Publisher correction: understanding the genetic complexity of puberty timing across the allele frequency spectrum
Pubertal timing varies considerably and is associated with later health outcomes. We performed multi-ancestry genetic analyses on ~800,000 women, identifying 1,080 signals for age at menarche. Collectively, these explained 11% of trait variance in an independent sample. Women at the top and bottom 1...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
August 2024
|
| In: |
Nature genetics
Year: 2024, Jahrgang: 56, Heft: 8, Pages: 1763-1764 |
| ISSN: | 1546-1718 |
| DOI: | 10.1038/s41588-024-01857-w |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41588-024-01857-w Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41588-024-01857-w 
|
| Verfasserangaben: | Katherine A. Kentistou, Lena R. Kaisinger, Stasa Stankovic, Marc Vaudel, Edson Mendes de Oliveira, Andrea Messina, Robin G. Walters, Xiaoxi Liu, Alexander S. Busch, Hannes Helgason, Deborah J. Thompson, Federico Santoni, Konstantin M. Petricek, Yassine Zouaghi, Isabel Huang-Doran, Daniel F. Gudbjartsson, Eirik Bratland, Kuang Lin, Eugene J. Gardner, Yajie Zhao, Raina Y. Jia, Chikashi Terao, Marjorie J. Riggan, Hermann Brenner, Frederico Canzian, Jenny Chang-Claude, Ute Haman [und 193 weitere] ; the Lifelines Cohort Study, the Danish Blood Donor Study, the Ovarian Cancer Association Consortium, the Breast Cancer Association Consortium, the Biobank Japan Project, the China Kadoorie Biobank Collaborative Group |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1924278073 | ||
| 003 | DE-627 | ||
| 005 | 20251023213833.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 250502s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1038/s41588-024-01857-w |2 doi | |
| 035 | |a (DE-627)1924278073 | ||
| 035 | |a (DE-599)KXP1924278073 | ||
| 035 | |a (OCoLC)1528044636 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Kentistou, Katherine A. |e VerfasserIn |0 (DE-588)1364364549 |0 (DE-627)1924228785 |4 aut | |
| 245 | 1 | 0 | |a Publisher correction: understanding the genetic complexity of puberty timing across the allele frequency spectrum |c Katherine A. Kentistou, Lena R. Kaisinger, Stasa Stankovic, Marc Vaudel, Edson Mendes de Oliveira, Andrea Messina, Robin G. Walters, Xiaoxi Liu, Alexander S. Busch, Hannes Helgason, Deborah J. Thompson, Federico Santoni, Konstantin M. Petricek, Yassine Zouaghi, Isabel Huang-Doran, Daniel F. Gudbjartsson, Eirik Bratland, Kuang Lin, Eugene J. Gardner, Yajie Zhao, Raina Y. Jia, Chikashi Terao, Marjorie J. Riggan, Hermann Brenner, Frederico Canzian, Jenny Chang-Claude, Ute Haman [und 193 weitere] ; the Lifelines Cohort Study, the Danish Blood Donor Study, the Ovarian Cancer Association Consortium, the Breast Cancer Association Consortium, the Biobank Japan Project, the China Kadoorie Biobank Collaborative Group |
| 264 | 1 | |c August 2024 | |
| 300 | |a 2 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a The Lifelines Cohort Study ; The Danish Blood Donor Study ; The Ovarian Cancer Association Consortium: Jenny Chang-Claude, Ute Hamann ; The Breast Cancer Association Consortium: Hermann Brenner, Frederico Canzian, Jenny Chang-Claude, Ute Hamann ; The Biobank Japan Project, The China Kadoorie Biobank Collaborative Group | ||
| 500 | |a Online verfügbar: 09. Juli 2024 | ||
