Search

Your search keyword '"Flatley, Christopher"' showing total 276 results
Start Over Author "Flatley, Christopher"

Refine your results

more »

more »

more »

more »
276 results on '"Flatley, Christopher"'

1. Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage

Author

Westergaard, David, Steinthorsdottir, Valgerdur, Stefansdottir, Lilja, Rohde, Palle Duun, Wu, Xiaoping, Geller, Frank, Tyrmi, Jaakko, Havulinna, Aki S., Solé-Navais, Pol, Flatley, Christopher, Ostrowski, Sisse Rye, Pedersen, Ole Birger, Erikstrup, Christian, Sørensen, Erik, Mikkelsen, Christina, Bruun, Mie Topholm, Aagaard Jensen, Bitten, Brodersen, Thorsten, Ullum, Henrik, Magnus, Per, Andreassen, Ole A., Njolstad, Pål R., Kolte, Astrid Marie, Krebs, Lone, Nyegaard, Mette, Hansen, Thomas Folkmann, Feenstra, Bjarke, Daly, Mark, Lindgren, Cecilia M., Thorleifsson, Gudmar, Stefansson, Olafur A., Sveinbjornsson, Gardar, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Banasik, Karina, Jacobsson, Bo, Laisk, Triin, Laivuori, Hannele, Stefansson, Kari, Brunak, Søren, and Nielsen, Henriette Svarre

Published
2024
Full Text
View/download PDF

2. Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism

Author

Solé-Navais, Pol, Juodakis, Julius, Ytterberg, Karin, Wu, Xiaoping, Bradfield, Jonathan P., Vaudel, Marc, LaBella, Abigail L., Helgeland, Øyvind, Flatley, Christopher, Geller, Frank, Finel, Moshe, Zhao, Mengqi, Lazarus, Philip, Hakonarson, Hakon, Magnus, Per, Andreassen, Ole A., Njølstad, Pål R., Grant, Struan F. A., Feenstra, Bjarke, Muglia, Louis J., Johansson, Stefan, Zhang, Ge, and Jacobsson, Bo

Published
2024
Full Text
View/download PDF

3. Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth

Author

Beaumont, Robin N., Flatley, Christopher, Vaudel, Marc, Wu, Xiaoping, Chen, Jing, Moen, Gunn-Helen, Skotte, Line, Helgeland, Øyvind, Solé-Navais, Pol, Banasik, Karina, Albiñana, Clara, Ronkainen, Justiina, Fadista, João, Stinson, Sara Elizabeth, Trajanoska, Katerina, Wang, Carol A., Westergaard, David, Srinivasan, Sundararajan, Sánchez-Soriano, Carlos, Bilbao, Jose Ramon, Allard, Catherine, Groleau, Marika, Kuulasmaa, Teemu, Leirer, Daniel J., White, Frédérique, Jacques, Pierre-Étienne, Cheng, Haoxiang, Hao, Ke, Andreassen, Ole A., Åsvold, Bjørn Olav, Atalay, Mustafa, Bhatta, Laxmi, Bouchard, Luigi, Brumpton, Ben Michael, Brunak, Søren, Bybjerg-Grauholm, Jonas, Ebbing, Cathrine, Elliott, Paul, Engelbrechtsen, Line, Erikstrup, Christian, Estarlich, Marisa, Franks, Stephen, Gaillard, Romy, Geller, Frank, Grove, Jakob, Hougaard, David M., Kajantie, Eero, Morgen, Camilla S., Nohr, Ellen A., Nyegaard, Mette, Palmer, Colin N. A., Pedersen, Ole Birger, Rivadeneira, Fernando, Sebert, Sylvain, Shields, Beverley M., Stoltenberg, Camilla, Surakka, Ida, Thørner, Lise Wegner, Ullum, Henrik, Vaarasmaki, Marja, Vilhjalmsson, Bjarni J., Willer, Cristen J., Lakka, Timo A., Gybel-Brask, Dorte, Bustamante, Mariona, Hansen, Torben, Pearson, Ewan R., Reynolds, Rebecca M., Ostrowski, Sisse R., Pennell, Craig E., Jaddoe, Vincent W. V., Felix, Janine F., Hattersley, Andrew T., Melbye, Mads, Lawlor, Deborah A., Hveem, Kristian, Werge, Thomas, Nielsen, Henriette Svarre, Magnus, Per, Evans, David M., Jacobsson, Bo, Järvelin, Marjo-Riitta, Zhang, Ge, Hivert, Marie-France, Johansson, Stefan, Freathy, Rachel M., Feenstra, Bjarke, and Njølstad, Pål R.

