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https://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 Female Male Adenylyl Cyclases Ethnicity |
Rights: | © 2010 Nature America, Inc. All rights reserved. |
DOI: | 10.1038/ng.567 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/572613 |
Published version: | http://dx.doi.org/10.1038/ng.567 |
Appears in Collections: | Aurora harvest 2 Translational Health Science publications |
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