| 500 | |a Gesehen am 02.05.2025 | ||
| 520 | |a Pubertal timing varies considerably and is associated with later health outcomes. We performed multi-ancestry genetic analyses on ~800,000 women, identifying 1,080 signals for age at menarche. Collectively, these explained 11% of trait variance in an independent sample. Women at the top and bottom 1% of polygenic risk exhibited ~11 and ~14-fold higher risks of delayed and precocious puberty, respectively. We identified several genes harboring rare loss-of-function variants in ~200,000 women, including variants in ZNF483, which abolished the impact of polygenic risk. Variant-to-gene mapping approaches and mouse gonadotropin-releasing hormone neuron RNA sequencing implicated 665 genes, including an uncharacterized G-protein-coupled receptor, GPR83, which amplified the signaling of MC3R, a key nutritional sensor. Shared signals with menopause timing at genes involved in DNA damage response suggest that the ovarian reserve might signal centrally to trigger puberty. We also highlight body size-dependent and independent mechanisms that potentially link reproductive timing to later life disease. | ||
| 650 | 4 | |a Genome-wide association studies | |
| 650 | 4 | |a Obesity | |
| 700 | 1 | |a Kaisinger, Lena R. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Stankovic, Stasa |e VerfasserIn |4 aut | |
| 700 | 1 | |8 1\p |a Vaudel, Marc |e VerfasserIn |0 (DE-588)1153485575 |0 (DE-627)1014907667 |0 (DE-576)500254907 |4 aut | |
| 700 | 1 | |a Mendes de Oliveira, Edson |e VerfasserIn |4 aut | |
| 700 | 1 | |a Messina, Andrea |e VerfasserIn |4 aut | |
| 700 | 1 | |8 2\p |a Walters, Robin |e VerfasserIn |0 (DE-588)126029255X |0 (DE-627)1936532247 |4 aut | |
| 700 | 1 | |a Liu, Xiaoxi |e VerfasserIn |4 aut | |
| 700 | 1 | |a Busch, Alexander S. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Helgason, Hannes |e VerfasserIn |4 aut | |
| 700 | 1 | |a Thompson, Deborah J. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Santoni, Federico |e VerfasserIn |4 aut | |
| 700 | 1 | |a Petricek, Konstantin M. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Zouaghi, Yassine |e VerfasserIn |4 aut | |
| 700 | 1 | |a Huang-Doran, Isabel |e VerfasserIn |4 aut | |
| 700 | 1 | |8 3\p |a Guðbjartsson, Daniel |d 1973- |e VerfasserIn |0 (DE-588)1261102215 |0 (DE-627)1834152100 |4 aut | |
| 700 | 1 | |a Bratland, Eirik |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lin, Kuang |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gardner, Eugene J. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Zhao, Yajie |e VerfasserIn |4 aut | |
| 700 | 1 | |a Jia, Raina Y. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Terao, Chikashi |e VerfasserIn |4 aut | |
| 700 | 1 | |a Riggan, Marjorie J. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Brenner, Hermann |e VerfasserIn |0 (DE-588)1020516445 |0 (DE-627)691247005 |0 (DE-576)360642136 |4 aut | |
| 700 | 1 | |a Canzian, Federico |e VerfasserIn |0 (DE-588)118890468X |0 (DE-627)1667771264 |4 aut | |
| 700 | 1 | |a Chang-Claude, Jenny |e VerfasserIn |0 (DE-588)1049304993 |0 (DE-627)781626188 |0 (DE-576)168344475 |4 aut | |