Published
2023
Full Text
View/download PDF

4. Genetic effects on the timing of parturition and links to fetal birth weight

Author

Solé-Navais, Pol, Flatley, Christopher, Steinthorsdottir, Valgerdur, Vaudel, Marc, Juodakis, Julius, Chen, Jing, Laisk, Triin, LaBella, Abigail L., Westergaard, David, Bacelis, Jonas, Brumpton, Ben, Skotte, Line, Borges, Maria C., Helgeland, Øyvind, Mahajan, Anubha, Wielscher, Matthias, Lin, Frederick, Briggs, Catherine, Wang, Carol A., Moen, Gunn-Helen, Beaumont, Robin N., Bradfield, Jonathan P., Abraham, Abin, Thorleifsson, Gudmar, Gabrielsen, Maiken E., Ostrowski, Sisse R., Modzelewska, Dominika, Nohr, Ellen A., Hypponen, Elina, Srivastava, Amit, Talbot, Octavious, Allard, Catherine, Williams, Scott M., Menon, Ramkumar, Shields, Beverley M., Sveinbjornsson, Gardar, Xu, Huan, Melbye, Mads, Lowe, Jr, William, Bouchard, Luigi, Oken, Emily, Pedersen, Ole B., Gudbjartsson, Daniel F., Erikstrup, Christian, Sørensen, Erik, Lie, Rolv T., Teramo, Kari, Hallman, Mikko, Juliusdottir, Thorhildur, Hakonarson, Hakon, Ullum, Henrik, Hattersley, Andrew T., Sletner, Line, Merialdi, Mario, Rifas-Shiman, Sheryl L., Steingrimsdottir, Thora, Scholtens, Denise, Power, Christine, West, Jane, Nyegaard, Mette, Capra, John A., Skogholt, Anne H., Magnus, Per, Andreassen, Ole A., Thorsteinsdottir, Unnur, Grant, Struan F. A., Qvigstad, Elisabeth, Pennell, Craig E., Hivert, Marie-France, Hayes, Geoffrey M., Jarvelin, Marjo-Riitta, McCarthy, Mark I., Lawlor, Deborah A., Nielsen, Henriette S., Mägi, Reedik, Rokas, Antonis, Hveem, Kristian, Stefansson, Kari, Feenstra, Bjarke, Njolstad, Pål, Muglia, Louis J., Freathy, Rachel M., Johansson, Stefan, Zhang, Ge, and Jacobsson, Bo

