{"id":75,"date":"2025-06-23T12:34:31","date_gmt":"2025-06-23T12:34:31","guid":{"rendered":"https:\/\/sites.exeter.ac.uk\/fetalgenomics\/?page_id=75"},"modified":"2026-04-27T12:17:22","modified_gmt":"2026-04-27T12:17:22","slug":"publications","status":"publish","type":"page","link":"https:\/\/sites.exeter.ac.uk\/fetalgenomics\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"\n

Key publications from our Pregnancy and Fetal Growth Genomics Group:<\/p>\n\n\n\n

\n

2026<\/strong><\/p>\n\n\n\n

Beaumont, R. N., Kotecha, S. J., Simpson, S. J., Kotecha, S., Freathy R. M.\u00a0(2026). Genetic score associations with birthweight in preterm-born infants compared with term-born infants.<\/em>\u00a0Sci Rep.<\/em> https:\/\/doi.org\/10.1038\/s41598-026-45823-4<\/a><\/p>\n\n\n\n

Decina, C. S., Warrington, N. M., Beaumont, R. N., Bian, B., Brito Nunes, C., et al. (2026). Examining the association between fetal HLA-C, maternal KIR haplotypes and birth weight.<\/em> PLOS Genetics<\/em> 22(4): e1012102. https:\/\/doi.org\/10.1371\/journal.pgen.1012102<\/a><\/p>\n\n\n\n

Nakanga, W. P., Sekitoleko, I., Andrews, R. C., Hughes A. E., Salome, T., Freathy R. M. et al (2026). The contribution of maternal glucose to birth weight is smaller in Uganda (sub-Saharan Africa) than in Afro-Caribbean or white ethnicity mother-child pairs from<\/em> outside Africa. <\/strong>BMJ Global Health 2026;11:e019569. <\/em>https:\/\/doi.org\/10.1136\/bmjgh-2025-019569<\/a><\/p>\n\n\n\n

<\/p>\n\n\n\n

2025<\/strong><\/p>\n\n\n\n

Jaitner, A., Beaumont, R. N., Hughes, A. E., Tsaneva-Atanasova, K., Bowden, J., Freathy, R. M (2025). Placental growth plays a key role in the link between maternal glucose levels in pregnancy and risk of preeclampsia<\/em>. <\/strong>medRxiv. https:\/\/doi.org\/10.1101\/2025.10.23.25338694<\/a> <\/p>\n\n\n\n

Brito Nunes, C., Rukins, V., Ciss\u00e9, A. H., White, F., McBride, N., Kuang, A. et al (2025). Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects. <\/em>medRxiv. https:\/\/doi.org\/10.1101\/2025.08.19.25333735<\/a><\/p>\n\n\n\n

Ciss\u00e9, A. H., Kuang, A., Allard, C., Ronkainen, J., Beaumont, R. N., Sebert, et al. (2025). Examining the impact of gestational diabetes genetic susceptibility variants on maternal glucose levels during and post pregnancy. BMJ Open Diab Res Care 2025;13:e005382. https:\/\/drc.bmj.com\/content\/13\/6\/e005382<\/a><\/p>\n\n\n\n

Decina, C. S., Beaumont, R. N., Juodakis, J., Warrington, N. M., Patel, K. A., Nj\u00f8lstad, P. R., Johansson, S., Hattersley, A. T., Jacobsson, B., Lowe, W. L., Evans, D. M., & Freathy, R. M. (2025). The influence of fetal sex on maternal blood pressure in pregnancy. BMC Medicine<\/em>, 23(612). https:\/\/doi.org\/10.1186\/s12916-025-04432-0<\/a><\/p>\n\n\n\n

Kentistou, K. A., Lim, B. E. M., Kaisinger, L. R., Steinthorsdottir, V., Sharp, L. N., Patel, K. A., Tragante, V., Hawkes, G., Gardner, E. J., Olafsdottir, T., Wood, A. R., Zhao, Y., Thorleifsson, G., Day, F. R., Ozanne, S. E., Hattersley, A. T., O\u2019Rahilly, S., Stefansson, K., Ong, K. K., \u2026 Freathy, R. M. (2025). Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling. Nature Communications<\/em>, 16<\/em>(1), 648. https:\/\/doi.org\/10.1038\/s41467-024-55761-2<\/a><\/p>\n\n\n\n