| 700 | 1 | |a Hamann, Ute |e VerfasserIn |0 (DE-588)1074024230 |0 (DE-627)830169970 |0 (DE-576)161285090 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Nature genetics |d London : Macmillan Publishers Limited, part of Springer Nature, 1992 |g 56(2024), 8 vom: Aug., Seite 1763-1764 |h Online-Ressource |w (DE-627)303393734 |w (DE-600)1494946-5 |w (DE-576)080887198 |x 1546-1718 |7 nnas |a Publisher correction: understanding the genetic complexity of puberty timing across the allele frequency spectrum |
| 773 | 1 | 8 | |g volume:56 |g year:2024 |g number:8 |g month:08 |g pages:1763-1764 |g extent:2 |a Publisher correction: understanding the genetic complexity of puberty timing across the allele frequency spectrum |
| 787 | 0 | 8 | |i Errata zu |a Kentistou, Katherine A. |t Understanding the genetic complexity of puberty timing across the allele frequency spectrum |d 2024 |w (DE-627)1924226030 |
| 856 | 4 | 0 | |u https://doi.org/10.1038/s41588-024-01857-w |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://www.nature.com/articles/s41588-024-01857-w |x Verlag |z kostenfrei |3 Volltext |
| 883 | |8 1\p |a cgwrk |d 20250505 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | ||
| 883 | |8 2\p |a cgwrk |d 20251001 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | ||
| 883 | |8 3\p |a cgwrk |d 20250505 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | ||
| 951 | |a AR | ||
| 992 | |a 20250502 | ||
| 993 | |a Article | ||
| 994 | |a 2024 | ||
| 998 | |g 1074024230 |a Hamann, Ute |m 1074024230:Hamann, Ute |d 50000 |e 50000PH1074024230 |k 0/50000/ |p 99 | ||
| 998 | |g 1049304993 |a Chang-Claude, Jenny |m 1049304993:Chang-Claude, Jenny |d 50000 |e 50000PC1049304993 |k 0/50000/ |p 73 | ||
| 998 | |g 118890468X |a Canzian, Federico |m 118890468X:Canzian, Federico |d 140000 |e 140000PC118890468X |k 0/140000/ |p 72 | ||
| 998 | |g 1020516445 |a Brenner, Hermann |m 1020516445:Brenner, Hermann |d 850000 |d 851600 |d 50000 |e 850000PB1020516445 |e 851600PB1020516445 |e 50000PB1020516445 |k 0/850000/ |k 1/850000/851600/ |k 0/50000/ |p 70 | ||
| 999 | |a KXP-PPN1924278073 |e 4718922119 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"language":["eng"],"person":[{"display":"Kentistou, Katherine A.","family":"Kentistou","role":"aut","given":"Katherine A."},{"display":"Kaisinger, Lena R.","family":"Kaisinger","given":"Lena R.","role":"aut"},{"role":"aut","given":"Stasa","family":"Stankovic","display":"Stankovic, Stasa"},{"display":"Vaudel, Marc","family":"Vaudel","given":"Marc","role":"aut"},{"role":"aut","given":"Edson","family":"Mendes de Oliveira","display":"Mendes de Oliveira, Edson"},{"display":"Messina, Andrea","family":"Messina","role":"aut","given":"Andrea"},{"family":"Walters","display":"Walters, Robin","role":"aut","given":"Robin"},{"given":"Xiaoxi","role":"aut","display":"Liu, Xiaoxi","family":"Liu"},{"given":"Alexander S.","role":"aut","family":"Busch","display":"Busch, Alexander S."},{"role":"aut","given":"Hannes","display":"Helgason, Hannes","family":"Helgason"},{"role":"aut","given":"Deborah J.","display":"Thompson, Deborah J.","family":"Thompson"},{"display":"Santoni, Federico","family":"Santoni","given":"Federico","role":"aut"},{"display":"Petricek, Konstantin M.","family":"Petricek","given":"Konstantin M.","role":"aut"},{"given":"Yassine","role":"aut","display":"Zouaghi, Yassine","family":"Zouaghi"},{"role":"aut","given":"Isabel","display":"Huang-Doran, Isabel","family":"Huang-Doran"},{"role":"aut","given":"Daniel","display":"Guðbjartsson, Daniel","family":"Guðbjartsson"},{"given":"Eirik","role":"aut","display":"Bratland, Eirik","family":"Bratland"},{"given":"Kuang","role":"aut","display":"Lin, Kuang","family":"Lin"},{"role":"aut","given":"Eugene J.","family":"Gardner","display":"Gardner, Eugene J."