Published
2023
Full Text
View/download PDF

5. European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

Author

Budu-Aggrey, Ashley, Kilanowski, Anna, Sobczyk, Maria K., Shringarpure, Suyash S., Mitchell, Ruth, Reis, Kadri, Reigo, Anu, Mägi, Reedik, Nelis, Mari, Tanaka, Nao, Brumpton, Ben M., Thomas, Laurent F., Sole-Navais, Pol, Flatley, Christopher, Espuela-Ortiz, Antonio, Herrera-Luis, Esther, Lominchar, Jesus V. T., Bork-Jensen, Jette, Marenholz, Ingo, Arnau-Soler, Aleix, Jeong, Ayoung, Fawcett, Katherine A., Baurecht, Hansjorg, Rodriguez, Elke, Alves, Alexessander Couto, Kumar, Ashish, Sleiman, Patrick M., Chang, Xiao, Medina-Gomez, Carolina, Hu, Chen, Xu, Cheng-jian, Qi, Cancan, El-Heis, Sarah, Titcombe, Philip, Antoun, Elie, Fadista, João, Wang, Carol A., Thiering, Elisabeth, Wu, Baojun, Kress, Sara, Kothalawala, Dilini M., Kadalayil, Latha, Duan, Jiasong, Zhang, Hongmei, Hadebe, Sabelo, Hoffmann, Thomas, Jorgenson, Eric, Choquet, Hélène, Risch, Neil, Njølstad, Pål, Andreassen, Ole A., Johansson, Stefan, Almqvist, Catarina, Gong, Tong, Ullemar, Vilhelmina, Karlsson, Robert, Magnusson, Patrik K. E., Szwajda, Agnieszka, Burchard, Esteban G., Thyssen, Jacob P., Hansen, Torben, Kårhus, Line L., Dantoft, Thomas M., Jeanrenaud, Alexander C.S.N., Ghauri, Ahla, Arnold, Andreas, Homuth, Georg, Lau, Susanne, Nöthen, Markus M., Hübner, Norbert, Imboden, Medea, Visconti, Alessia, Falchi, Mario, Bataille, Veronique, Hysi, Pirro, Ballardini, Natalia, Boomsma, Dorret I., Hottenga, Jouke J., Müller-Nurasyid, Martina, Ahluwalia, Tarunveer S., Stokholm, Jakob, Chawes, Bo, Schoos, Ann-Marie M., Esplugues, Ana, Bustamante, Mariona, Raby, Benjamin, Arshad, Syed, German, Chris, Esko, Tõnu, Milani, Lili A., Metspalu, Andres, Terao, Chikashi, Abuabara, Katrina, Løset, Mari, Hveem, Kristian, Jacobsson, Bo, Pino-Yanes, Maria, Strachan, David P., Grarup, Niels, Linneberg, Allan, Lee, Young-Ae, Probst-Hensch, Nicole, Weidinger, Stephan, Jarvelin, Marjo-Riitta, Melén, Erik, Hakonarson, Hakon, Irvine, Alan D., Jarvis, Deborah, Nijsten, Tamar, Duijts, Liesbeth, Vonk, Judith M., Koppelmann, Gerard H., Godfrey, Keith M., Barton, Sheila J., Feenstra, Bjarke, Pennell, Craig E., Sly, Peter D., Holt, Patrick G., Williams, L. Keoki, Bisgaard, Hans, Bønnelykke, Klaus, Curtin, John, Simpson, Angela, Murray, Clare, Schikowski, Tamara, Bunyavanich, Supinda, Weiss, Scott T., Holloway, John W., Min, Josine L., Brown, Sara J., Standl, Marie, and Paternoster, Lavinia

Published
2023
Full Text
View/download PDF

7. Author Correction: Characterization of the genetic architecture of infant and early childhood body mass index

Author

Helgeland, Øyvind, Vaudel, Marc, Sole-Navais, Pol, Flatley, Christopher, Juodakis, Julius, Bacelis, Jonas, Koløen, Ingvild L., Knudsen, Gun Peggy, Johansson, Bente B., Magnus, Per, Kjennerud, Ted Reichborn, Juliusson, Petur B., Stoltenberg, Camilla, Holmen, Oddgeir L., Andreassen, Ole A., Jacobsson, Bo, Njølstad, Pål R., and Johansson, Stefan

Published
2024
Full Text
View/download PDF

8. Endometriosis‐Related Genetic Factors and Their Role in Preterm Birth: A Two‐Sample Mendelian Randomisation Study.

Author

Flatley, Christopher, Kristjansson, Dana, Ytterberg, Karin, Juodakis, Julius, Sole‐Navais, Pol, and Jacobsson, Bo

