Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/88791
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Type: Journal article
Title: Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight
Author: Freathy, R.
Mook-Kanamori, D.
Sovio, U.
Prokopenko, I.
Timpson, N.
Berry, D.
Warrington, N.
Widen, E.
Jan Hottenga, J.
Kaakinen, M.
Lange, L.
Bradfield, J.
Kerkhof, M.
Marsh, J.
Mägi, R.
Chen, C.-.M.
Lyon, H.
Kirin, M.
Adair, L.
Aulchenko, Y.
et al.
Citation: Nature Genetics, 2010; 42(5):430-435
Publisher: Nature Publishing Group
Issue Date: 2010
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Rachel 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.
Abstract: To 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.
Keywords: Genetic 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 Cyclases
Rights: © 2010 Nature America, Inc. All rights reserved.
RMID: 0020136637
DOI: 10.1038/ng.567
Grant ID: http://purl.org/au-research/grants/nhmrc/572613
Appears in Collections:Translational Health Science publications

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