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Freathy, R.M.* ; Mook-Kanamori, D.O.* ; Sovio, U.* ; Prokopenko, I.* ; Timpson, N.J.* ; Berry, D.J.* ; Warrington, N.M.* ; Widen, E.* ; Hottenga, J.J.* ; Kaakinen, M.* ; Lange, L.A.* ; Bradfield, J.P.* ; Kerkhof, M.* ; Marsh, J.A.* ; Mägi, R.* ; Chen, C.M. ; Lyon, H.N.* ; Kirin, M.* ; Adair, L.S.* ; Aulchenko, Y.S.* ; Bennett, A.J.* ; Borja, J.B.* ; Bouatia-Naji, N.* ; Charoen, P.* ; Coin, L.J.M.* ; Cousminer, D.L.* ; de Geus, E.J.C.* ; Deloukas, P.* ; Elliott, P.* ; Evans, D.M.* ; Froguel, P.* ; Glaser, B.* ; Groves, C.J.* ; Hartikainen, A.L.* ; Hassanali, N.* ; Hirschhorn, J.N.* ; Hofman, A.* ; Holly, J.M.P.* ; Hyppönen, E.* ; Kanoni, S.* ; Knight, B.A.* ; Laitinen, J.* ; Lindgren, C.M.* ; McArdle, W.L.* ; O'Reilly, P.F.* ; Penell, C.E.* ; Postma, D.S.* ; Pouta, A.* ; Ramasamy, A.* ; Rayner, N.W.* ; Ring, S.M.* ; Rivadeneira, F.* ; Shields, B.M.* ; Strachan, D.P.* ; Surakka, I.* ; Taanila, A.* ; Tiesler, C.M. ; Uitterlinden, A.G.* ; van Duijn, C.M.* ; Wijga, A.H.* ; Willemsen, G.* ; Zhang, H.T.* ; Zhao, J.H.* ; Wilson, J.F.* ; Steegers, E.A.P.* ; Hattersley, A.T.* ; Eriksson, J.G.* ; Peltonen, L.* ; Mohlke, K.L.* ; Grant, S.F.A.* ; Hakonarson, H.* ; Koppelman, G.H.* ; Dedoussis, G.V.* ; Heinrich, J. ; Gillman, M.W.* ; Palmer, L.J.* ; Frayling, T.M.* ; Boomsma, D.I.* ; Smith, G.D.* ; Power, C.* ; Jaddoe, V.W.V.* ; Jarvelin, M.R.* ; McCarthy, M.I.*

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.

Nat. Genet. 42, 430-435 (2010)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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 x 10(-35)) and rs9883204 in ADCY5 (P = 7 x 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 diabetes, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes 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 (P(trend) = 7 x 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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide association; Type-2 diabetes risk; Gestational-age; Head Circumference; Adenylyl-cylase; Cohort; Gene; Metaanalysis; Expression; Isoforms
Reviewing status