Abstract

ABSTRACT Objective Design Setting Population or Sample Methods Main Outcome Measures Results Conclusions Endometriosis affects 10% of women worldwide and is linked to adverse pregnancy outcomes, including preterm birth. Recent epidemiological and genetic studies indicate that endometriosis may influence gestational duration and the likelihood of preterm birth. This study aimed to estimate the direct genetic causal effects of endometriosis on gestational duration and preterm birth using Mendelian randomisation (MR) analysis, leveraging genetic data from recent genome‐wide association studies (GWASs).A two‐sample MR study.Summary statistics from published GWASs on European ancestry populations for endometriosis and gestational duration.Instrumental variables for endometriosis were derived from a meta‐analysis comprising 60 674 endometriosis cases and 701 926 controls.Genetic correlations and heritability estimates were calculated using linkage disequilibrium score regression. Two‐sample MR with multiplicative random‐effects inverse variance weighting assessed the primary objectives, supplemented by sensitivity analyses to validate MR assumptions.Primary outcomes were gestational duration and preterm birth, sourced from the latest GWAS data.LD score regression revealed no genetic correlation between endometriosis and either gestational duration or preterm birth. MR analysis showed no causal association between endometriosis and maternal effects on offspring gestational duration (β = 0.40, 95% CI: −0.39 to 1.19, p = 0.32) or preterm birth (OR = 0.94, 95% CI: 0.82–1.06, p = 0.36). Sensitivity analyses indicated pleiotropy but no violations of MR assumptions. Of the four loci overlapping between the gestational duration and endometriosis GWASs, three (EBF1, WNT4, and GDAP1) were identified as outliers using MR‐Presso.Contrary to observational studies, MR analyses found no direct causal link between endometriosis and gestational duration or preterm birth. Overlaps in genomic regions suggest that the relationship may be mediated through different biological pathways. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

9. Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight

Author

Solé-Navais, Pol, Flatley, Christopher, Steinthorsdottir, Valgerdur, Vaudel, Marc, Juodakis, Julius, Chen, Jing, Laisk, Triin, LaBella, Abigail L., Westergaard, David, Bacelis, Jonas, Brumpton, Ben, Skotte, Line, Borges, Maria C., Helgeland, Øyvind, Mahajan, Anubha, Wielscher, Matthias, Lin, Frederick, Briggs, Catherine, Wang, Carol A., Moen, Gunn-Helen, Beaumont, Robin N., Bradfield, Jonathan P., Abraham, Abin, Thorleifsson, Gudmar, Gabrielsen, Maiken E., Ostrowski, Sisse R., Modzelewska, Dominika, Nohr, Ellen A., Hypponen, Elina, Srivastava, Amit, Talbot, Octavious, Allard, Catherine, Williams, Scott M., Menon, Ramkumar, Shields, Beverley M., Sveinbjornsson, Gardar, Xu, Huan, Melbye, Mads, Lowe, Jr, William, Bouchard, Luigi, Oken, Emily, Pedersen, Ole B., Gudbjartsson, Daniel F., Erikstrup, Christian, Sørensen, Erik, Lie, Rolv T., Teramo, Kari, Hallman, Mikko, Juliusdottir, Thorhildur, Hakonarson, Hakon, Ullum, Henrik, Hattersley, Andrew T., Sletner, Line, Merialdi, Mario, Rifas-Shiman, Sheryl L., Steingrimsdottir, Thora, Scholtens, Denise, Power, Christine, West, Jane, Nyegaard, Mette, Capra, John A., Skogholt, Anne H., Magnus, Per, Andreassen, Ole A., Thorsteinsdottir, Unnur, Grant, Struan F. A., Qvigstad, Elisabeth, Pennell, Craig E., Hivert, Marie-France, Hayes, Geoffrey M., Jarvelin, Marjo-Riitta, McCarthy, Mark I., Lawlor, Deborah A., Nielsen, Henriette S., Mägi, Reedik, Rokas, Antonis, Hveem, Kristian, Stefansson, Kari, Feenstra, Bjarke, Njolstad, Pål, Muglia, Louis J., Freathy, Rachel M., Johansson, Stefan, Zhang, Ge, and Jacobsson, Bo

Published
2023
Full Text
View/download PDF

13. Genetic effects on the timing of parturition and links to fetal birth weight

Author

Sole-Navais, Pol, primary, Flatley, Christopher, additional, Steinthorsdottir, Valgerdur, additional, Vaudel, Marc, additional, Juodakis, Julius, additional, Chen, Jing, additional, Laisk, Triin, additional, LaBella, Abigail L, additional, Westergaard, David, additional, Bacelis, …. Jonas, additional, Zhang, Ge, additional, and Jacobsson, Bo, additional

