients (56 monogenic FH, 30 polygenic) with carotid IMT measurement, and 166 patients (124 monogenic, 42 polygenic) with CAC score measurement were examined. After adjustment for age and gender, the mean of all the carotid IMT measurements and CAC scores were significantly greater in the monogenic than the polygenic patients [carotid IMT mean (95% CI): 0.74 mm (0.7-0.79) vs. 0.66 mm (0.61-0.72), p = 0.038 and CAC score mean (95%): 24.5 (14.4-41.8) vs. 2.65 (0.94-7.44), p = 0.0004].

conclusionsIn patients with a diagnosis of FH, those with a monogenic cause have a higher severity of carotid and coronary preclinical atherosclerosis than those with a polygenic aetiology.

Indexed as

Multifactorial InheritanceMutationPolymorphism, Single NucleotideAdultAgedAsymptomatic DiseasesBiomarkersCarotid Artery DiseasesCarotid Intima-Media ThicknessCholesterol, LDLComputed Tomography AngiographyCoronary AngiographyCoronary Artery DiseaseDNA Mutational AnalysisEnglandFemaleBiomarkersCholesterol, LDLCarotid intima media thicknessCoronary artery calcificationFamilial hypercholesterolemiaPolygenic hypercholesterolemiaPreclinical atherosclerosis

Identifiers

PMID28549500
PMCPMC5567405

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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.