Type 2 diabetes, obesity, growth & reproductive ageing genetics

BIRTH WEIGHT

Below you can find links to our publications on the genetics of birth weight and related work. Growth in utero is associated with common diseases in late adulthood due to a combination of genetic and environmental factors. Genetics can be used to dissect out which maternal environmental factors might be influencing the health of the child, an important area of research given the often confusing advice given to women about what they should and should not do in pregnancy. This work is led by Drs Rachel Freathy, Jess Tyrrell and Robin Beaumont

2017

Beaumont RN, Horikoshi M, McCarthy MI, Freathy RM.
How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?
Current Diabetes Reports. 2017 Mar 14

2016

Momoko Horikoshi, Robin N. Beaumont, Felix R. Day, Nicole M. Warrington, Marjolein N. Kooijman, Juan Fernandez-Tajes, Andrew P. Morris, Ken K. Ong, Janine F. Felix, Nicholas J. Timpson, John R. B. Perry, David M. Evans, Mark I. McCarthy & Rachel M. Freathy (+151 authors)
Genome-wide associations for birth weight and correlations with adult disease.
Nature 2016 Oct 13.

Tyrrell J, Richmond RC, Palmer TM, Feenstra B, Rangarajan J, Metrustry S, Cavadino A, Paternoster L, Armstrong LL, De Silva NM, Wood AR, Horikoshi M, Geller F, Myhre R, Bradfield JP, Kreiner-Møller E, Huikari V, Painter JN, Hottenga JJ, Allard C, Berry DJ, Bouchard L, Das S, Evans DM, Hakonarson H, Hayes
MG, Heikkinen J, Hofman A, Knight B, Lind PA, McCarthy MI, McMahon G, Medland SE, Melbye M, Morris AP, Nodzenski M, Reichetzeder C, Ring SM, Sebert S, Sengpiel V,
Sørensen TI, Willemsen G, de Geus EJ, Martin NG, Spector TD, Power C, Järvelin MR, Bisgaard H, Grant SF, Nohr EA, Jaddoe VW, Jacobsson B, Murray JC, Hocher B, Hattersley AT, Scholtens DM, Davey Smith G, Hivert MF, Felix JF, Hyppönen E, Lowe WL Jr, Frayling TM, Lawlor DA, Freathy RM; Early Growth Genetics (EGG) Consortium.

Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight.
JAMA. 2016 Mar 15;315(11):1129-1140. PubMed PMID: 26978208.

2013

Tyrrell JS, Yaghootkar H, Freathy RM, Hattersley AT, Frayling TM.
Parental diabetes and birthweight in 236 030 individuals in the UK Biobank Study.
Int J Epidemiol. 2013 Dec;42(6):1714-23. PMID: 24336895; PMCID: PMC3887570.

Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, Kaakinen M, Cousminer DL, Lehtimäki T, Kreiner-Møller E, Warrington NM, Bustamante M, Feenstra B, Berry DJ, Thiering E, Pfab T, Barton SJ, Shields BM, Kerkhof M, van Leeuwen EM, Fulford AJ, Kutalik Z, Zhao JH, den Hoed M, Mahajan A, Lindi V, Goh LK, Hottenga JJ, Wu Y, Raitakari OT, Harder MN, Meirhaeghe A, Ntalla I, Salem RM, Jameson KA, Zhou K, Monies DM, Lagou V, Kirin M, Heikkinen J, Adair LS, Alkuraya FS, Al-Odaib A, Amouyel P, Andersson EA, Bennett AJ, Blakemore AI, Buxton JL, Dallongeville J, Das S, de Geus EJ, Estivill X, Flexeder C, Froguel P, Geller F, Godfrey KM, Gottrand F, Groves CJ, Hansen T, Hirschhorn JN, Hofman A, Hollegaard MV, Hougaard DM, Hyppönen E, Inskip HM, Isaacs A, Jørgensen T, Kanaka-Gantenbein C, Kemp JP, Kiess W, Kilpeläinen TO, Klopp N, Knight BA, Kuzawa CW, McMahon G, Newnham JP, Niinikoski H, Oostra BA, Pedersen L, Postma DS, Ring SM, Rivadeneira F, Robertson NR, Sebert S, Simell O, Slowinski T, Tiesler CM, Tönjes A, Vaag A, Viikari JS, Vink JM, Vissing NH, Wareham NJ, Willemsen G, Witte DR, Zhang H, Zhao J; Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC), Wilson JF, Stumvoll M, Prentice AM, Meyer BF, Pearson ER, Boreham CA, Cooper C, Gillman MW, Dedoussis GV, Moreno LA, Pedersen O, Saarinen M, Mohlke KL, Boomsma DI, Saw SM, Lakka TA, Körner A, Loos RJ, Ong KK, Vollenweider P, van Duijn CM, Koppelman GH, Hattersley AT, Holloway JW, Hocher B, Heinrich J, Power C, Melbye M, Guxens M, Pennell CE, Bønnelykke K, Bisgaard H, Eriksson JG, Widén E, Hakonarson H, Uitterlinden AG, Pouta A, Lawlor DA, Smith GD, Frayling TM, McCarthy MI, Grant SF, Jaddoe VW, Jarvelin MR, Timpson NJ, Prokopenko I, Freathy RM; Early Growth Genetics (EGG) Consortium.
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
Nat Genet.2013 Jan;45(1):76-82. PMC3605762.