Published
2023
Full Text
View/download PDF

15. Genetic effects on the timing of parturition and links to fetal birth weight:[Inkl. Correction]

Author

Solé-Navais, Pol, Flatley, Christopher, Steinthorsdottir, Valgerdur, Vaudel, Marc, Juodakis, Julius, Chen, Jing, Laisk, Triin, LaBella, Abigail L., Westergaard, David, Bacelis, Jonas, Brumpton, Ben, Skotte, Line, Borges, Maria C., Helgeland, Øyvind, Mahajan, Anubha, Wielscher, Matthias, Lin, Frederick, Briggs, Catherine, Wang, Carol A., Moen, Gunn Helen, Beaumont, Robin N., Bradfield, Jonathan P., Abraham, Abin, Thorleifsson, Gudmar, Gabrielsen, Maiken E., Ostrowski, Sisse R., Modzelewska, Dominika, Nohr, Ellen A., Hypponen, Elina, Srivastava, Amit, Talbot, Octavious, Allard, Catherine, Williams, Scott M., Menon, Ramkumar, Shields, Beverley M., Sveinbjornsson, Gardar, Xu, Huan, Melbye, Mads, Lowe, William, Bouchard, Luigi, Oken, Emily, Pedersen, Ole B., Gudbjartsson, Daniel F., Erikstrup, Christian, Sørensen, Erik, McCarthy, Mark I., Lie, Rolv T., Ullum, Henrik, Nyegaard, Mette, Nielsen, Henriette S., Solé-Navais, Pol, Flatley, Christopher, Steinthorsdottir, Valgerdur, Vaudel, Marc, Juodakis, Julius, Chen, Jing, Laisk, Triin, LaBella, Abigail L., Westergaard, David, Bacelis, Jonas, Brumpton, Ben, Skotte, Line, Borges, Maria C., Helgeland, Øyvind, Mahajan, Anubha, Wielscher, Matthias, Lin, Frederick, Briggs, Catherine, Wang, Carol A., Moen, Gunn Helen, Beaumont, Robin N., Bradfield, Jonathan P., Abraham, Abin, Thorleifsson, Gudmar, Gabrielsen, Maiken E., Ostrowski, Sisse R., Modzelewska, Dominika, Nohr, Ellen A., Hypponen, Elina, Srivastava, Amit, Talbot, Octavious, Allard, Catherine, Williams, Scott M., Menon, Ramkumar, Shields, Beverley M., Sveinbjornsson, Gardar, Xu, Huan, Melbye, Mads, Lowe, William, Bouchard, Luigi, Oken, Emily, Pedersen, Ole B., Gudbjartsson, Daniel F., Erikstrup, Christian, Sørensen, Erik, McCarthy, Mark I., Lie, Rolv T., Ullum, Henrik, Nyegaard, Mette, and Nielsen, Henriette S.

Abstract

The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n = 195,555), identifying 22 associated loci (24 independent variants) and an enrichment in genes differentially expressed during labor. A meta-analysis of preterm delivery (18,797 cases, 260,246 controls) revealed six associated loci and large genetic similarities with gestational duration. Analysis of the parental transmitted and nontransmitted alleles (n = 136,833) shows that 15 of the gestational duration genetic variants act through the maternal genome, whereas 7 act both through the maternal and fetal genomes and 2 act only via the fetal genome. Finally, the maternal effects on gestational duration show signs of antagonistic pleiotropy with the fetal effects on birth weight: maternal alleles that increase gestational duration have negative fetal effects on birth weight. The present study provides insights into the genetic effects on the timing of parturition and the complex maternal–fetal relationship between gestational duration and birth weight.

