Evidence map›Paper›PMID 32190945›Full record

ArticleAmerican journal of human biology : the official journal of the Human Biology Council2020

A missense variant in CREBRF is associated with taller stature in Samoans.

Jenna C Carlson, Samantha L Rosenthal, Emily M Russell, Nicola L Hawley, Guangyun Sun, Hong Cheng, Take Naseri, Muagututi'a S Reupena, John Tuitele, Ranjan Deka and 3 more

Open access · greenAbstract read
In one paragraph

Article in American journal of human biology : the official journal of the Human Biology Council, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
2.7field-weighted citation impact, top 10% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. A stop-gain variant inHGG advances · 2023
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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

13 authors at 6 institutions in 5 countries.

Jenna C CarlsonDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0001-5483-0833
Samantha L RosenthalDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0002-5593-7656
Emily M RussellDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0001-9151-0310
Nicola L HawleyDepartment of Chronic Disease Epidemiology, School of Public Health, Yale University, New Haven, Connecticut, USA.ORCID 0000-0002-2601-3454
Guangyun SunDepartment of Environmental Health, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Hong ChengDepartment of Environmental Health, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Take NaseriMinistry of Health, Government of Samoa, Apia, Samoa.
Muagututi'a S ReupenaLutia i Puava ae Mapu i Fagalele, Apia, Samoa.
John TuiteleDepartment of Public Health, Government of American Samoa, Pago Pago, American Samoa.
Ranjan DekaDepartment of Environmental Health, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Stephen T McGarveyInternational Health Institute and Department of Epidemiology, School of Public Health, Brown University, Providence, Rhode Island, USA.ORCID 0000-0003-1233-6970
Daniel E WeeksDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0001-9410-7228
Ryan L MinsterDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0001-7382-6717
University of Pittsburgh · USUniversity of Cincinnati Medical Center · USNational University of Samoa · WSDepartment of Public Health · ASRhode Island Department of Health · USYale University · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
REPRODUCTIVE AND DEVELOPMENTAL TOXICOLOGY RESEARCHP30ES006096 · NIEHS · UNIVERSITY OF CINCINNATI · PI PINNEY, SUSAN MENGEL · 1992 to 2022
$35.4M
Integrated cellular, mouse and human research on a novel missense variant influencing adiposity in SamoansR01HL093093 · NHLBI · BROWN UNIVERSITY · PI MCGARVEY, STEPHEN T. · 2009 to 2019
$8.2M
Next Generation Association Studies of Adiposity in Samoans Enhanced by a Samoan-Specific Whole Genome Sequence Reference PanelR01HL133040 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Ryan Lee Minster · 2017 to 2026
$7.5M
GENOME SCAN FOR OBESITY SUSCEPTIBILITY LOCI IN SAMOANSR01DK059642 · NIDDK · BROWN UNIVERSITY · PI MCGARVEY, STEPHEN T. · 2000 to 2004
$2.6M
Training Program in Skin Biology and CancerT32CA175294 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KIRKWOOD, JOHN MUNN · 2014 to 2018
$973k
GENOME SCAN FOR NIDDM SUSCEPTIBILITY GENES AMONG SAMOANSR01DK055406 · NIDDK · UNIVERSITY OF CINCINNATI · PI DEKA, RANJAN · 1998 to 2002
$664k
GENETICS OF CVD RISK FACTORS IN SAMOANSR01HL052611 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KAMBOH, M. ILYAS · 1995 to 1998
–
ADIPOSITY INSULIN ELECTROLYTES AND SAMOAN BLOOD PRESSURER01AG009375 · NIA · MIRIAM HOSPITAL · PI MCGARVEY, STEPHEN T. · 1990 to 1994
–
NCATS NIH HHS UL1 TR001863NCI NIH HHS T32 CA175294NHLBI NIH HHS R01 HL052611NHLBI NIH HHS R01 HL093093NHLBI NIH HHS R01 HL133040NIA NIH HHS R01 AG009375NIDDK NIH HHS R01 DK055406NIDDK NIH HHS R01 DK059642NIEHS NIH HHS P30 ES006096
6 · The paper itself

Abstract

objectivesStudies have demonstrated that rs373863828, a missense variant in CREBRF, is associated with a number of anthropometric traits including body mass index (BMI), obesity, percent body fat, hip circumference, and abdominal circumference. Given the biological relationship between height and adiposity, we hypothesized that the effect of this variant on BMI might be due in part to an association of this variant with height.

methodsWe tested the hypothesis that minor allele of rs373863828 is associated with height in a Samoan population in two adult cohorts and in a separate cohort of children (age 5-18 years old) using linear mixed modeling.

resultsWe found evidence of a strong relationship between rs373863828 and greater mean height in Samoan adults (0.77 cm greater average height for each copy of the minor allele) with the same direction of effect in Samoan children.

conclusionsThese results suggest that the missense variant rs373863828 in CREBRF, first identified through an association with larger BMI, may be related to an underlying biological mechanism affecting overall body size including stature.

Indexed as

AdolescentAdultAmerican SamoaBody HeightChildChild, PreschoolCohort StudiesFemaleHumansMaleMiddle AgedMutation, MissenseSamoaTumor Suppressor ProteinsCREB3 regulatory factor, humanTumor Suppressor Proteins

Identifiers

PMID32190945
PMCPMC7501196
OpenAlexW3012120823

What OpenQuestion holds

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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.