Evidence map›Paper›PMID 17357083›Full record

ArticleAmerican journal of human genetics2007

Medical sequencing at the extremes of human body mass.

Nadav Ahituv, Nihan Kavaslar, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, Sybil Hebert, Heather Doelle, Baran Ersoy, Gregory Kryukov, Steffen Schmidt and 9 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
139citing papers in PubMed, 2 pooled it
–field-weighted citation impact, top 95% 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

139 citing papers in PubMed, 2 syntheses or guidelines pooled it, 0 citations in OpenAlex.

  1. Pooled it
  2. A genome-wide association study of aging.Neurobiology of aging · 2011
    Pooled it
  3. Article
  4. Article
  5. Review
  6. Review
  7. In Silico Examination of Single Nucleotide Missense Mutations inInternational journal of molecular sciences · 2023
    Article
  8. Article
  9. Article
  10. Arcuate Nucleus Overexpression of NHLH2 Reduces Body Mass and Attenuates Obesity-Associated Anxiety/Depression-like Behavior.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Genetic variation in theProceedings of the National Academy of Sciences of the United States of America · 2018
    Article
  18. Article
  19. Review
  20. Article

79 more citing papers are in PubMed but not listed here.

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

19 authors at 1 institution in 1 country.

Nadav AhituvGenomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.
Nihan Kavaslar
Wendy Schackwitz
Anna Ustaszewska
Joel Martin
Sybil Hebert
Heather Doelle
Baran Ersoy
Gregory Kryukov
Steffen Schmidt
Nir Yosef
Eytan Ruppin
Roded Sharan
Christian Vaisse
Shamil Sunyaev
Robert Dent
Jonathan Cohen
Ruth McPherson
Len A Pennacchio
Lawrence Berkeley National Laboratory · US

Funding

The Melanocortin-4 Receptor in Human ObesityR01DK060540 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI CHRISTIAN VAISSE · 2002 to 2026
$7.5M
Role of Pro-opiomelanocortin mutations in human obesityR01DK068152 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI VAISSE, CHRISTIAN · 2005 to 2007
$908k
NIDDK NIH HHS R01 DK060540NIDDK NIH HHS R01 DK068152
6 · The paper itself

Abstract

Body weight is a quantitative trait with significant heritability in humans. To identify potential genetic contributors to this phenotype, we resequenced the coding exons and splice junctions of 58 genes in 379 obese and 378 lean individuals. Our 96-Mb survey included 21 genes associated with monogenic forms of obesity in humans or mice, as well as 37 genes that function in body weight-related pathways. We found that the monogenic obesity-associated gene group was enriched for rare nonsynonymous variants unique to the obese population compared with the lean population. In addition, computational analysis predicted a greater fraction of deleterious variants within the obese cohort. Together, these data suggest that multiple rare alleles contribute to obesity in the population and provide a medical sequencing-based approach to detect them.

Indexed as

Genetic VariationAdultBody WeightExonsFemaleGene FrequencyGenesHumansMaleMiddle AgedObesityReceptor, Melanocortin, Type 4Sequence Analysis, DNAMC4R protein, humanReceptor, Melanocortin, Type 4

Identifiers

PMID17357083
PMCPMC1852707
OpenAlexW1515251601

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.