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Page 1
Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.
Crawford AA, Bankier S, Altmaier E, Barnes CLK, Clark DW, Ermel R, Friedrich N, van der Harst P, Joshi PK, Karhunen V, Lahti J, Mahajan A, Mangino M, Nethander M, Neumann A, Pietzner M, Sukhavasi K, Wang CA, Bakker SJL, Bjorkegren JLM, Campbell H, Eriksson J, Gieger C, Hayward C, Jarvelin MR, McLachlan S, Morris AP, Ohlsson C, Pennell CE, Price J, Rudan I, Ruusalepp A, Spector T, Tiemeier H, Völzke H, Wilson JF, Michoel T, Timpson NJ, Smith GD, Walker BR; CORtisol NETwork (CORNET) consortium. Crawford AA, et al. Among authors: smith gd. J Hum Genet. 2021 Jun;66(6):625-636. doi: 10.1038/s10038-020-00895-6. Epub 2021 Jan 20. J Hum Genet. 2021. PMID: 33469137 Free PMC article.
A road map for efficient and reliable human genome epidemiology.
Ioannidis JP, Gwinn M, Little J, Higgins JP, Bernstein JL, Boffetta P, Bondy M, Bray MS, Brenchley PE, Buffler PA, Casas JP, Chokkalingam A, Danesh J, Smith GD, Dolan S, Duncan R, Gruis NA, Hartge P, Hashibe M, Hunter DJ, Jarvelin MR, Malmer B, Maraganore DM, Newton-Bishop JA, O'Brien TR, Petersen G, Riboli E, Salanti G, Seminara D, Smeeth L, Taioli E, Timpson N, Uitterlinden AG, Vineis P, Wareham N, Winn DM, Zimmern R, Khoury MJ; Human Genome Epidemiology Network and the Network of Investigator Networks. Ioannidis JP, et al. Among authors: smith gd. Nat Genet. 2006 Jan;38(1):3-5. doi: 10.1038/ng0106-3. Nat Genet. 2006. PMID: 16468121
Common variants near MC4R are associated with fat mass, weight and risk of obesity.
Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI; Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial; Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De S, Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM; KORA; Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Herrera B, Hinney A, Hunt SE, Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CN, Papadakis K, Potter S, Pouta A, Qi L; Nurses' Health Study; Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK; Diabetes Genetics Initiative; Syddall HE, Teichmann SA, Timpson NJ, Tobias JH, Uda M; SardiNIA Study; Vogel CI, Wallace C, Waterworth DM, Weedon MN; Wellcome Trust Case Control Consortium; Willer CJ; FUSION… See abstract for full author list ➔ Loos RJ, et al. Among authors: smith gd. Nat Genet. 2008 Jun;40(6):768-75. doi: 10.1038/ng.140. Epub 2008 May 4. Nat Genet. 2008. PMID: 18454148 Free PMC article.
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RM, Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JH, Jacobs LC, Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GD, Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM, Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D, Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB, Johnson T, Jousilahti P, Jovanovic Z, Khaw KT, Kraft P, Kuokkanen M, Kuusisto J, Laitinen J, Lakatta EG, Luan J, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstråle M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S, Stringham HM, Tung YC, Valle TT, Van Duijn CM, Vimaleswaran KS, Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM, Watkins N; Wellcome Trust … See abstract for full author list ➔ Willer CJ, et al. Among authors: smith gd. Nat Genet. 2009 Jan;41(1):25-34. doi: 10.1038/ng.287. Epub 2008 Dec 14. Nat Genet. 2009. PMID: 19079261 Free PMC article.
Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.
Timpson NJ, Tobias JH, Richards JB, Soranzo N, Duncan EL, Sims AM, Whittaker P, Kumanduri V, Zhai G, Glaser B, Eisman J, Jones G, Nicholson G, Prince R, Seeman E, Spector TD, Brown MA, Peltonen L, Smith GD, Deloukas P, Evans DM. Timpson NJ, et al. Among authors: smith gd. Hum Mol Genet. 2009 Apr 15;18(8):1510-7. doi: 10.1093/hmg/ddp052. Epub 2009 Jan 30. Hum Mol Genet. 2009. PMID: 19181680 Free PMC article.
A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy.
Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT. Freathy RM, et al. Among authors: smith gd. Hum Mol Genet. 2009 Aug 1;18(15):2922-7. doi: 10.1093/hmg/ddp216. Epub 2009 May 9. Hum Mol Genet. 2009. PMID: 19429911 Free PMC article.
Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD; ASCOT investigators; NORDIL investigators; BRIGHT Consortium. Talmud PJ, et al. Among authors: smith gd. Am J Hum Genet. 2009 Nov;85(5):628-42. doi: 10.1016/j.ajhg.2009.10.014. Am J Hum Genet. 2009. PMID: 19913121 Free PMC article.
Genome-wide association study identifies five loci associated with lung function.
Repapi E, Sayers I, Wain LV, Burton PR, Johnson T, Obeidat M, Zhao JH, Ramasamy A, Zhai G, Vitart V, Huffman JE, Igl W, Albrecht E, Deloukas P, Henderson J, Granell R, McArdle WL, Rudnicka AR; Wellcome Trust Case Control Consortium; Barroso I, Loos RJ, Wareham NJ, Mustelin L, Rantanen T, Surakka I, Imboden M, Wichmann HE, Grkovic I, Jankovic S, Zgaga L, Hartikainen AL, Peltonen L, Gyllensten U, Johansson A, Zaboli G, Campbell H, Wild SH, Wilson JF, Gläser S, Homuth G, Völzke H, Mangino M, Soranzo N, Spector TD, Polasek O, Rudan I, Wright AF, Heliövaara M, Ripatti S, Pouta A, Naluai AT, Olin AC, Torén K, Cooper MN, James AL, Palmer LJ, Hingorani AD, Wannamethee SG, Whincup PH, Smith GD, Ebrahim S, McKeever TM, Pavord ID, MacLeod AK, Morris AD, Porteous DJ, Cooper C, Dennison E, Shaheen S, Karrasch S, Schnabel E, Schulz H, Grallert H, Bouatia-Naji N, Delplanque J, Froguel P, Blakey JD; NSHD Respiratory Study Team; Britton JR, Morris RW, Holloway JW, Lawlor DA, Hui J, Nyberg F, Jarvelin MR, Jackson C, Kähönen M, Kaprio J, Probst-Hensch NM, Koch B, Hayward C, Evans DM, Elliott P, Strachan DP, Hall IP, Tobin MD. Repapi E, et al. Among authors: smith gd. Nat Genet. 2010 Jan;42(1):36-44. doi: 10.1038/ng.501. Epub 2009 Dec 13. Nat Genet. 2010. PMID: 20010834 Free PMC article.
European lactase persistence genotype shows evidence of association with increase in body mass index.
Kettunen J, Silander K, Saarela O, Amin N, Müller M, Timpson N, Surakka I, Ripatti S, Laitinen J, Hartikainen AL, Pouta A, Lahermo P, Anttila V, Männistö S, Jula A, Virtamo J, Salomaa V, Lehtimäki T, Raitakari O, Gieger C, Wichmann EH, Van Duijn CM, Smith GD, McCarthy MI, Järvelin MR, Perola M, Peltonen L. Kettunen J, et al. Among authors: smith gd. Hum Mol Genet. 2010 Mar 15;19(6):1129-36. doi: 10.1093/hmg/ddp561. Epub 2009 Dec 16. Hum Mol Genet. 2010. PMID: 20015952 Free PMC article.
1,810 results