Jaitner, A., Tsaneva-Atanasova, K., Freathy, R. M., & Bowden, J. (2025). Exploring and Accounting for Genetically Driven Effect Heterogeneity in Mendelian Randomization. Genetic Epidemiology<\/em>, 49<\/em>(1), e22587. https:\/\/doi.org\/10.1002\/gepi.22587<\/a><\/p>\n\n\n\n

<\/p>\n<\/div><\/div>\n\n\n\n

\n

2024<\/strong><\/p>\n\n\n\n

Borges, M. C., Clayton, G. L., Freathy, R. M., Felix, J. F., Fern\u00e1ndez-Sanl\u00e9s, A., Soares, A. G., Kilpi, F., Yang, Q., McEachan, R. R. C., Richmond, R. C., Liu, X., Skotte, L., Irizar, A., Hattersley, A. T., Bodinier, B., Scholtens, D. M., Nohr, E. A., Bond, T. A., Hayes, M. G., West, J., \u2026 Lawlor, D. A. (2024). Integrating multiple lines of evidence to assess the effects of maternal BMI on pregnancy and perinatal outcomes. BMC medicine<\/em>, 22<\/em>(1), 32. https:\/\/doi.org\/10.1186\/s12916-023-03167-0<\/a><\/p>\n\n\n\n

Ciss\u00e9, A. H., & Freathy, R. M. (2024). New insights into the genetics of diabetes in pregnancy. Nature Genetics<\/em>, 56<\/em>(3), 358\u2013359. https:\/\/doi.org\/10.1038\/s41588-024-01675-0<\/a><\/p>\n\n\n\n

Jaitner, A., Vaudel, M., Tsaneva-Atanasova, K., Nj\u00f8lstad, P.R., Jacobsson, B., Bowden, J., Johansson, S., Freathy, R.M. (2024). Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study. BMC Pregnancy Childbirth<\/em>. 24(1), 238. https:\/\/doi.org\/10.1186\/s12884-024-06431-0<\/a><\/p>\n\n\n\n

Nakanga, W. P., Sekitoleko, I., Andrews, R. C., Hughes, A. E., Salome, T., Freathy, R. M., Shields, B., Lowe, J., Jones, A. G., Hattersley, A., & Nyrenda, M. (2024). The Contribution of Maternal Glucose to Birth Weight is Smaller in Uganda (Sub-Saharan Africa) than in Afro-Caribbean or White Ethnicity Mother-Child Pairs from Outside Africa<\/em> (SSRN Scholarly Paper 5040689). https:\/\/doi.org\/10.2139\/ssrn.5040689<\/a><\/p>\n\n\n\n

Brito Nunes, C., Borges, M. C., Freathy, R. M., Lawlor, D. A., Qvigstad, E., Evans, D. M., & Moen, G.-H. (2024). Understanding the Genetic Landscape of Gestational Diabetes: Insights into the Causes and Consequences of Elevated Glucose Levels in Pregnancy. Metabolites<\/em>, 14<\/em>(9), Article 9. https:\/\/doi.org\/10.3390\/metabo14090508<\/a><\/p>\n\n\n\n

D\u2019Urso, S., Moen, G.-H., Hwang, L.-D., Hannigan, L. J., Corfield, E. C., Ask, H., Johannson, S., Nj\u00f8lstad, P. R., Beaumont, R. N., Freathy, R. M., Evans, D. M., & Havdahl, A. (2024). Intrauterine Growth and Offspring Neurodevelopmental Traits: A Mendelian Randomization Analysis of the Norwegian Mother, Father and Child Cohort Study (MoBa). JAMA Psychiatry<\/em>, 81<\/em>(2), 144\u2013156. https:\/\/doi.org\/10.1001\/jamapsychiatry.2023.3872<\/a><\/p>\n\n\n\n

