Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics.

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Fältnamn	Indikatorer	Metadata
000		07027naa a2201333 4500
001		oai:gup.ub.gu.se/264060
003		SwePub
008		240528s2018 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://gup.ub.gu.se/publication/2640602 URI
024	7	a https://doi.org/10.1093/hmg/ddx4292 DOI
040		a (SwePub)gu
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Beaumont, Robin N4 aut
245	1 0	a Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics.
264		c 2018-01-03
264	1	b Oxford University Press (OUP),c 2018
520		a Genome-wide association studies (GWAS) of birth weight have focused on fetal genetics, while relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86,577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother-child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P<5x10-8. In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reproduktionsmedicin och gynekologi0 (SwePub)302202 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Obstetrics, Gynaecology and Reproductive Medicine0 (SwePub)302202 hsv//eng
700	1	a Warrington, Nicole M4 aut
700	1	a Cavadino, Alana4 aut
700	1	a Tyrrell, Jessica4 aut
700	1	a Nodzenski, Michael4 aut
700	1	a Horikoshi, Momoko4 aut
700	1	a Geller, Frank4 aut
700	1	a Myhre, Ronny4 aut
700	1	a Richmond, Rebecca C4 aut
700	1	a Paternoster, Lavinia4 aut
700	1	a Bradfield, Jonathan P4 aut
700	1	a Kreiner-Møller, Eskil4 aut
700	1	a Huikari, Ville4 aut
700	1	a Metrustry, Sarah4 aut
700	1	a Lunetta, Kathryn L4 aut
700	1	a Painter, Jodie N4 aut
700	1	a Hottenga, Jouke-Jan4 aut
700	1	a Allard, Catherine4 aut
700	1	a Barton, Sheila J4 aut
700	1	a Espinosa, Ana4 aut
700	1	a Marsh, Julie A4 aut
700	1	a Potter, Catherine4 aut
700	1	a Zhang, Ge4 aut
700	1	a Ang, Wei4 aut
700	1	a Berry, Diane J4 aut
700	1	a Bouchard, Luigi4 aut
700	1	a Das, Shikta4 aut
700	1	a Hakonarson, Hakon4 aut
700	1	a Heikkinen, Jani4 aut
700	1	a Helgeland, Øyvind4 aut
700	1	a Hocher, Berthold4 aut
700	1	a Hofman, Albert4 aut
700	1	a Inskip, Hazel M4 aut
700	1	a Jones, Samuel E4 aut
700	1	a Kogevinas, Manolis4 aut
700	1	a Lind, Penelope A4 aut
700	1	a Marullo, Letizia4 aut
700	1	a Medland, Sarah E4 aut
700	1	a Murray, Anna4 aut
700	1	a Murray, Jeffrey C4 aut
700	1	a Njølstad, Pål R4 aut
700	1	a Nohr, Ellen A4 aut
700	1	a Reichetzeder, Christoph4 aut
700	1	a Ring, Susan M4 aut
700	1	a Ruth, Katherine S4 aut
700	1	a Santa-Marina, Loreto4 aut
700	1	a Scholtens, Denise M4 aut
700	1	a Sebert, Sylvain4 aut
700	1	a Sengpiel, Verena,d 1977u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi,Institute of Clinical Sciences, Department of Obstetrics and Gynecology4 aut0 (Swepub:gu)xsenve
700	1	a Tuke, Marcus A4 aut
700	1	a Vaudel, Marc4 aut
700	1	a Weedon, Michael N4 aut
700	1	a Willemsen, Gonneke4 aut
700	1	a Wood, Andrew R4 aut
700	1	a Yaghootkar, Hanieh4 aut
700	1	a Muglia, Louis J4 aut
700	1	a Bartels, Meike4 aut
700	1	a Relton, Caroline L4 aut
700	1	a Pennell, Craig E4 aut
700	1	a Chatzi, Leda4 aut
700	1	a Estivill, Xavier4 aut
700	1	a Holloway, John W4 aut
700	1	a Boomsma, Dorret I4 aut
700	1	a Montgomery, Grant W4 aut
700	1	a Murabito, Joanne M4 aut
700	1	a Spector, Tim D4 aut
700	1	a Power, Christine4 aut
700	1	a Järvelin, Marjo-Ritta4 aut
700	1	a Bisgaard, Hans4 aut
700	1	a Grant, Struan Fa4 aut
700	1	a Sørensen, Thorkild Ia4 aut
700	1	a Jaddoe, Vincent W4 aut
700	1	a Jacobsson, Bo,d 1960u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi,Institute of Clinical Sciences, Department of Obstetrics and Gynecology4 aut0 (Swepub:gu)xjacbo
700	1	a Melbye, Mads4 aut
700	1	a McCarthy, Mark I4 aut
700	1	a Hattersley, Andrew T4 aut
700	1	a Hayes, M Geoffrey4 aut
700	1	a Frayling, Timothy M4 aut
700	1	a Hivert, Marie-France4 aut
700	1	a Felix, Janine F4 aut
700	1	a Hyppönen, Elina4 aut
700	1	a Lowe, William L4 aut
700	1	a Evans, David M4 aut
700	1	a Lawlor, Debbie A4 aut
700	1	a Feenstra, Bjarke4 aut
700	1	a Freathy, Rachel M4 aut
710	2	a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi4 org
773	0	t Human molecular geneticsd : Oxford University Press (OUP)g 27:4, s. 742-756q 27:4<742-756x 1460-2083x 1460-2083x 0964-6906
856	4	u https://academic.oup.com/hmg/article-pdf/27/4/742/24325853/ddx429.pdf
856	4 8	u https://gup.ub.gu.se/publication/264060
856	4 8	u https://doi.org/10.1093/hmg/ddx429

