Evidence map›Paper›PMID 39515300›Full record

ArticleAmerican journal of human genetics2024

An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns.

Milena Deal, Asha Kar, Seung Hyuk T Lee, Marcus Alvarez, Sandhya Rajkumar, Uma Thanigai Arasu, Dorota Kaminska, Ville Männistö, Sini Heinonen, Birgitta W van der Kolk and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
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

18 authors.

Milena DealDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Asha KarDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA; Bioinformatics Interdepartmental Program, UCLA, Los Angeles, CA, USA.
Seung Hyuk T LeeDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Marcus AlvarezDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Sandhya RajkumarDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Uma Thanigai ArasuA. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.
Dorota KaminskaInstitute of Public Health and Clinical Nutrition, University of Eastern Finland, Kuopio, Finland; Department of Medicine, Division of Cardiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Ville MännistöDepartment of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
Sini HeinonenObesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Birgitta W van der KolkObesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Ulla SäiläkiviDepartment of Abdominal Surgery, Abdominal Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Tuure SaarinenDepartment of Abdominal Surgery, Abdominal Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Anne JuutiDepartment of Abdominal Surgery, Abdominal Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Jussi PihlajamäkiInstitute of Public Health and Clinical Nutrition, University of Eastern Finland, Kuopio, Finland; Department of Medicine, Endocrinology and Clinical Nutrition, Kuopio University Hospital, Kuopio, Finland.
Minna U KaikkonenA. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.
Markku LaaksoDepartment of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
Kirsi H PietiläinenObesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; HealthyWeightHub, Endocrinology, Abdominal Center, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
Päivi PajukantaDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA; Bioinformatics Interdepartmental Program, UCLA, Los Angeles, CA, USA; Institute for Precision Health, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. Electronic address: ppajukanta@mednet.ucla.edu.

Funding

Multimodal omics approach to identify health to cardiometabolic disease transitionsR01HL170604 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Paivi Pajukanta · 2023 to 2026
$2.8M
Methods for Genomic Analysis in Heterogeneous TissuesR01HG010505 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI HALPERIN, ERAN · 2019 to 2022
$2.6M
Genetics of adipose cell-type expression and cardiometabolic traitsR01DK132775 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MOHLKE, KAREN L., PAJUKANTA, PAIVI · 2022 to 2025
$2.4M
NHGRI NIH HHS R01 HG010505NHLBI NIH HHS R01 HL170604NIDDK NIH HHS R01 DK132775
6 · The paper itself

Abstract

Mechanisms of abdominal obesity GWAS variants have remained largely unknown. To elucidate these mechanisms, we leveraged subcutaneous adipose tissue (SAT) single nucleus RNA-sequencing and genomics data. After discovering that heritability of abdominal obesity is enriched in adipocytes, we focused on a SAT unique adipocyte marker gene, the transcription factor TBX15, and its abdominal obesity-associated deleterious missense variant, rs10494217. The allele frequency of rs10494217 revealed a north-to-south decreasing gradient, with consistent significant F

Indexed as

AdipocytesCold TemperatureMutation, MissenseObesity, AbdominalT-Box Domain ProteinsThermogenesisAdaptation, PhysiologicalAnimalsFemaleFinlandGene FrequencyGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideSubcutaneous FatT-Box Domain ProteinsTBX15 protein, humanabdominal obesityadipocyte hypertrophypopulation geneticsSATselectionsingle nucleus RNA sequencingsubcutaneous adipose tissueT-box transcription factor 15TBX15thermogenesistrans regulationwaist-hip ratio adjusted for body mass indexWHRadjBMI

Identifiers

PMID39515300
PMCPMC11568758

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.