Current knowledge on genetic variants shaping placental transcriptome and their link to gestational and postnatal health.
作者： Triin Kikas , Laura Kasak , Maris Laan
DOI: 10.1016/J.PLACENTA.2021.02.009
关键词:
摘要: Abstract Despite the indispensable role of placenta in successful course pregnancy, regulation its dynamic transcriptome is still underexplored. The purpose this literature review was to give an overview and draw attention contribution genetic variation shaping human placental gene expression. Studies shaped by chromosomal variants are limited may be confounded cellular mosaicism somatic genomic rearrangements. Even relatively simple cases, such as aneuploidies, appears differ from assumed systematically increased transcript levels involved chromosomes. Single nucleotide modulating expression referred quantitative trait loci (eQTLs) have been analyzed only ten candidate three genome-wide association studies (GWAS). latter identified 417 confident eGenes, supported at least two independent studies. Functional profiling eGenes highlighted biological pathways important immune response or transmembrane transport activity. A fraction eQTLs (1–3%) co-localize with GWAS for adult disorders (metabolic, immunological, neurological), suggesting a co-contributory developmental programming health. Some risk factors adverse pregnancy outcomes, rs4769613 (C > T), located near FLT1 confidently associated preeclampsia. More needed map different cell types across trimesters normal complicated gestations clarify what extent these heritable contribute maternal offspring disease risks.
sci-hub.st 参考文章(67)
Thorunn A. Olafsdottir, Fannar Theodors, Kristbjorg Bjarnadottir, Unnur Steina Bjornsdottir, Arna B. Agustsdottir, Olafur A. Stefansson, Erna V. Ivarsdottir, Jon K. Sigurdsson, Stefania Benonisdottir, Gudmundur I. Eyjolfsson, David Gislason, Thorarinn Gislason, Steinunn Guðmundsdóttir, Arnaldur Gylfason, Bjarni V. Halldorsson, Gisli H. Halldorsson, Thorhildur Juliusdottir, Anna M. Kristinsdottir, Dora Ludviksdottir, Bjorn R. Ludviksson, Gisli Masson, Kristjan Norland, Pall T. Onundarson, Isleifur Olafsson, Olof Sigurdardottir, Lilja Stefansdottir, Gardar Sveinbjornsson, Vinicius Tragante, Daniel F. Gudbjartsson, Gudmar Thorleifsson, Patrick Sulem, Unnur Thorsteinsdottir, Gudmundur L. Norddahl, Ingileif Jonsdottir, Kari Stefansson, Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis Nature Communications. ,vol. 11, pp. 1- 11 ,(2020) , 10.1038/S41467-019-14144-8
Myrthe A.J. Smits, Merel van Maarle, Geert Hamer, Sebastiaan Mastenbroek, Mariëtte Goddijn, Madelon van Wely, Cytogenetic testing of pregnancy loss tissue: a meta-analysis. Reproductive Biomedicine Online. ,vol. 40, pp. 867- 879 ,(2020) , 10.1016/J.RBMO.2020.02.001
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum, Laura D Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M England, Eleanor G Seaby, Jack A Kosmicki, Raymond K Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X Chong, Kaitlin E Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H O’Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S Ware, Christopher Vittal, Irina M Armean, Louis Bergelson, Kristian Cibulskis, Kristen M Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E Talkowski, Benjamin M Neale, Mark J Daly, Daniel G MacArthur, None, The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. ,vol. 581, pp. 434- 443 ,(2020) , 10.1038/S41586-020-2308-7
Haley J Abel, David E Larson, Allison A Regier, Colby Chiang, Indraniel Das, Krishna L Kanchi, Ryan M Layer, Benjamin M Neale, William J Salerno, Catherine Reeves, Steven Buyske, Tara C Matise, Donna M Muzny, Michael C Zody, Eric S Lander, Susan K Dutcher, Nathan O Stitziel, Ira M Hall, None, Mapping and Characterization of Structural Variation in 17,795 Human Genomes Nature. ,vol. 583, pp. 83- 89 ,(2020) , 10.1038/S41586-020-2371-0
Triin Kikas, Rain Inno, Kaspar Ratnik, Kristiina Rull, Maris Laan, C-allele of rs4769613 Near FLT1 Represents a High-Confidence Placental Risk Factor for Preeclampsia. Hypertension. ,vol. 76, pp. 884- 891 ,(2020) , 10.1161/HYPERTENSIONAHA.120.15346
