Evidence map›Paper›PMID 23482652›Full record

ArticleJournal of lipid research2013

Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol.

Daniel S Kim, Amber A Burt, Jane E Ranchalis, Ella R Jarvik, Elisabeth A Rosenthal, Thomas S Hatsukami, Clement E Furlong, Gail P Jarvik

Open access · hybridAbstract read
In one paragraph

Article in Journal of lipid research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
4.2field-weighted citation impact, top 6% 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, 38 citations in OpenAlex.

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  7. Antioxidants (Basel, Switzerland) · 2021
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  14. Association between polymorphisms in the APOB gene and hyperlipidemia in the Chinese Yugur population.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2017
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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

8 authors at 2 institutions in 1 country.

Daniel S KimDepartment of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA.
Amber A Burt
Jane E Ranchalis
Ella R Jarvik
Elisabeth A Rosenthal
Thomas S Hatsukami
Clement E Furlong
Gail P Jarvik
University of Washington Medical Center · USUniversity of Washington · US

Funding

INTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2M
Prediction and Progression of Carotid Artery DiseaseR01HL067406 · NHLBI · UNIVERSITY OF WASHINGTON · PI JARVIK, GAIL PAIRITZ · 2002 to 2009
$5.1M
Pharmacogenomics of serotonin-specific reuptake inhibitorsF31MH101905 · NIMH · UNIVERSITY OF WASHINGTON · PI KIM, DANIEL SEUNG · 2013 to 2014
$70k
NHGRI NIH HHS 5T31HG-000035-18NHGRI NIH HHS T32 HG000035NHLBI NIH HHS R01 HL067406NHLBI NIH HHS R01 HL-67406NIMH NIH HHS F31 MH101905
6 · The paper itself

Abstract

Cardiovascular disease (CVD) is the leading cause of death in developed countries. Plasma cholesterol level is a key risk factor in CVD pathogenesis. Genetic and dietary variation both influence plasma cholesterol; however, little is known about dietary interactions with genetic variants influencing the absorption and transport of dietary cholesterol. We sought to determine whether gut expressed variants predicting plasma cholesterol differentially affected the relationship between dietary and plasma cholesterol levels in 1,128 subjects (772/356 in the discovery/replication cohorts, respectively). Four single nucleotide polymorphisms (SNPs) within three genes (APOB, CETP, and NPC1L1) were significantly associated with plasma cholesterol in the discovery cohort. These were subsequently evaluated for gene-by-environment (GxE) interactions with dietary cholesterol for the prediction of plasma cholesterol, with significant findings tested for replication. Novel GxE interactions were identified and replicated for two variants: rs1042034, an APOB Ser4338Asn missense SNP and rs2072183 (in males only), a synonymous NPC1L1 SNP in linkage disequilibrium with SNPs 5' of NPC1L1. This study identifies the presence of novel GxE and gender interactions implying that differential gut absorption is the basis for the variant associations with plasma cholesterol. These GxE interactions may account for part of the "missing heritability" not accounted for by genetic associations.

Indexed as

AdultApolipoproteins BCholesterolCholesterol, DietaryDietFemaleGene-Environment InteractionGenetic Association StudiesHumansLinkage DisequilibriumMaleMembrane ProteinsMembrane Transport ProteinsPolymorphism, Single NucleotideApolipoproteins BCholesterolCholesterol, DietaryMembrane ProteinsMembrane Transport ProteinsNPC1L1 protein, human

Identifiers

PMID23482652
PMCPMC3622343
OpenAlexW2003622722

What OpenQuestion holds

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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.