Evidence map›Paper›PMID 41861830›Full record

ArticleAmerican journal of human genetics2026

Genetics of skeletal proportions across two different populations.

Eric Bartell, Kuang Lin, Kristin Tsuo, Wei Gan, Sailaja Vedantam, Joanne B Cole, John M Baronas, Loic Yengo, Eirini Marouli, Tiffany Amariuta and 9 more

Erratum issuedAbstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Eric BartellDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
Kuang LinNuffield Department of Population Health, University of Oxford, Headington OX37LF, UK.
Kristin TsuoDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Wei GanNuffield Department of Population Health, University of Oxford, Headington OX37LF, UK; Genetics Department, Novo Nordisk Research Centre Oxford, Innovation Building, Old Road Campus, Headington OX37LQ, UK.
Sailaja VedantamProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
Joanne B ColeProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA; Program in Metabolism, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Colorado Center for Personalized Medicine & Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
John M BaronasDivision of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
Loic YengoInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4000, Australia.
Eirini MarouliWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London E12AD, UK.
Tiffany AmariutaHalıcıoğlu Data Science Institute, University of California, San Diego, La Jolla, CA 92093, USA; Department of Medicine, Division of Biomedical Informatics, University of California, San Diego, La Jolla, CA 92093, USA.
Zhengming ChenNuffield Department of Population Health, University of Oxford, Headington OX37LF, UK.
Liming LiDepartment of Epidemiology & Biostatistics, School of Public Health, Peking University, Xueyuan Road, Haidian District, Beijing 100191, China; Peking University Center for Public Health and Epidemic Preparedness and Response, Beijing 100191, China; Key Laboratory of Epidemiology of Major Diseases (Peking University), Ministry of Education, Beijing 100191, China.
GIANT consortium
China Kadoorie Biobank Collaborative Group
Nora E RenthalDivision of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
Christina M JacobsenDivision of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
Rany M SalemHerbert Wertheim School of Public Health, University of California, San Diego, La Jolla, CA 92093, USA.
Robin G WaltersNuffield Department of Population Health, University of Oxford, Headington OX37LF, UK.
Joel N HirschhornDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: joel.hirschhorn@childrens.harvard.edu.

Funding

Training Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8M
Cell Interactions in the Inflamed Intestinal MucosaR01DK075787 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI JOEL N HIRSCHHORN · 2007 to 2026
$13.1M
NHGRI NIH HHS T32 HG002295NIDDK NIH HHS R01 DK075787
6 · The paper itself

Abstract

Human height can be divided into sitting height and leg length. These measures reflect the growth of different parts of the skeleton whose relative proportions are captured by the ratio of sitting to total height (the sitting height ratio [SHR]). Height is a highly heritable trait, and its genetic basis has been well studied. However, the genetic determinants of skeletal proportion are much less well characterized. Expanding substantially on past work, we performed a genome-wide association study (GWAS) of the SHR in ∼450,000 individuals with European ancestry and ∼100,000 individuals with East Asian ancestry from the UK and China Kadoorie Biobanks, respectively. We identified 565 loci independently associated with the SHR, including all genomic regions implicated in prior GWASs in these ancestries. While SHR loci significantly overlap height-associated loci (p < 0.001), the fine-mapped SHR signals are often distinct from height signals. We also used fine-mapped signals to identify 36 credible sets with heterogeneous effects across ancestries. Lastly, we used the SHR, sitting height, and leg length to identify genetic variation acting on specific body regions rather than on overall human height.

Indexed as

Body HeightEast Asian PeopleEuropean PeopleWhite PeopleChinaFemaleGenome-Wide Association StudyHumansPolymorphism, Single NucleotideQuantitative Trait Locibody proportionfine-mappinggene prioritizationgene set enrichment analysisgenome-wide association studygrowthGWASheightsitting height ratiotrans-ancestry

Identifiers

PMID41861830
PMCPMC13087470

What OpenQuestion holds

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Registered trials

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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.