Thompson, W., Reynolds, R., Beaumont, R., Warrington, N., Tyrrell, J., Wood, A., Evans, D., McDonald, T., Hattersley, A., Freathy, R., Lawlor, D., & Borges, M. (2024). Maternal plasma cortisol\u2019s effect on offspring birth weight: A Mendelian Randomisation study. BMC Pregnancy and Childbirth<\/em>, 24<\/em>(1), 65. https:\/\/doi.org\/10.1186\/s12884-024-06250-3<\/a><\/p>\n\n\n\n

Hughes, A. E., & Freathy, R. M. (2024). Nausea and vomiting in pregnancy linked to hormone from fetus. Nature<\/em>, 625<\/em>(7996), 670\u2013671. https:\/\/doi.org\/10.1038\/d41586-023-03940-4<\/a><\/p>\n\n\n\n

<\/p>\n<\/div><\/div>\n\n\n\n

\n

2023<\/strong><\/p>\n\n\n\n

Hughes, A. E., De Franco, E., Freathy, R. M., Fetal Insulin and Growth Consortium, Flanagan, S. E., & Hattersley, A. T. (2023). Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth. The Journal of Clinical Investigation<\/em>, 133<\/em>(6), e165402. https:\/\/doi.org\/10.1172\/JCI165402<\/a><\/p>\n\n\n\n

Zhao, J., Stewart, I. D., Baird, D., Mason, D., Wright, J., Zheng, J., Gaunt, T. R., Evans, D. M., Freathy, R. M., Langenberg, C., Warrington, N. M., Lawlor, D. A., Borges, M. C., & MR-PREG Consortium (2023). Causal effects of maternal circulating amino acids on offspring birthweight: a Mendelian randomisation study. EBioMedicine<\/em>, 88<\/em>, 104441. https:\/\/doi.org\/10.1016\/j.ebiom.2023.104441<\/a><\/p>\n\n\n\n

Nj\u00f8lstad, P. R., Feenstra, B., & Freathy, R. M. (2023). Regulation of placental growth is a complex interplay of maternal and fetal genomes. Nat Genet<\/em>, 55, 1786\u20131787. https:\/\/doi.org\/10.1038\/s41588-023-01519-3<\/a><\/p>\n\n\n\n

Beaumont, R. N., Flatley, C., Vaudel, M., Wu, X., Chen, J., Moen, G. H., Skotte, L., Helgeland, \u00d8., Sol\u00e9-Navais, P., Banasik, K., Albi\u00f1ana, C., Ronkainen, J., Fadista, J., Stinson, S. E., Trajanoska, K., Wang, C. A., Westergaard, D., Srinivasan, S., S\u00e1nchez-Soriano, C., Bilbao, J. R., \u2026 Nj\u00f8lstad, P. R. (2023). Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. Nature Genetics<\/em>, 55<\/em>(11), 1807\u20131819. https:\/\/doi.org\/10.1038\/s41588-023-01520-w<\/a><\/p>\n\n\n\n

Sol\u00e9-Navais, P., Flatley, C., Steinthorsdottir, V., Vaudel, M., Juodakis, J., Chen, J., Laisk, T., LaBella, A. L., Westergaard, D., Bacelis, J., Brumpton, B., Skotte, L., Borges, M. C., Helgeland, \u00d8., Mahajan, A., Wielscher, M., Lin, F., Briggs, C., Wang, C. A., \u2026 Jacobsson, B. (2023). Genetic effects on the timing of parturition and links to fetal birth weight. Nature Genetics<\/em>, 55<\/em>(4), 559\u2013567. https:\/\/doi.org\/10.1038\/s41588-023-01343-9<\/a><\/p>\n\n\n\n

Decina, C. S., Hopkins, R., Bowden, J., Shields, B. M., Lawlor, D. A., Warrington, N. M., Evans, D. M., Freathy, R. M., & Beaumont, R. N. (2023). Investigating a possible causal relationship between maternal serum urate concentrations and offspring birthweight: A Mendelian randomization study. International Journal of Epidemiology<\/em>, 52<\/em>(1), 178\u2013189. https:\/\/doi.org\/10.1093\/ije\/dyac186<\/a><\/p>\n\n\n\n