2010

Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, Lange LA, Bradfield JP, Kerkhof M, Marsh JA, Mägi R, Chen CM, Lyon HN, Kirin M, Adair LS, Aulchenko YS, Bennett AJ, Borja JB, Bouatia-Naji N, Charoen P, Coin LJ, Cousminer DL, de Geus EJ, Deloukas P, Elliott P, Evans DM, Froguel P; Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Glaser B, Groves CJ, Hartikainen AL, Hassanali N, Hirschhorn JN, Hofman A, Holly JM, Hyppönen E, Kanoni S, Knight BA, Laitinen J, Lindgren CM; Meta-Analyses of Glucose and Insulin-related traits Consortium, McArdle WL, O’Reilly PF, Pennell CE, Postma DS, Pouta A, Ramasamy A, Rayner NW, Ring SM, Rivadeneira F, Shields BM, Strachan DP, Surakka I, Taanila A, Tiesler C, Uitterlinden AG, van Duijn CM; Wellcome Trust Case Control Consortium, Wijga AH, Willemsen G, Zhang H, Zhao J, Wilson JF, Steegers EA, Hattersley AT, Eriksson JG, Peltonen L, Mohlke KL, Grant SF, Hakonarson H, Koppelman GH, Dedoussis GV, Heinrich J, Gillman MW, Palmer LJ, Frayling TM, Boomsma DI, Davey Smith G, Power C, Jaddoe VW, Jarvelin MR; Early Growth Genetics (EGG) Consortium, McCarthy MI.
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.
Nat Genet. 2010 May;42(5):430-5. PMCID: PMC2862164.

2009

Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B. Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy.
J Clin Endocrinol Metab. 2009 Nov;94(11):4608-12. PMID: 19820008.

Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT.
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.
Hum Mol Genet. 2009 May 9.

Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, Perry JR, Pouta A, Ruokonen A, Hyppönen E, Power C, Elliott P, Strachan DP, Järvelin MR, Smith GD, McCarthy MI, Frayling TM, Hattersley AT.
Type 2 diabetes risk alleles are associated with reduced size at birth.
Diabetes. 2009 Jun;58(6):1428-33. Epub 2009 Feb 19.

2007

Freathy RM, Weedon MN, Bennett A, Hyppönen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, Pembrey ME, Ben-Shlomo Y, Strachan DP, Power C, Jarvelin M-R, McCarthy MI, Davey Smith G, Hattersley AT and Frayling TM.
Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals
American Journal of Human Genetics. March 2007.

The best from pre-history

Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, Voss LD, Jeffery AN, Metcalf B, Ferrucci L, Corsi AM, Murray A, Melzer D, Knight B, Shields B, Smith GD, Hattersley AT, Di Rienzo A, Frayling TM.
A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses.
Am J Hum Genet. 2006 Dec;79(6):991-1001.

Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L,Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J,Byberg L, Mann V, Axelsson T, Syvanen AC, Leon D, Hattersley AT.
Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene.
Diabetes. 2005 Feb;54(2):576-81.