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Mining the human phenome using allelic scores that index biological intermediates.
Evans DM, Brion MJ, Paternoster L, Kemp JP, McMahon G, Munafò M, Whitfield JB, Medland SE, Montgomery GW; GIANT Consortium; CRP Consortium; TAG Consortium; Timpson NJ, St Pourcain B, Lawlor DA, Martin NG, Dehghan A, Hirschhorn J, Smith GD. Evans DM, et al. PLoS Genet. 2013 Oct;9(10):e1003919. doi: 10.1371/journal.pgen.1003919. Epub 2013 Oct 31. PLoS Genet. 2013. PMID: 24204319 Free PMC article.
Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight.
Tyrrell J, Huikari V, Christie JT, Cavadino A, Bakker R, Brion MJ, Geller F, Paternoster L, Myhre R, Potter C, Johnson PC, Ebrahim S, Feenstra B, Hartikainen AL, Hattersley AT, Hofman A, Kaakinen M, Lowe LP, Magnus P, McConnachie A, Melbye M, Ng JW, Nohr EA, Power C, Ring SM, Sebert SP, Sengpiel V, Taal HR, Watt GC, Sattar N, Relton CL, Jacobsson B, Frayling TM, Sørensen TI, Murray JC, Lawlor DA, Pennell CE, Jaddoe VW, Hypponen E, Lowe WL Jr, Jarvelin MR, Davey Smith G, Freathy RM; Early Growth Genetics (EGG) Consortium. Tyrrell J, et al. Hum Mol Genet. 2012 Dec 15;21(24):5344-58. doi: 10.1093/hmg/dds372. Epub 2012 Sep 5. Hum Mol Genet. 2012. PMID: 22956269 Free PMC article.
Genetic variation at the SLC23A1 locus is associated with circulating concentrations of L-ascorbic acid (vitamin C): evidence from 5 independent studies with >15,000 participants.
Timpson NJ, Forouhi NG, Brion MJ, Harbord RM, Cook DG, Johnson P, McConnachie A, Morris RW, Rodriguez S, Luan J, Ebrahim S, Padmanabhan S, Watt G, Bruckdorfer KR, Wareham NJ, Whincup PH, Chanock S, Sattar N, Lawlor DA, Davey Smith G. Timpson NJ, et al. Am J Clin Nutr. 2010 Aug;92(2):375-82. doi: 10.3945/ajcn.2010.29438. Epub 2010 Jun 2. Am J Clin Nutr. 2010. PMID: 20519558 Free PMC article.