},{"given":"Yajie","role":"aut","family":"Zhao","display":"Zhao, Yajie"},{"family":"Jia","display":"Jia, Raina Y.","given":"Raina Y.","role":"aut"},{"display":"Terao, Chikashi","family":"Terao","role":"aut","given":"Chikashi"},{"display":"Riggan, Marjorie J.","family":"Riggan","given":"Marjorie J.","role":"aut"},{"given":"Hermann","role":"aut","family":"Brenner","display":"Brenner, Hermann"},{"family":"Canzian","display":"Canzian, Federico","given":"Federico","role":"aut"},{"role":"aut","given":"Jenny","family":"Chang-Claude","display":"Chang-Claude, Jenny"},{"given":"Ute","role":"aut","family":"Hamann","display":"Hamann, Ute"}],"recId":"1924278073","relHost":[{"id":{"zdb":["1494946-5"],"issn":["1546-1718"],"eki":["303393734"]},"physDesc":[{"extent":"Online-Ressource"}],"recId":"303393734","type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Publisher correction: understanding the genetic complexity of puberty timing across the allele frequency spectrumNature genetics","title":[{"title_sort":"Nature genetics","title":"Nature genetics"}],"note":["Gesehen am 02.03.05"],"pubHistory":["1.1992 -"],"origin":[{"publisherPlace":"London ; New York, NY","dateIssuedDisp":"1992-","publisher":"Macmillan Publishers Limited, part of Springer Nature ; Nature America","dateIssuedKey":"1992"}],"titleAlt":[{"title":"Genetics"}],"part":{"extent":"2","volume":"56","year":"2024","pages":"1763-1764","issue":"8","text":"56(2024), 8 vom: Aug., Seite 1763-1764"},"language":["eng"]}],"physDesc":[{"extent":"2 S."}],"name":{"displayForm":["Katherine A. Kentistou, Lena R. Kaisinger, Stasa Stankovic, Marc Vaudel, Edson Mendes de Oliveira, Andrea Messina, Robin G. Walters, Xiaoxi Liu, Alexander S. Busch, Hannes Helgason, Deborah J. Thompson, Federico Santoni, Konstantin M. Petricek, Yassine Zouaghi, Isabel Huang-Doran, Daniel F. Gudbjartsson, Eirik Bratland, Kuang Lin, Eugene J. Gardner, Yajie Zhao, Raina Y. Jia, Chikashi Terao, Marjorie J. Riggan, Hermann Brenner, Frederico Canzian, Jenny Chang-Claude, Ute Haman [und 193 weitere] ; the Lifelines Cohort Study, the Danish Blood Donor Study, the Ovarian Cancer Association Consortium, the Breast Cancer Association Consortium, the Biobank Japan Project, the China Kadoorie Biobank Collaborative Group"]},"id":{"eki":["1924278073"],"doi":["10.1038/s41588-024-01857-w"]},"title":[{"title_sort":"Publisher correction: understanding the genetic complexity of puberty timing across the allele frequency spectrum","title":"Publisher correction: understanding the genetic complexity of puberty timing across the allele frequency spectrum"}],"origin":[{"dateIssuedKey":"2024","dateIssuedDisp":"August 2024"}],"note":["The Lifelines Cohort Study ; The Danish Blood Donor Study ; The Ovarian Cancer Association Consortium: Jenny Chang-Claude, Ute Hamann ; The Breast Cancer Association Consortium: Hermann Brenner, Frederico Canzian, Jenny Chang-Claude, Ute Hamann ; The Biobank Japan Project, The China Kadoorie Biobank Collaborative Group","Online verfügbar: 09. Juli 2024","Gesehen am 02.05.2025"],"type":{"bibl":"article-journal","media":"Online-Ressource"}} | ||
| SRT | |a KENTISTOUKPUBLISHERC2024 | ||