<\/p>\n<\/div><\/div>\n\n\n\n

\n

2022<\/strong><\/p>\n\n\n\n

Pervjakova, N., Moen, G. H., Borges, M. C., Ferreira, T., Cook, J. P., Allard, C., Beaumont, R. N., Canouil, M., Hatem, G., Heiskala, A., Joensuu, A., Karhunen, V., Kwak, S. H., Lin, F. T. J., Liu, J., Rifas-Shiman, S., Tam, C. H., Tam, W. H., Thorleifsson, G., Andrew, T., \u2026 M\u00e4gi, R. (2022). Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. Human molecular genetics<\/em>, 31<\/em>(19), 3377\u20133391. https:\/\/doi.org\/10.1093\/hmg\/ddac050<\/a><\/p>\n\n\n\n

Haulder, M., Hughes, A. E., Beaumont, R. N., Knight, B. A., Hattersley, A. T., Shields, B. M., & Freathy, R. M. (2022). Assessing whether genetic scores explain extra variation in birthweight, when added to clinical and anthropometric measures. BMC Pediatrics<\/em>, 22<\/em>(1), 504. https:\/\/doi.org\/10.1186\/s12887-022-03554-1<\/a><\/p>\n\n\n\n

Nongmaithem, S. S., Beaumont, R. N., Dedaniya, A., Wood, A. R., Ogunkolade, B.-W., Hassan, Z., Krishnaveni, G. V., Kumaran, K., Potdar, R. D., Sahariah, S. A., Krishna, M., Di Gravio, C., Mali, I. D., Sankareswaran, A., Hussain, A., Bhowmik, B. W., Khan, A. K. A., Knight, B. A., Frayling, T. M., \u2026 Chandak, G. R. (2022). Babies of South Asian and European Ancestry Show Similar Associations With Genetic Risk Score for Birth Weight Despite the Smaller Size of South Asian Newborns. Diabetes<\/em>, 71<\/em>(4), 821\u2013836. https:\/\/doi.org\/10.2337\/db21-0479<\/a><\/p>\n\n\n\n

<\/p>\n<\/div><\/div>\n\n\n\n

\n

2021<\/strong><\/p>\n\n\n\n

Evans, D. M., & Freathy, R. M. (2021). Shedding light on the genetics of fetal growth. Nature Genetics<\/em>, 53<\/em>(8), 1120\u20131121. https:\/\/doi.org\/10.1038\/s41588-021-00902-2<\/a><\/p>\n\n\n\n

Hughes, A. E., Hattersley, A. T., Flanagan, S. E., & Freathy, R. M. (2021). Two decades since the fetal insulin hypothesis: what have we learned from genetics?. Diabetologia<\/em>, 64<\/em>(4), 717\u2013726. https:\/\/doi.org\/10.1007\/s00125-021-05386-7<\/a><\/p>\n\n\n\n

Thompson, W. D., Beaumont, R. N., Kuang, A., Warrington, N. M., Ji, Y., Tyrrell, J., Wood, A. R., Scholtens, D. M., Knight, B. A., Evans, D. M., Lowe, W. L., Jr, Santorelli, G., Azad, R., Mason, D., Hattersley, A. T., Frayling, T. M., Yaghootkar, H., Borges, M. C., Lawlor, D. A., & Freathy, R. M. (2022). Fetal alleles predisposing to metabolically favorable adiposity are associated with higher birth weight. Human molecular genetics<\/em>, 31<\/em>(11), 1762\u20131775. https:\/\/doi.org\/10.1093\/hmg\/ddab356<\/a><\/p>\n\n\n\n

Thompson, W. D., Beaumont, R. N., Kuang, A., Warrington, N. M., Ji, Y., Tyrrell, J., Wood, A. R., Scholtens, D. M., Knight, B. A., Evans, D. M., Lowe, W. L., Santorelli, G., Azad, R., Mason, D., Hattersley, A. T., Frayling, T. M., Yaghootkar, H., Borges, M. C., Lawlor, D. A., & Freathy, R. M. (2021). Higher maternal adiposity reduces offspring birthweight if associated with a metabolically favourable profile. Diabetologia<\/em>, 64<\/em>(12), 2790\u20132802. https:\/\/doi.org\/10.1007\/s00125-021-05570-9<\/a><\/p>\n\n\n\n

