Evidence map›Paper›PMID 33616283›Full record

ArticleObesity (Silver Spring, Md.)2021

Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.

Samantha E Day, Yunhua L Muller, Cigdem Koroglu, Sayuko Kobes, Kim Wiedrich, Darin Mahkee, Hye In Kim, Cris Van Hout, Nehal Gosalia, Bin Ye and 6 more

Open access · hybridAbstract read
In one paragraph

Article in Obesity (Silver Spring, Md.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Whole-exome sequencing uncovers new variants in GDF15 associated with hyperemesis gravidarum.BJOG : an international journal of obstetrics and gynaecology · 2022
    Article
  6. 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 at 2 institutions in 1 country.

Samantha E DayPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.ORCID 0000-0002-9818-0972
Yunhua L MullerPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.ORCID 0000-0001-5007-2107
Cigdem KorogluPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.ORCID 0000-0002-6778-4773
Sayuko KobesPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.
Kim WiedrichPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.
Darin MahkeePhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.
Hye In KimRegeneron Genetics Center, Tarrytown, New York, USA.
Cris Van HoutRegeneron Genetics Center, Tarrytown, New York, USA.
Nehal GosaliaRegeneron Genetics Center, Tarrytown, New York, USA.
Bin YeRegeneron Genetics Center, Tarrytown, New York, USA.
Regeneron Genetics CenterRegeneron Genetics Center, Tarrytown, New York, USA.
Alan R ShuldinerRegeneron Genetics Center, Tarrytown, New York, USA.
William C KnowlerPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.
Robert L HansonPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.
Clifton BogardusPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.ORCID 0000-0003-1472-3376
Leslie J BaierPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA.
National Institutes of Health · USRegeneron (United States) · US

Funding

Whole Genome and Whole Exome Sequencing to Identify Genes for Type 2 Diabetes and ObesityZIADK075058 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI BAIER, LESLIE J · 2011 to 2025
$20.0M
Structural Analysis Of Candidate Genes For Type 2 Diabetes and ObesityZIADK069071 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI BAIER, LESLIE J · 2009 to 2025
$15.4M
Genetic Epidemiology of Diabetes and ObesityZIADK069028 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI HANSON, ROBERT · 2009 to 2025
$7.5M
Epidemiology of Type 2 Diabetes Mellitus in the Gila River Indian CommunityZIADK069000 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI KNOWLER, WILLIAM C · 2009 to 2021
$3.4M
6 · The paper itself

Abstract

objectiveIn an ongoing effort to identify the genetic variation that contributes to obesity in American Indians, known Bardet-Biedl syndrome (BBS) genes were analyzed for an effect on BMI and leptin signaling.

methodsPotentially deleterious variants (Combined Annotation Dependent Depletion score > 20) in BBS genes were identified in whole-exome sequence data from 6,851 American Indians informative for BMI. Common variants (detected in ≥ 10 individuals) were analyzed for association with BMI; rare variants (detected in < 10 individuals) were analyzed for mean BMI of carriers. Functional assessment of variants' effect on signal transducer and activator of transcription 3 (STAT3) activity was performed in vitro.

resultsOne common variant, rs59252892 (Thr549Ile) in BBS9, was associated with BMI (P = 0.0008, β = 25% increase per risk allele). Among rare variants for which carriers had severe obesity (mean BMI > 40 kg/m

conclusionsPotentially functional variants in BBS genes in American Indians are reported. However, functional evidence supporting a causal role for BBS9 in obesity is inconclusive.

Indexed as

American Indian or Alaska NativeBardet-Biedl SyndromeExomeFemaleHumansMaleObesity

Identifiers

PMID33616283
PMCPMC8048836
OpenAlexW3132562914

What Socratic holds

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LicenceCC BY-NC-ND
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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 Socratic graph.