Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration
| العنوان: | Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration |
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| المؤلفون: | Maria Carolina Borges, M. Geoffrey Hayes, Ke Hao, Carol A. Wang, Marjo-Riitta Järvelin, Niina Pitkänen, Ilkka Kalliala, Mariona Bustamante, Olli T. Raitakari, Bridget A. Knight, Robin N Beaumont, Matthew T. Weirauch, Line Skotte, Matthias Wielscher, Mark I. McCarthy, Klaus Bønnelykke, Vincent W. V. Jaddoe, Elina Hyppönen, Ole Mors, Tarunveer S. Ahluwalia, Thomas Werge, Frank Geller, Jonathan P. Bradfield, Vivek Appadurai, Kristin Skogstrand, Merete Nordentoft, Suzanne Vogelezang, Preben Bo Mortensen, Xueping Liu, Daniel Miller, Hakon Hakonarson, João Fadista, Pål R. Njølstad, Leah C. Kottyan, Wesley K. Thompson, Bruce Bedell, Katja Pahkala, Stefan Johansson, Dorte Helenius, Louis J. Muglia, Janine F. Felix, Rachel M. Freathy, Heather A. Boyd, Bjarke Feenstra, Ge Zhang, Anubha Mahajan, Alfonso Buil, Bo Jacobsson, Martine Vrijheid, Frederick T.J. Lin, William L. Lowe, Mads Melbye, Ron Nudel, Denise M. Scholtens, Julius Juodakis, Shouneng Peng, Christine Power, Andrew J. Schork, Jeffrey C. Murray, David M. Hougaard, Craig E. Pennell, Øyvind Helgeland, Struan F.A. Grant, Kelli K. Ryckman, Mary L. Marazita, Xiaoting Chen, Jonas Bacelis, Anders D. Børglum, Debbie A Lawlor, Hans Bisgaard, Robert M. Rossi, Fernando Rivadeneira, Leo-Pekka Lyytikäinen, Rebecca K. Vinding |
| المساهمون: | Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, Clinicum, Helsinki University Hospital Area, Epidemiology, Internal Medicine, Pediatrics, Erasmus MC other, Liu, Xueping, Helenius, Dorte, Skotte, Line, Beaumont, Robin N, Hyppönen, Elina, Feenstra, Bjarke, UNIVERSITY OF OULU |
| المصدر: | Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019) Liu, X, Helenius, D, Skotte, L, Beaumont, R N, Wielscher, M, Geller, F, Juodakis, J, Mahajan, A, Bradfield, J P, Lin, F T J, Vogelezang, S, Bustamante, M, Ahluwalia, T S, Pitkänen, N, Wang, C A, Bacelis, J, Borges, M C, Zhang, G, Bedell, B A, Rossi, R M, Skogstrand, K, Peng, S, Thompson, W K, Appadurai, V, Lawlor, D A, Kalliala, I, Power, C, McCarthy, M I, Boyd, H A, Marazita, M L, Hakonarson, H, Hayes, M G, Scholtens, D M, Rivadeneira, F, Jaddoe, V W V, Vinding, R K, Bisgaard, H, Knight, B A, Pahkala, K, Raitakari, O, Helgeland, Ø, Johansson, S, Njølstad, P R, Fadista, J, Schork, A J, Nudel, R, Miller, D E, Chen, X, Weirauch, M T, Mortensen, P B, Børglum, A D, Nordentoft, M, Mors, O, Hao, K, Ryckman, K K, Hougaard, D M, Kottyan, L C, Pennell, C E, Lyytikainen, L-P, Bønnelykke, K, Vrijheid, M, Felix, J F, Lowe, W L, Grant, S F A, Hyppönen, E, Jacobsson, B, Jarvelin, M-R, Muglia, L J, Murray, J C, Freathy, R M, Werge, T M, Melbye, M, Buil, A & Feenstra, B 2019, ' Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration ', Nature Communications, vol. 10, no. 1, 3927 . https://doi.org/10.1038/s41467-019-11881-8Test Nature communications, vol 10, iss 1 Nature Communications Liu, X, Helenius, D, Skotte, L, Beaumont, R N, Wielscher, M, Geller, F, Juodakis, J, Mahajan, A, Bradfield, J P, Lin, F T J, Vogelezang, S, Bustamante, M, Ahluwalia, T S, Pitkänen, N, Wang, C A, Bacelis, J, Borges, M C, Zhang, G, Bedell, B A, Rossi, R M, Skogstrand, K, Peng, S, Thompson, W K, Appadurai, V, Lawlor, D A, Kalliala, I, Power, C, McCarthy, M I, Boyd, H A, Marazita, M L, Hakonarson, H, Hayes, M G, Scholtens, D M, Rivadeneira, F, Jaddoe, V W V, Vinding, R K, Bisgaard, H, Knight, B A, Pahkala, K, Raitakari, O, Helgeland, Ø, Johansson, S, Njølstad, P R, Fadista, J, Schork, A J, Nudel, R, Miller, D E, Chen, X, Weirauch, M T, Mortensen, P B, Børglum, A D, Nordentoft, M, Mors, O, Hao, K, Ryckman, K K, Hougaard, D M, Kottyan, L C, Pennell, C E, Lyytikainen, L-P, Bønnelykke, K, Vrijheid, M, Felix, J F, Lowe, W L, Grant, S F A, Hyppönen, E, Jacobsson, B, Jarvelin, M-R, Muglia, L J, Murray, J C, Freathy, R M, Werge, T M, Melbye, M, Buil, A & Feenstra, B 2019, ' Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration ', Nature Communications, vol. 