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Record W2103336510 · doi:10.1371/journal.pgen.1000694

Meta-Analysis of the INSIG2 Association with Obesity Including 74,345 Individuals: Does Heterogeneity of Estimates Relate to Study Design?

2009· review· en· W2103336510 on OpenAlexaff
Iris M. Heid, Cornelia Huth, Ruth J. F. Loos, Florian Kronenberg, Věra Adámková, Sonia S. Anand, Kristin Ardlie, Heike Biebermann, Peter Bjerregaard, Heiner Boeing, Claude Bouchard, Marina Ciullo, Jackie A. Cooper, Dolores Corella, Christian Dina, James C. Engert, Eva Fisher, Francesc Francès, Philippe Froguel, Johannes Hebebrand, Robert A. Hegele, Anke Hinney, Margret R. Hoehe, Frank B. Hu, Jaroslav A. Hubáček, Steve E. Humphries, Steven C. Hunt, Thomas Illig, Marjo‐Riitta Järvelin, Marika Kaakinen, Barbara Kollerits, Heiko Krude, Jitender Kumar, Leslie A. Lange, Birgit Langer, Shengxu Li, Andreas Luchner, Helen N. Lyon, Stephen Eyre, Karen L. Mohlke, Vincent Mooser, Almut Nebel, Thuy Trang Nguyen, Bernhard Paulweber, Louis Përusse, Lu Qi, Tuomo Rankinen, Dieter Rosskopf, Stefan Schreiber, Shantanu Sengupta, Rossella Sorice, Anita Suk, Guðmar Þorleifsson, Unnur Þorsteinsdóttir, Henry Völzke, Karani S. Vimaleswaran, Nicholas J. Wareham, Dawn Waterworth, Salim Yusuf, Cecilia M. Lindgren, Mark I. McCarthy, Christoph Lange, Joel N. Hirschhorn, Nan M. Laird, H.‐Erich Wichmann

Bibliographic record

VenuePLoS Genetics · 2009
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité LavalWestern UniversityMcGill UniversityMcMaster University
FundersNational Center for Research ResourcesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteComisión de Investigaciones CientíficasMedical Research CouncilNational Institutes of HealthSundhed og Sygdom, Det Frie ForskningsrådExzellenzclusters EntzündungsforschungBritish Heart FoundationMinistero dell’Istruzione, dell’Università e della RicercaBundesministerium für Bildung und ForschungDeutsche ForschungsgemeinschaftBiocenter, University of OuluEuropean CommissionOulun YliopistoAcademy of Finland
KeywordsObesityMeta-analysisOdds ratioBody mass indexPopulationDemographyBiologyGenome-wide association studyGenetic associationGenotypeInternal medicineMedicineGeneticsEndocrinologySingle-nucleotide polymorphism

Abstract

fetched live from OpenAlex

The INSIG2 rs7566605 polymorphism was identified for obesity (BMI> or =30 kg/m(2)) in one of the first genome-wide association studies, but replications were inconsistent. We collected statistics from 34 studies (n = 74,345), including general population (GP) studies, population-based studies with subjects selected for conditions related to a better health status ('healthy population', HP), and obesity studies (OB). We tested five hypotheses to explore potential sources of heterogeneity. The meta-analysis of 27 studies on Caucasian adults (n = 66,213) combining the different study designs did not support overall association of the CC-genotype with obesity, yielding an odds ratio (OR) of 1.05 (p-value = 0.27). The I(2) measure of 41% (p-value = 0.015) indicated between-study heterogeneity. Restricting to GP studies resulted in a declined I(2) measure of 11% (p-value = 0.33) and an OR of 1.10 (p-value = 0.015). Regarding the five hypotheses, our data showed (a) some difference between GP and HP studies (p-value = 0.012) and (b) an association in extreme comparisons (BMI> or =32.5, 35.0, 37.5, 40.0 kg/m(2) versus BMI<25 kg/m(2)) yielding ORs of 1.16, 1.18, 1.22, or 1.27 (p-values 0.001 to 0.003), which was also underscored by significantly increased CC-genotype frequencies across BMI categories (10.4% to 12.5%, p-value for trend = 0.0002). We did not find evidence for differential ORs (c) among studies with higher than average obesity prevalence compared to lower, (d) among studies with BMI assessment after the year 2000 compared to those before, or (e) among studies from older populations compared to younger. Analysis of non-Caucasian adults (n = 4889) or children (n = 3243) yielded ORs of 1.01 (p-value = 0.94) or 1.15 (p-value = 0.22), respectively. There was no evidence for overall association of the rs7566605 polymorphism with obesity. Our data suggested an association with extreme degrees of obesity, and consequently heterogeneous effects from different study designs may mask an underlying association when unaccounted for. The importance of study design might be under-recognized in gene discovery and association replication so far.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: Meta-analysis
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.221
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0030.001
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.169
GPT teacher head0.365
Teacher spread0.196 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designMeta-analysis
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations76
Published2009
Admission routes1
Has abstractyes

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