Published
2023

16. Pregnancy-Associated Bleeding and Genetics:Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage

Author

Westergaard, David, Steinthorsdottir, Valgerdur, Stefansdottir, Lilja, Rohde, Palle Duun, Wu, Xiaoping, Geller, Frank, Tyrmi, Jaakko, Havulinna, Aki S, Navais, Pol Sole, Flatley, Christopher, Ostrowski, Sisse Rye, Pedersen, Ole Birger, Erikstrup, Christian, Sørensen, Erik, Mikkelsen, Christina, Brun, Mie Topholm, Jensen, Bitten Aagaard, Brodersen, Thorsten, Ullum, Henrik, Magnus, Per, Andreassen, Ole A, Njolstad, Pål R, Krebs, Lone, Hansen, Thomas Folkmann, Banasik, Karina, Brunak, Søren, Nielsen, Henriette Svarre, Westergaard, David, Steinthorsdottir, Valgerdur, Stefansdottir, Lilja, Rohde, Palle Duun, Wu, Xiaoping, Geller, Frank, Tyrmi, Jaakko, Havulinna, Aki S, Navais, Pol Sole, Flatley, Christopher, Ostrowski, Sisse Rye, Pedersen, Ole Birger, Erikstrup, Christian, Sørensen, Erik, Mikkelsen, Christina, Brun, Mie Topholm, Jensen, Bitten Aagaard, Brodersen, Thorsten, Ullum, Henrik, Magnus, Per, Andreassen, Ole A, Njolstad, Pål R, Krebs, Lone, Hansen, Thomas Folkmann, Banasik, Karina, Brunak, Søren, and Nielsen, Henriette Svarre

Abstract

Bleeding in early pregnancy and postpartum hemorrhage (PPH) bear substantial risks, with the former closely associated with pregnancy loss and the latter being the foremost cause of maternal death, underscoring the severity of these complications in maternal-fetal health. Here, we investigated the genetic variation underlying aspects of pregnancy-associated bleeding and identified five loci associated with PPH through a meta-analysis of 21,512 cases and 259,500 controls. Functional annotation analysis indicated candidate genes, HAND2, TBX3, and RAP2C/ FRMD7, at three loci and showed that at each locus, associated variants were located within binding sites for progesterone receptors (PGR). Furthermore, there were strong genetic correlations with birth weight, gestational duration, and uterine fibroids. Early bleeding during pregnancy (28,898 cases and 302,894 controls) yielded no genome-wide association signals, but showed strong genetic correlation with a variety of human traits, indicative of polygenic and pleiotropic effects. Our results suggest that postpartum bleeding is related to myometrium dysregulation, whereas early bleeding is a complex trait related to underlying health and possibly socioeconomic status.

Published
2023

17. Trans-ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study

Author

Qu, Hui-Qi, Connolly, John J, Kraft, Peter, Long, Jirong, Pereira, Alexandre, Flatley, Christopher, Turman, Constance, Prins, Bram, Mentch, Frank, Lotufo, Paulo A, Magnus, Per, Stampfer, Meir J, Tamimi, Rulla, Eliassen, A Heather, Zheng, Wei, Knudsen, Gun Peggy Stromstad, Helgeland, Oyvind, Butterworth, Adam S, Hakonarson, Hakon, Sleiman, Patrick M, IHCC consortium, Qu, Hui-Qi [0000-0001-9317-4488], Hakonarson, Hakon [0000-0003-2814-7461], and Apollo - University of Cambridge Repository

Subjects
obesity, Multifactorial Inheritance, Risk Factors, polygenic risk score, Humans, body mass index, Bayes Theorem, trans-ethnic, Child, population admixture, Body Mass Index, Genome-Wide Association Study
Abstract