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Av författaren/redakt...: Beaumont, Robin ...; Warrington, Nico ...; Cavadino, Alana; Tyrrell, Jessica; Nodzenski, Micha ...; Horikoshi, Momok ...; visa fler...; Geller, Frank; Myhre, Ronny; Richmond, Rebecc ...; Paternoster, Lav ...; Bradfield, Jonat ...; Kreiner-Møller, ...; Huikari, Ville; Metrustry, Sarah; Lunetta, Kathryn ...; Painter, Jodie N; Hottenga, Jouke- ...; Allard, Catherin ...; Barton, Sheila J; Espinosa, Ana; Marsh, Julie A; Potter, Catherin ...; Zhang, Ge; Ang, Wei; Berry, Diane J; Bouchard, Luigi; Das, Shikta; Hakonarson, Hako ...; Heikkinen, Jani; Helgeland, Øyvin ...; Hocher, Berthold; Hofman, Albert; Inskip, Hazel M; Jones, Samuel E; Kogevinas, Manol ...; Lind, Penelope A; Marullo, Letizia; Medland, Sarah E; Murray, Anna; Murray, Jeffrey ...; Njølstad, Pål R; Nohr, Ellen A; Reichetzeder, Ch ...; Ring, Susan M; Ruth, Katherine ...; Santa-Marina, Lo ...; Scholtens, Denis ...; Sebert, Sylvain; Sengpiel, Verena ...; Tuke, Marcus A; Vaudel, Marc; Weedon, Michael ...; Willemsen, Gonne ...; Wood, Andrew R; Yaghootkar, Hani ...; Muglia, Louis J; Bartels, Meike; Relton, Caroline ...; Pennell, Craig E; Chatzi, Leda; Estivill, Xavier; Holloway, John W; Boomsma, Dorret ...; Montgomery, Gran ...; Murabito, Joanne ...; Spector, Tim D; Power, Christine; Järvelin, Marjo- ...; Bisgaard, Hans; Grant, Struan Fa; Sørensen, Thorki ...; Jaddoe, Vincent ...; Jacobsson, Bo, 1 ...; Melbye, Mads; McCarthy, Mark I; Hattersley, Andr ...; Hayes, M Geoffre ...; Frayling, Timoth ...; Hivert, Marie-Fr ...; Felix, Janine F; Hyppönen, Elina; Lowe, William L; Evans, David M; Lawlor, Debbie A; Feenstra, Bjarke; Freathy, Rachel ...; visa färre...

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