Evidence map›Paper›PMID 22531089›Full record

ArticleInternational journal of obesity (2005)2013

Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children.

M Sällman Almén, M Rask-Andersen, J A Jacobsson, A Ameur, I Kalnina, G Moschonis, S Juhlin, N Bringeland, L A Hedberg, V Ignatovica and 7 more

Abstract readComparative Study
In one paragraph

Article in International journal of obesity (2005), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
–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

21 citing papers in PubMed, 1 synthesis or guideline pooled it.

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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

17 authors.

M Sällman AlménDepartment of Neuroscience, Functional Pharmacology, Uppsala University, BMC, Uppsala, Sweden.
M Rask-Andersen
J A Jacobsson
A Ameur
I Kalnina
G Moschonis
S Juhlin
N Bringeland
L A Hedberg
V Ignatovica
G P Chrousos
Y Manios
J Klovins
C Marcus
U Gyllensten
R Fredriksson
H B Schiöth

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe Fat mass and obesity-associated gene (FTO) was the first gene reliably associated with body mass index in genome-wide association studies on a population level. At present, the genetic variations within the FTO gene are still the common variants that have the largest influence on body mass index.

methodsIn the current study, we amplified the entire FTO gene, in total 412 Kbp, in over 200 long-range PCR fragments from each individual, from 524 severely obese and 527 lean Swedish children, and sequenced the products as two DNA pools using massive parallel sequencing (SOLiD).

resultsThe sequencing achieved very high coverage (median 18 000 reads) and we detected and estimated allele frequencies for 705 single nucleotide polymorphisms (SNPs) (19 novel) and 40 indels (24 novel) using a sophisticated statistical approach to remove false-positive SNPs. We identified 19 obesity-associated SNPs within intron one of the FTO gene, and validated our findings with genotyping. Ten of the validated obesity-associated SNPs have a stronger obesity association (P<0.007) than the commonly studied rs9939609 SNP (P<0.012).

conclusionsThis study provides a comprehensive obesity-associated variation map of FTO, identifies novel lead SNPs and evaluates putative causative variants. We conclude that intron one is the only region within the FTO gene associated with obesity, and finally, we establish next generation sequencing of pooled DNA as a powerful method to investigate genetic association with complex diseases and traits.

Indexed as

Polymorphism, Single NucleotideAdolescentAlpha-Ketoglutarate-Dependent Dioxygenase FTOBody CompositionBody Mass IndexChildFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHigh-Throughput Nucleotide SequencingHumansMaleObesityProteinsSequence Analysis, DNAAlpha-Ketoglutarate-Dependent Dioxygenase FTOFTO protein, humanProteins

Identifiers

PMID22531089
PMCPMC3595467

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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.