MétaCan
Menu
Back to cohort
Record W2802443219 · doi:10.17615/kdg4-ws50

Common variants at 12q15 and 12q24 are associated with infant head circumference

2012· article· en· W2802443219 on OpenAlexfundno aff
H. Rob Taal, Beaté St Pourcain, Elisabeth Thiering, Shikta Das, Dennis O. Mook‐Kanamori, Nicole M. Warrington, Marika Kaakinen, Eskil Kreiner‐Møller, Jonathan P. Bradfield, Rachel M. Freathy, Frank Geller, Mònica Guxens, Diana L. Cousminer, Marjan Kerkhof, Nicholas J. Timpson, M. Arfan Ikram, Lawrence J. Beilin, Klaus Bønnelykke, Jessica L. Buxton, Pimphen Charoen, Bo Chawes, Johan Eriksson, David M. Evans, Albert Hofman, John P. Kemp, Cecilia E. Kim, Norman Klopp, Jari Lahti, Stephen J. Lye, George McMahon, Frank Mentch, Martina Müller‐Nurasyid, Paul F. O’Reilly, Inga Prokopenko, Fernando Rivadeneira, Eric A.P. Steegers, Jordi Sunyer, Carla M. T. Tiesler, Hanieh Yaghootkar, Monique M.B. Breteler, Stéphanie Debette, Myriam Fornage, Vilmundur Guðnason, Lenore J. Launer, Aad van der Lugt, Thomas H. Mosley, Sudha Seshadri, Albert V. Smith, Meike W. Vernooij, Alexandra I. F. Blakemore, Rosetta Chiavacci, Bjarke Feenstra, Julio Fernandez-Banet, Struan F.A. Grant, Anna‐Liisa Hartikainen, Albert J. van der Heijden, Carmen Íñiguez, Mark Lathrop, Wendy L. McArdle, Anne Mølgaard, John P. Newnham, Lyle J. Palmer, Aarno Palotie, A. Pouta, Susan M. Ring, Ulla Sovio, Marie Standl, André G. Uitterlinden, H‐Erich Wichmann, Nadja Hawwa Vissing, Charles DeCarli, Cornelia M. van Duijn, Mark I. McCarthy, Gerard H. Koppelman, Xavier Estivill, Andrew T. Hattersley, Mads Melbye, Hans Bisgaard, Craig E. Pennell, Elisabeth Widén, Håkon Håkonarson, George Davey Smith, Joachim Heinrich, Marjo‐Riitta Järvelin, Vincent W. V. Jaddoe, Linda S. Adair, Wei Tech Ang, Mustafa Atalay, Nienke E. Bergen, Kelly S. Benke, Diane Berry, Lachlan Coin, Oliver S. P. Davis, P.R. Elliott, Claudia Flexeder, Timothy M. Frayling, Romy Gaillard, Maria M. Groen‐Blokhuis, Liang-Kee Goh, Claire M. A. Haworth, Dexter Hadley, Johannes Hedebrand, Anke Hinney, Joel N. Hirschhorn, John W. Holloway, Claus Holst, Jouke‐Jan Hottenga, Momoko Horikoshi, Ville Huikari, Elina Hyppönen, Tuomas O. Kilpeläinen, М. П. Кирин, Matthew Kowgier, Leslie A. Lange, Debbie A. Lawlor, Terho Lehtimäki, Alex Lewin, Cecilia M. Lindgren, Virpi Lindi, Reedik Maggi, Julie Marsh, Christel M. Middeldorp, Iona Y. Millwood, Jeffrey C. Murray, Michel G. Nivard, Ellen A. Nøhr, Ιωάννα Ντάλλα, Emily Oken, Kalliope Panoutsopoulou, Jennifer Pararajasingham, Alina Rodriguez, Rany M. Salem, Sylvain Sebért, Niina Siitonen, David P. Strachan, Yik‐Ying Teo, Beatriz Valcárcel, Scott White, Gonneke Willemsen, Eleftheria Zeggini, Dorret I. Boomsma, Cyrus Cooper, Matthew W. Gillman, Berthold Hocher, Timo A. Lakka, Karen L. Mohlke, George Dedoussis, Ken K. Ong, Ewan R. Pearson, Thomas S. Price, Chris Power, Olli Raitakari, Seang‐Mei Saw, André Scherag, Olli Simell, Thorkild I. A. Sørensen, James F. Wilson, Reinhold Schmidt, Henri A. Vrooman, Sigurður Sigurðsson, Stefan Ropele, Laura H. Coker, W. T. Longstreth, Wiro J. Niessen, Anita L. DeStefano, Alexa Beiser, Alex Zijdenbos, Maksim Struchalin, Clifford R. Jack, Mike A. Nalls, Rhoda Au, Haukur Guðnason, Tamara B. Harris, William M. Meeks, Mark A. van Buchem, Diane Catellier, B. Gwen Windham, Philip A. Wolf, H. Schmidt

Bibliographic record

VenueCarolina Digital Repository (University of North Carolina at Chapel Hill) · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsnot available
FundersNational Heart, Lung, and Blood InstituteNational Institutes of HealthBiocenter, University of OuluOulun YliopistoUniversity of BristolErasmus Medisch CentrumInstituto de Salud Carlos IIIRaine Medical Research FoundationZonMwErasmus Universiteit RotterdamNational Institute for Health and Care ResearchBritish Heart FoundationNederlandse Organisatie voor Wetenschappelijk OnderzoekWellcome TrustMedical Research CouncilNierstichtingCanadian Institutes of Health ResearchFundació la Marató de TV3National Health and Medical Research CouncilChildren's Hospital of Philadelphia
KeywordsHead (geology)Head circumferenceMedicineDemographyBiologyBirth weightGeneticsPregnancySociology

Abstract

fetched live from OpenAlex

To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
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 head0.008
GPT teacher head0.173
Teacher spread0.165 · 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 designObservational
Domainnot available
GenreEmpirical

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

Citations0
Published2012
Admission routes1
Has abstractyes

Explore more

Same venueCarolina Digital Repository (University of North Carolina at Chapel Hill)Same topicGenomic variations and chromosomal abnormalitiesFrench-language works237,207