Publications

2025

Nakanga, W. P., Sekitoleko, I., Andrews, R. C., Hughes A. E., Salome, T., Freathy R. M. et al (2025). 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. Preprint Lancet. http://dx.doi.org/10.2139/ssrn.5040689 

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. medRxiv. https://doi.org/10.1101/2025.10.23.25338694 

Brito Nunes, C., Rukins, V., Cissé, 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. medRxiv. https://doi.org/10.1101/2025.08.19.25333735

Cissé, 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

Decina, C. S., Beaumont, R. N., Juodakis, J., Warrington, N. M., Patel, K. A., Njølstad, 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, 23(612). https://doi.org/10.1186/s12916-025-04432-0

Decina C. S., Warrington N. M., Beaumont R. N., Bian B., Brito Nunes C., Wang G., Lowe Jr. W. L. et al. (2025). Examining the association between fetal HLA-C, maternal KIR haplotypes and birth weight. medRxiv. https://doi.org/10.1101/2025.04.09.25325484

Beaumont, R. N., Kotecha, S. J., Simpson, S. J., Kotecha, S., & Freathy, R. M. (2025). Genetic score associations with birthweight in preterm-born infants compared with term-born infants. medRxiv. https://doi.org/10.1101/2025.01.21.25320880

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’Rahilly, S., Stefansson, K., Ong, K. K., … 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, 16(1), 648. https://doi.org/10.1038/s41467-024-55761-2

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

2024

Borges, M. C., Clayton, G. L., Freathy, R. M., Felix, J. F., Fernández-Sanlés, 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., … Lawlor, D. A. (2024). Integrating multiple lines of evidence to assess the effects of maternal BMI on pregnancy and perinatal outcomes. BMC medicine, 22(1), 32. https://doi.org/10.1186/s12916-023-03167-0

Cissé, A. H., & Freathy, R. M. (2024). New insights into the genetics of diabetes in pregnancy. Nature Genetics, 56(3), 358–359. https://doi.org/10.1038/s41588-024-01675-0

Jaitner, A., Vaudel, M., Tsaneva-Atanasova, K., Njølstad, 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. 24(1), 238. https://doi.org/10.1186/s12884-024-06431-0

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 (SSRN Scholarly Paper 5040689). https://doi.org/10.2139/ssrn.5040689

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, 14(9), Article 9. https://doi.org/10.3390/metabo14090508

D’Urso, S., Moen, G.-H., Hwang, L.-D., Hannigan, L. J., Corfield, E. C., Ask, H., Johannson, S., Njølstad, 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, 81(2), 144–156. https://doi.org/10.1001/jamapsychiatry.2023.3872

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’s effect on offspring birth weight: A Mendelian Randomisation study. BMC Pregnancy and Childbirth, 24(1), 65. https://doi.org/10.1186/s12884-024-06250-3

Hughes, A. E., & Freathy, R. M. (2024). Nausea and vomiting in pregnancy linked to hormone from fetus. Nature, 625(7996), 670–671. https://doi.org/10.1038/d41586-023-03940-4

2023

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, 133(6), e165402. https://doi.org/10.1172/JCI165402

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, 88, 104441. https://doi.org/10.1016/j.ebiom.2023.104441

Njølstad, P. R., Feenstra, B., & Freathy, R. M. (2023). Regulation of placental growth is a complex interplay of maternal and fetal genomes. Nat Genet, 55, 1786–1787. https://doi.org/10.1038/s41588-023-01519-3

Beaumont, R. N., Flatley, C., Vaudel, M., Wu, X., Chen, J., Moen, G. H., Skotte, L., Helgeland, Ø., Solé-Navais, P., Banasik, K., Albiñana, C., Ronkainen, J., Fadista, J., Stinson, S. E., Trajanoska, K., Wang, C. A., Westergaard, D., Srinivasan, S., Sánchez-Soriano, C., Bilbao, J. R., … Njølstad, P. R. (2023). Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. Nature Genetics, 55(11), 1807–1819. https://doi.org/10.1038/s41588-023-01520-w

Solé-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, Ø., Mahajan, A., Wielscher, M., Lin, F., Briggs, C., Wang, C. A., … Jacobsson, B. (2023). Genetic effects on the timing of parturition and links to fetal birth weight. Nature Genetics, 55(4), 559–567. https://doi.org/10.1038/s41588-023-01343-9

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, 52(1), 178–189. https://doi.org/10.1093/ije/dyac186

2022

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., … Mägi, R. (2022). Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. Human molecular genetics, 31(19), 3377–3391. https://doi.org/10.1093/hmg/ddac050

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, 22(1), 504. https://doi.org/10.1186/s12887-022-03554-1

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., … 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, 71(4), 821–836. https://doi.org/10.2337/db21-0479

2021

Evans, D. M., & Freathy, R. M. (2021). Shedding light on the genetics of fetal growth. Nature Genetics, 53(8), 1120–1121. https://doi.org/10.1038/s41588-021-00902-2

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, 64(4), 717–726. https://doi.org/10.1007/s00125-021-05386-7

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, 31(11), 1762–1775. https://doi.org/10.1093/hmg/ddab356

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, 64(12), 2790–2802. https://doi.org/10.1007/s00125-021-05570-9

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, 30(11), 1057–1066. https://doi.org/10.1093/hmg/ddab060

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, 5(175). https://doi.org/10.12688/wellcomeopenres.16097.3

2020

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, 17(8), e1003305. https://doi.org/10.1371/journal.pmed.1003305

Beaumont, R. N., Kotecha, S. J., Wood, A. R., Knight, B. A., Sebert, S., McCarthy, M. I., Hattersley, A. T., Järvelin, 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, 16(12), e1009191. https://doi.org/10.1371/journal.pgen.1009191

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, 50(1), 179–189. https://doi.org/10.1093/ije/dyaa256

Moen, G.-H., Brumpton, B., Willer, C., Åsvold, 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, 11(1), 5404. https://doi.org/10.1038/s41467-020-19257-z