Evidence map›Paper›PMID 35393526›Full record

ArticleCommunications biology2022

An Amish founder population reveals rare-population genetic determinants of the human lipidome.

May E Montasser, Stella Aslibekyan, Vinodh Srinivasasainagendra, Hemant K Tiwari, Amit Patki, Minoo Bagheri, Tobias Kind, Dinesh Kumar Barupal, Sili Fan, James Perry and 6 more

Abstract read
In one paragraph

Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 2 pooled it
–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

14 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Use of Mendelian Randomization to Unveil Metabolic Markers inJournal of Korean medical science · 2026
    Pooled it
  2. Pooled it
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  9. Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023
    Article
  10. Review
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  12. Review
  13. Sex Hormone Candidate Gene Polymorphisms Are Associated with Endometriosis.International journal of molecular sciences · 2022
    Article
  14. 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

16 authors.

May E MontasserDivision of Endocrinology, Diabetes and Nutrition and Program for Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA. mmontass@som.umaryland.edu.ORCID http://orcid.org/0000-0002-9558-5456
Stella AslibekyanDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
Vinodh SrinivasasainagendraDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
Hemant K TiwariDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
Amit PatkiDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
Minoo BagheriDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
Tobias KindWest Coast Metabolomics Center, Davis, CA, USA.
Dinesh Kumar BarupalWest Coast Metabolomics Center, Davis, CA, USA.
Sili FanWest Coast Metabolomics Center, Davis, CA, USA.
James PerryDivision of Endocrinology, Diabetes and Nutrition and Program for Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0001-5050-2074
Kathleen A RyanDivision of Endocrinology, Diabetes and Nutrition and Program for Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-1158-8455
Alan R ShuldinerRegeneron Genetics Center, LLC., Tarrytown, NY, USA.
Donna K ArnettDepartment of Epidemiology, University of Kentucky, Lexington, KY, USA.ORCID http://orcid.org/0000-0003-2219-657X
Amber L BeitelsheesDivision of Endocrinology, Diabetes and Nutrition and Program for Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.
Marguerite Ryan IrvinDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
Jeffrey R O'ConnellDivision of Endocrinology, Diabetes and Nutrition and Program for Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.

Funding

Genetic and Environmental Determinants of TriglyceridesU01HL072524 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI ARNETT, DONNA K · 2002 to 2008
$11.9M
Genome-wide Search for CVD Gene-Environment InteractionsU01HL072515 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2002 to 2008
$11.2M
Genomewide Association Study of Lipid Response to Fenofibrate and Dietary FatR01HL091357 · NHLBI · UNIVERSITY OF KENTUCKY · PI ARNETT, DONNA K · 2008 to 2018
$5.8M
VGM: Vanderbilt Genomic Medicine Training ProgramT32HG008341 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Nancy J Cox, Joseph F. Peterson · 2016 to 2026
$2.8M
High-performance mixed model toolset for integrative omics analysis of big dataU01HL137181 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI O'CONNELL, JEFFREY R · 2017 to 2019
$1.8M
Genome-wide Association in Families: Data Integrity, Design and Methods IssueU01HL084756 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI O'CONNELL, JEFFREY R · 2006 to 2008
$880k
NHGRI NIH HHS T32 HG008341NHLBI NIH HHS R01 HL091357NHLBI NIH HHS U01 HL072515NHLBI NIH HHS U01 HL072524NHLBI NIH HHS U01 HL084756NHLBI NIH HHS U01 HL137181
6 · The paper itself

Abstract

Identifying the genetic determinants of inter-individual variation in lipid species (lipidome) may provide deeper understanding and additional insight into the mechanistic effect of complex lipidomic pathways in CVD risk and progression beyond simple traditional lipids. Previous studies have been largely population based and thus only powered to discover associations with common genetic variants. Founder populations represent a powerful resource to accelerate discovery of previously unknown biology associated with rare population alleles that have risen to higher frequency due to genetic drift. We performed a genome-wide association scan of 355 lipid species in 650 individuals from the Amish founder population including 127 lipid species not previously tested. To the best of our knowledge, we report for the first time the lipid species associated with two rare-population but Amish-enriched lipid variants: APOB_rs5742904 and APOC3_rs76353203. We also identified novel associations for 3 rare-population Amish-enriched loci with several sphingolipids and with proposed potential functional/causal variant in each locus including GLTPD2_rs536055318, CERS5_rs771033566, and AKNA_rs531892793. We replicated 7 previously known common loci including novel associations with two sterols: androstenediol with UGT locus and estriol with SLC22A8/A24 locus. Our results show the double power of founder populations and detailed lipidome to discover novel trait-associated variants.

Indexed as

AmishFounder EffectGenetics, PopulationLipidomicsDNA-Binding ProteinsGenome-Wide Association StudyHumansLipidsNuclear ProteinsTranscription FactorsAKNA protein, humanDNA-Binding ProteinsLipidsNuclear ProteinsTranscription Factors

Identifiers

PMID35393526
PMCPMC8989972

What OpenQuestion holds

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LicenceCC BY
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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.