10, 3927 (2019) . https://doi.org/10.1038/s41467-019-11881-8Test Nature Communications, 10:3927. Nature Publishing Group Liu, X, Helenius, D, Skotte, L, Beaumont, R N, Wielscher, M, Geller, F, Juodakis, J, Mahajan, A, Bradfield, J P, Lin, F T J, Vogelezang, S, Bustamante, M, Ahluwalia, T S, Pitkänen, N, Wang, C A, Bacelis, J, Borges, M C, Zhang, G, Bedell, B A, Rossi, R M, Skogstrand, K, Peng, S, Thompson, W K, Appadurai, V, Lawlor, D A, Kalliala, I, Power, C, McCarthy, M I, Boyd, H A, Marazita, M L, Hakonarson, H, Hayes, M G, Scholtens, D M, Rivadeneira, F, Jaddoe, V W V, Vinding, R K, Bisgaard, H, Knight, B A, Pahkala, K, Raitakari, O, Helgeland, Ø, Johansson, S, Njølstad, P R, Fadista, J, Schork, A J, Nudel, R, Mortensen, P B, Børglum, A D, Mors, O & Jacobsson, B 2019, ' Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration ', Nature Communications, vol. 10, no. 1, 3927, pp. 1-13 . https://doi.org/10.1038/s41467-019-11881-8Test |
| بيانات النشر: | Nature Portfolio, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | 0301 basic medicine, LD SCORE REGRESSION, General Physics and Astronomy, Genome-wide association study, 02 engineering and technology, Reproductive health and childbirth, Bioinformatics, Low Birth Weight and Health of the Newborn, Genome-wide association studies, 3123 Gynaecology and paediatrics, Pregnancy, Genotype, Infant Mortality, Genetics research, 2.1 Biological and endogenous factors, WIDE ASSOCIATION, GWAS, FUNCTIONAL VARIATION, Aetiology, lcsh:Science, Pediatric, Multidisciplinary, Genome, Gestational age, Single Nucleotide, 021001 nanoscience & nanotechnology, 3. Good health, Multidisciplinary Sciences, Chromosomes, Human, Pair 2, Pair 2, Gestation, Science & Technology - Other Topics, Premature Birth, Cytokines, Female, 0210 nano-technology, Human, Reproductive signs and symptoms, EXPRESSION, PRETERM BIRTH, Science, Reproductive biology, Locus (genetics), Gestational Age, Biology, Polymorphism, Single Nucleotide, SEQUENCE, Article, General Biochemistry, Genetics and Molecular Biology, Chromosomes, 03 medical and health sciences, AGE, Fetus, Preterm, medicine, Genetics, SNP, Humans, Polymorphism, Science & Technology, Genome, Human, Human Genome, Infant, Newborn, Infant, General Chemistry, Perinatal Period - Conditions Originating in Perinatal Period, medicine.disease, Newborn, 030104 developmental biology, Good Health and Well Being, lcsh:Q, WEIGHT, 3111 Biomedicine, HAPLOTYPES, Genome-Wide Association Study |
| الوصف: | The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, and postterm birth in 84,689 infants. One locus on chromosome 2q13 is associated with gestational duration; the association is replicated in 9,291 additional infants (combined P = 3.96 × 10−14). Analysis of 15,588 mother-child pairs shows that the association is driven by fetal rather than maternal genotype. Functional experiments show that the lead SNP, rs7594852, alters the binding of the HIC1 transcriptional repressor. Genes at the locus include several interleukin 1 family members with roles in pro-inflammatory pathways that are central to the process of parturition. Further understanding of the underlying mechanisms will be of great public health importance, since giving birth either before or after the window of term gestation is associated with increased morbidity and mortality. Gestational duration depends on both maternal and fetal genetic influences. Here, the authors perform a fetal genome-wide association meta-analysis and find that a locus on 2q13 is associated with pregnancy duration and further show that the lead SNP rs7594852 changes the binding properties of transcriptional repressor HIC1. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2041-1723 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdce669ac365fdce646e8f4934aa82cbTest https://doaj.org/article/0663e700e52e44dd96778ff7a9670192Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....cdce669ac365fdce646e8f4934aa82cb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20411723 |
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