DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Birth weight. The EFO term birth weight was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: birth weight

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

RM Freathy, DO Mook-Kanamori, U Sovio, I Prokopenko, NJ Timpson, DJ Berry, NM Warrington, E Widen, JJ Hottenga, M Kaakinen, LA Lange, JP Bradfield, M Kerkhof, JA Marsh, R Mägi, CM Chen, HN Lyon, M Kirin, LS Adair, YS Aulchenko, AJ Bennett, JB Borja, N Bouatia-Naji, P Charoen, LJ Coin, DL Cousminer, EJ de Geus, P Deloukas, P Elliott, DM Evans, P Froguel, B Glaser, CJ Groves, AL Hartikainen, N Hassanali, JN Hirschhorn, A Hofman, JM Holly, E Hyppönen, S Kanoni, BA Knight, J Laitinen, CM Lindgren, WL McArdle, PF O'Reilly, CE Pennell, DS Postma, A Pouta, A Ramasamy, NW Rayner, SM Ring, F Rivadeneira, BM Shields, DP Strachan, I Surakka, A Taanila, C Tiesler, AG Uitterlinden, CM van Duijn, AH Wijga, G Willemsen, H Zhang, J Zhao, JF Wilson, EA Steegers, AT Hattersley, JG Eriksson, L Peltonen, KL Mohlke, SF Grant, H Hakonarson, GH Koppelman, GV Dedoussis, J Heinrich, MW Gillman, LJ Palmer, TM Frayling, DI Boomsma, G Davey Smith, C Power, VW Jaddoe, MR Jarvelin, MI McCarthy

TITLE:

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

JOURNAL:

Nature genetics May 2010, Vol 42, pp. 430-5

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 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. PUBMED: 20372150
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