Beaumont, R. N., Mayne, I. K., Freathy, R. M., & Wright, C. F. (2021). Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders. Human Molecular Genetics<\/em>, 30<\/em>(11), 1057\u20131066. https:\/\/doi.org\/10.1093\/hmg\/ddab060<\/a><\/p>\n\n\n\n

Hughes, A.E., Hayes, M.G., Egan, A.M., Patel, K.A., Scholtens, D.M., Lowe, L.P., Lowe, W.L. Jr, Dunne, F.P., Hattersley, A.T., Freathy, R.M. (2021). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research<\/em>, 5(175)<\/em>. https:\/\/doi.org\/10.12688\/wellcomeopenres.16097.3<\/a><\/p>\n\n\n\n

<\/p>\n<\/div><\/div>\n\n\n\n

\n

2020<\/strong><\/p>\n\n\n\n

Chen, J., Bacelis, J., Sole-Navais, P., Srivastava, A., Juodakis, J., Rouse, A., Hallman, M., Teramo, K., Melbye, M., Feenstra, B., Freathy, R. M., Smith, G. D., Lawlor, D. A., Murray, J. C., Williams, S. M., Jacobsson, B., Muglia, L. J., & Zhang, G. (2020). Dissecting maternal and fetal genetic effects underlying the associations between maternal phenotypes, birth outcomes, and adult phenotypes: A mendelian-randomization and haplotype-based genetic score analysis in 10,734 mother-infant pairs. PLoS medicine<\/em>, 17<\/em>(8), e1003305. https:\/\/doi.org\/10.1371\/journal.pmed.1003305<\/a><\/p>\n\n\n\n

Beaumont, R. N., Kotecha, S. J., Wood, A. R., Knight, B. A., Sebert, S., McCarthy, M. I., Hattersley, A. T., J\u00e4rvelin, M. R., Timpson, N. J., Freathy, R. M., & Kotecha, S. (2020). Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies. PLoS genetics<\/em>, 16<\/em>(12), e1009191. https:\/\/doi.org\/10.1371\/journal.pgen.1009191<\/a><\/p>\n\n\n\n

Moen, G. H., Beaumont, R. N., Grarup, N., Sommer, C., Shields, B. M., Lawlor, D. A., Freathy, R. M., Evans, D. M., & Warrington, N. M. (2021). Investigating the causal effect of maternal vitamin B12 and folate levels on offspring birthweight. International journal of epidemiology<\/em>, 50<\/em>(1), 179\u2013189. https:\/\/doi.org\/10.1093\/ije\/dyaa256<\/a><\/p>\n\n\n\n

Moen, G.-H., Brumpton, B., Willer, C., \u00c5svold, B. O., Birkeland, K. I., Wang, G., Neale, M. C., Freathy, R. M., Smith, G. D., Lawlor, D. A., Kirkpatrick, R. M., Warrington, N. M., & Evans, D. M. (2020). Mendelian randomization study of maternal influences on birthweight and future cardiometabolic risk in the HUNT cohort. Nature Communications<\/em>, 11<\/em>(1), 5404. https:\/\/doi.org\/10.1038\/s41467-020-19257-z<\/a><\/p>\n<\/div><\/div>\n\n\n\n

<\/p>\n\n\n\n

2019<\/strong><\/p>\n\n\n\n

Warrington, N. M., Beaumont, R. N., Horikoshi, M., Day, F. R., Helgeland, \u00d8., Laurin, C., Bacelis, J., Peng, S., Hao, K., Feenstra, B., Wood, A. R., Mahajan, A., Tyrrell, J., Robertson, N. R., Rayner, N. W., Qiao, Z., Moen, G. H., Vaudel, M., Marsit, C. J., Chen, J., \u2026 Freathy, R. M. (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature Genetics<\/em>, 51<\/em>(5), 804\u2013814. https:\/\/doi.org\/10.1038\/s41588-019-0403-1<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Key publications from our Pregnancy and Fetal Growth Genomics Group: 2026 Beaumont, R. N., Kotecha, S. J., Simpson, S. J., Kotecha, S., Freathy R. M.\u00a0(2026). 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N., Kotecha, S. J., Simpson, S. J., Kotecha, S., Freathy R. M.\u00a0(2026). 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