Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/88791
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dc.contributor.authorFreathy, R.en
dc.contributor.authorMook-Kanamori, D.en
dc.contributor.authorSovio, U.en
dc.contributor.authorProkopenko, I.en
dc.contributor.authorTimpson, N.en
dc.contributor.authorBerry, D.en
dc.contributor.authorWarrington, N.en
dc.contributor.authorWiden, E.en
dc.contributor.authorJan Hottenga, J.en
dc.contributor.authorKaakinen, M.en
dc.contributor.authorLange, L.en
dc.contributor.authorBradfield, J.en
dc.contributor.authorKerkhof, M.en
dc.contributor.authorMarsh, J.en
dc.contributor.authorMägi, R.en
dc.contributor.authorChen, C.-.M.en
dc.contributor.authorLyon, H.en
dc.contributor.authorKirin, M.en
dc.contributor.authorAdair, L.en
dc.contributor.authorAulchenko, Y.en
dc.contributor.authoret al.en
dc.date.issued2010en
dc.identifier.citationNature Genetics, 2010; 42(5):430-435en
dc.identifier.issn1061-4036en
dc.identifier.issn1546-1718en
dc.identifier.urihttp://hdl.handle.net/2440/88791-
dc.description.abstractTo identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 × 10−35) and rs9883204 in ADCY5 (P = 7 × 10−15) were robustly associated with birth weight. Correlated SNPs in ADCY5 were recently implicated in regulation of glucose levels and susceptibility to type 2 diabetes1, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes2, 3 has a genetic component, distinct from the proposed role of programming by maternal nutrition. Using data from both SNPs, we found that the 9% of Europeans carrying four birth weight–lowering alleles were, on average, 113 g (95% CI 89–137 g) lighter at birth than the 24% with zero or one alleles (Ptrend = 7 × 10−30). The impact on birth weight is similar to that of a mother smoking 4–5 cigarettes per day in the third trimester of pregnancy.en
dc.description.statementofresponsibilityRachel M Freathy ... The Genetic Investigation of ANthropometric Traits (GIANT) Consortium ... The Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) ...The Wellcome Trust Case Control Consortium (WTCCC) ... Lyle J Palmer ... et al. for the Early Growth Genetics (EGG) Consortium.en
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.rights© 2010 Nature America, Inc. All rights reserved.en
dc.subjectGenetic Investigation of ANthropometric Traits (GIANT) Consortium; Meta-Analyses of Glucose and Insulin-related traits Consortium; Wellcome Trust Case Control Consortium; Early Growth Genetics (EGG) Consortium; Humans; Diabetes Mellitus, Type 2; Genetic Predisposition to Disease; Birth Weight; Isoenzymes; Glucose; Cyclins; Cohort Studies; Pregnancy; Genotype; Alleles; Models, Genetic; Ethnic Groups; Female; Male; Adenylyl Cyclasesen
dc.titleVariants in ADCY5 and near CCNL1 are associated with fetal growth and birth weighten
dc.typeJournal articleen
dc.identifier.rmid0020136637en
dc.identifier.doi10.1038/ng.567en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/572613en
dc.identifier.pubid15518-
pubs.library.collectionTranslational Health Science publicationsen
pubs.library.teamDS01en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
Appears in Collections:Translational Health Science publications

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