BACKGROUND: While polygenic risk scores hold significant promise in estimating an individual's risk of developing a complex trait such as obesity, their application in the clinic has, to date, been limited by a lack of data from non-European populations. As a collaboration model of the International Hundred K+ Cohorts Consortium (IHCC), we endeavored to develop a globally applicable trans-ethnic PRS for body mass index (BMI) through this relatively new international effort. METHODS: The polygenic risk score (PRS) model was developed, trained and tested at the Center for Applied Genomics (CAG) of The Children's Hospital of Philadelphia (CHOP) based on a BMI meta-analysis from the GIANT consortium. The validated PRS models were subsequently disseminated to the participating sites. Scores were generated by each site locally on their cohorts and summary statistics returned to CAG for final analysis. RESULTS: We show that in the absence of a well powered trans-ethnic GWAS from which to derive marker SNPs and effect estimates for PRS, trans-ethnic scores can be generated from European ancestry GWAS using Bayesian approaches such as LDpred, by adjusting the summary statistics using trans-ethnic linkage disequilibrium reference panels. The ported trans-ethnic scores outperform population specific-PRS across all non-European ancestry populations investigated including East Asians and three-way admixed Brazilian cohort. CONCLUSIONS: Here we show that for a truly polygenic trait such as BMI adjusting the summary statistics of a well powered European ancestry study using trans-ethnic LD reference results in a score that is predictive across a range of ancestries including East Asians and three-way admixed Brazilians.

Published
2023

19. Trans-ethnic Polygenic Risk Scores for Body Mass Index: An International Hundred K+ Cohorts Consortium Study

Author

Qu, Huiqi, primary, Connolly, John J, additional, Kraft, Peter, additional, Long, Jirong, additional, Pereira, Alexandre, additional, Flatley, Christopher, additional, Turman, Constance, additional, Prins, Bram, additional, Mentch, Frank, additional, Lotufo, Paulo A, additional, Magnus, Per, additional, Stampfer, Meir J, additional, Tamimi, Rulla, additional, Eliassen, A Heather, additional, Zheng, Wei, additional, Knudsen, Gun Peggy Stromstad, additional, Helgeland, Oyvind, additional, Butterworth, Adam S., additional, Hakonarson, Hakon, additional, and Sleiman, Patrick M., additional

Published
2023
Full Text
View/download PDF

21. Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism

Author

Sole-Navais, Pol, primary, Juodakis, Julius, additional, Ytterberg, Karin, additional, Wu, Xiaoping, additional, Vaudel, Marc, additional, Helgeland, Øyvind, additional, Flatley, Christopher, additional, Geller, Frank, additional, Magnus, Per, additional, Andreassen, Ole A., additional, Njølstad, Pål, additional, Feenstra, Bjarke, additional, Muglia, Louis J., additional, Johansson, Stefan, additional, Zhang, Ge, additional, and Jacobsson, Bo, additional

Published
2022
Full Text
View/download PDF

28. Trans‐ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study.

Author

Qu, Hui‐Qi, Connolly, John J, Kraft, Peter, Long, Jirong, Pereira, Alexandre, Flatley, Christopher, Turman, Constance, Prins, Bram, Mentch, Frank, Lotufo, Paulo A, Magnus, Per, Stampfer, Meir J, Tamimi, Rulla, Eliassen, A Heather, Zheng, Wei, Knudsen, Gun Peggy Stromstad, Helgeland, Oyvind, Butterworth, Adam S., Hakonarson, Hakon, and Sleiman, Patrick M.

Subjects
DISEASE risk factors, MONOGENIC & polygenic inheritance (Genetics), BODY mass index, EAST Asians, CHILDREN'S hospitals
Abstract

Background: While polygenic risk scores hold significant promise in estimating an individual's risk of developing a complex trait such as obesity, their application in the clinic has, to date, been limited by a lack of data from non‐European populations. As a collaboration model of the International Hundred K+ Cohorts Consortium (IHCC), we endeavored to develop a globally applicable trans‐ethnic PRS for body mass index (BMI) through this relatively new international effort. Methods: The polygenic risk score (PRS) model was developed, trained and tested at the Center for Applied Genomics (CAG) of The Children's Hospital of Philadelphia (CHOP) based on a BMI meta‐analysis from the GIANT consortium. The validated PRS models were subsequently disseminated to the participating sites. Scores were generated by each site locally on their cohorts and summary statistics returned to CAG for final analysis. Results: We show that in the absence of a well powered trans‐ethnic GWAS from which to derive marker SNPs and effect estimates for PRS, trans‐ethnic scores can be generated from European ancestry GWAS using Bayesian approaches such as LDpred, by adjusting the summary statistics using trans‐ethnic linkage disequilibrium reference panels. The ported trans‐ethnic scores outperform population specific‐PRS across all non‐European ancestry populations investigated including East Asians and three‐way admixed Brazilian cohort. Conclusions: Here we show that for a truly polygenic trait such as BMI adjusting the summary statistics of a well powered European ancestry study using trans‐ethnic LD reference results in a score that is predictive across a range of ancestries including East Asians and three‐way admixed Brazilians. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