Amanda Vlahos, Toby Mansell, David Burgner, Fiona Collier, Boris Novakovic, Richard Saffery, Peter Vuillermin, Anne-Louise Ponsonby, John Carlin, Katie Allen, Mimi Tang, Sarath Ranganathan, Terry Dwyer, Peter Sly, None, Determinants of placental leptin receptor gene expression and association with measures at birth. Placenta. ,vol. 100, pp. 89- 95 ,(2020) , 10.1016/J.PLACENTA.2020.08.010
Sarah Kim-Hellmuth, François Aguet, Meritxell Oliva, Manuel Muñoz-Aguirre, Silva Kasela, Valentin Wucher, Stephane E Castel, Andrew R Hamel, Ana Viñuela, Amy L Roberts, Serghei Mangul, Xiaoquan Wen, Gao Wang, Alvaro N Barbeira, Diego Garrido-Martín, Brian B Nadel, Yuxin Zou, Rodrigo Bonazzola, Jie Quan, Andrew Brown, Angel Martinez-Perez, José Manuel Soria, GTEx Consortium §, Gad Getz, Emmanouil T Dermitzakis, Kerrin S Small, Matthew Stephens, Hualin S Xi, Hae Kyung Im, Roderic Guigó, Ayellet V Segrè, Barbara E Stranger, Kristin G Ardlie, Tuuli Lappalainen, Cell type specific genetic regulation of gene expression across human tissues Science. ,vol. 369, pp. 1318- 1330 ,(2020) , 10.1126/SCIENCE.AAZ8528
F Aguet, AN Barbeira, R Bonazzola, A Brown, SE Castel, B Jo, S Kasela, S Kim-Hellmuth, Y Liang, M Oliva, ED Flynn, P Parsana, L Fresard, ER Gamazon, AR Hamel, Y He, F Hormozdiari, P Mohammadi, M Muñoz-Aguirre, YS Park, A Saha, AV Segrè, BJ Strober, X Wen, V Wucher, KG Ardlie, A Battle, CD Brown, N Cox, S Das, ET Dermitzakis, BE Engelhardt, D Garrido-Martín, NR Gay, GA Getz, R Guigó, RE Handsaker, PJ Hoffman, HK Im, S Kashin, A Kwong, T Lappalainen, X Li, DG MacArthur, SB Montgomery, JM Rouhana, M Stephens, BE Stranger, E Todres, A Viñuela, G Wang, Y Zou, S Anand, S Gabriel, A Graubert, K Hadley, KH Huang, SR Meier, JL Nedzel, DT Nguyen, B Balliu, DF Conrad, DJ Cotter, OM deGoede, J Einson, E Eskin, TY Eulalio, NM Ferraro, MJ Gloudemans, L Hou, M Kellis, S Mangul, DC Nachun, AB Nobel, Y Park, AS Rao, F Reverter, C Sabatti, AD Skol, NA Teran, F Wright, PG Ferreira, G Li, M Melé, E Yeger-Lotem, ME Barcus, D Bradbury, T Krubit, JA McLean, L Qi, K Robinson, NV Roche, AM Smith, L Sobin, DE Tabor, A Undale, J Bridge, LE Brigham, BA Foster, Transcriptomic signatures across human tissues identify functional rare genetic variation Science. ,vol. 369, ,(2020) , 10.1126/SCIENCE.AAZ5900
Ali J. Marian, Clinical Interpretation and Management of Genetic Variants JACC: Basic to Translational Science. ,vol. 5, pp. 1029- 1042 ,(2020) , 10.1016/J.JACBTS.2020.05.013
Valgerdur Steinthorsdottir, Ralph McGinnis, Nicholas O Williams, Lilja Stefansdottir, Gudmar Thorleifsson, Scott Shooter, João Fadista, Jon K Sigurdsson, Kirsi M Auro, Galina Berezina, Maria-Carolina Borges, Suzannah Bumpstead, Jonas Bybjerg-Grauholm, Irina Colgiu, Vivien A Dolby, Frank Dudbridge, Stephanie M Engel, Christopher S Franklin, Michael L Frigge, Yr Frisbaek, Reynir T Geirsson, Frank Geller, Solveig Gretarsdottir, Daniel F Gudbjartsson, Quaker Harmon, David Michael Hougaard, Tatyana Hegay, Anna Helgadottir, Sigrun Hjartardottir, Tiina Jääskeläinen, Hrefna Johannsdottir, Ingileif Jonsdottir, Thorhildur Juliusdottir, Noor Kalsheker, Abdumadjit Kasimov, John P Kemp, Katja Kivinen, Kari Klungsøyr, Wai K Lee, Mads Melbye, Zosia Miedzybrodska, Ashley Moffett, Dilbar Najmutdinova, Firuza Nishanova, Thorunn Olafsdottir, Markus Perola, Fiona Broughton Pipkin, Lucilla Poston, Gordon Prescott, Saedis Saevarsdottir, Damilya Salimbayeva, Paula Juliet Scaife, Line Skotte, Eleonora Staines-Urias, Olafur A Stefansson, Karina Meden Sørensen, Liv Cecilie Vestrheim Thomsen, Vinicius Tragante, Lill Trogstad, Nigel AB Simpson, FINNPEC Consortium Laivuori Hannele 17 44 45 Heinonen Seppo 46 Kajantie Eero 47 48 49 50 Kere Juha 51 52 53 Kivinen Katja 21 Pouta Anneli 54, Tamara Aripova, Juan P Casas, Anna F Dominiczak, James J Walker, Unnur Thorsteinsdottir, Ann-Charlotte Iversen, Bjarke Feenstra, Deborah A Lawlor, Heather Allison Boyd, Per Magnus, Hannele Laivuori, Nodira Zakhidova, Gulnara Svyatova, Kari Stefansson, Linda Morgan, None, Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women Nature Communications. ,vol. 11, pp. 5976- 5976 ,(2020) , 10.1038/S41467-020-19733-6