29. Interrogating the causal effects of maternal circulating CRP on gestational duration and birth weight

Author

Chen, Jing, primary, Navais, Pol Sole, additional, Xu, Huan, additional, Flatley, Christopher, additional, Bacelis, Jonas, additional, Monangi, Nagendra, additional, Kacerovsky, Marian, additional, Hallman, Mikko, additional, Teramo, Kari, additional, Lawlor, Deborah A., additional, Murray, Jeffrey C., additional, Jacobsson, Bo, additional, Muglia, Louis J., additional, and Zhang, Ge, additional

Published
2022
Full Text
View/download PDF

32. Characterization of the genetic architecture of BMI in infancy and early childhood reveals age-specific effects and implicates pathways involved in Mendelian obesity

Author

Helgeland, Oyvind, primary, Vaudel, Marc, additional, Sole-Navais, Pol, additional, Flatley, Christopher, additional, Juodakis, Julius, additional, Bacelis, Jonas, additional, Koloen, Ingvild L., additional, Peggy Knudsen, Gun, additional, Johansson, Bente B., additional, Magnus, Per, additional, Reichborn Kjennerud, Ted, additional, Juliusson, Petur B., additional, Stoltenberg, Camilla, additional, Holmen, Oddgeir L., additional, Andreassen, Ole, additional, Jacobsson, Bo, additional, Njolstad, Pal Rasmus, additional, and Johansson, Stefan, additional

Published
2021
Full Text
View/download PDF

34. Changes in data management contribute to temporal variation in gestational duration distribution in the Swedish Medical Birth Registry

Author

Modzelewska, Dominika, Sole-Navais, Pol, Sandström, Anna, Zhang, Ge, Muglia, Louis J., Flatley, Christopher, Nilsson, Staffan, Jacobsson, Bo, Modzelewska, Dominika, Sole-Navais, Pol, Sandström, Anna, Zhang, Ge, Muglia, Louis J., Flatley, Christopher, Nilsson, Staffan, and Jacobsson, Bo

Abstract

Multiple factors contribute to gestational duration variability. Understanding the sources of variability allows to design better association studies and assess public health measures. Here, we aimed to assess geographical and temporal changes in the determination of gestational duration and its reporting in Sweden between 1973 and 2012. Singleton live births between 1973 and 2012 were retrieved from the Swedish Medical Birth Register. Gestational duration trends in percentiles and rates of pre- and post-term deliveries were analyzed by plotting the values over time. Temporal changes in gestational duration based on ultrasound and last menstrual period (LMP) estimation methods were compared. Intervals between LMP date and LMP-based due date were analyzed to assess changes in expected gestational duration. In total, 3 940 577 pregnancies were included. From 1973 until 1985, the median of gestational duration estimated based on LMP or ultrasound decreased from 283 to 278 days, and remained stable until 2012. The distribution was relatively stable when ultrasound-based estimates were used. Until the mid-1990s, there was a higher incidence than expected of births occurring on every seventh gestational day from day 157 onward. On an average, these gestational durations were reported 1.8 times more often than adjacent durations. Until 1989, the most common expected gestational duration was 280 days, and thereafter, it was 279 days. The expected gestational duration varied from 279 to 281 days across different Swedish counties. During leap years, the expected gestational duration was one day longer. Consequently, leap years were also associated with significantly higher preterm and lower post-term delivery rates than non-leap years. Changes in data handling and obstetrical practices over the years contribute to gestational duration variation. The resulting increase in variability might reduce precision in association studies and hamper the assessment of public health measu

Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results