Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
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Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanisms are poorly understood. We report a dual strategy in ∼70,000 women to identify common and low-frequency protein-coding variation associated with age at natural menopause (ANM). We identified 44 regions with common variants, including two regions harboring additional rare missense alleles of large effect. We found enrichment of signals in or near genes involved in delayed puberty, highlighting the first molecular links between the onset and end of reproductive lifespan. Pathway analyses identified major association with DNA damage response (DDR) genes, including the first common coding variant in BRCA1 associated with any complex trait. Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms.
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Genome maintenance was the top pathway associated with age of natural menopause.
“genome maintenance was also the top pathway found associated with the age of natural menopause112”
From The central role of DNA damage in the ageing process (2021) · cites this paper as [112]
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PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J., Fry, B., Maller, J., & Daly, M. (2005) · Bioinform. · doi:10.1093/bioinformatics/bth457 · Cited by 15,086 · see citing works
GCTA: a tool for genome-wide complex trait analysis
Yang, J., Lee, S. H., Goddard, M. E., & Visscher, P. M. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.011 · Cited by 8,279 · see citing works
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711 · see citing works
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) · Nature · doi:10.1038/nature13595 · Cited by 7,577 · see citing works
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205 · see citing works
Self-citationAn atlas of genetic correlations across human diseases and traits
ReproGen Consortium, Bulik-Sullivan, B., Psychiatric Genomics Consortium, Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Finucane, H. K., Anttila, V., Gusev, A., Day, F. R., Loh, P.-R., Duncan, L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3406 · Cited by 4,255 · see citing works
Self-citationSuper-enhancers in the control of cell identity and disease
Hnisz, D., Abraham, B. J., Lee, T. I., Lau, A., Saint-André, V., Sigova, A. A., Hoke, H. A., & Young, R. A. (2013) · Cell · doi:10.1016/j.cell.2013.09.053 · Cited by 3,662 · see citing works
(2013) · The Lancet · doi:10.1016/s0140-6736(12)62129-1 · Cited by 3,010 · see citing works
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
MAGIC, Speliotes, E. K., on behalf of Procardis Consortium, Willer, C. J., Berndt, S. I., Monda, K. L., Thorleifsson, G., Jackson, A. U., Allen, H. L., Lindgren, C. M., et al. (2010) · Nature Genetics · doi:10.1038/ng.686 · Cited by 2,912 · see citing works
Self-citationPremature ageing in mice expressing defective mitochondrial DNA polymerase
Trifunovic, A., Wredenberg, A., Falkenberg, M., Spelbrink, J. N., Rovio, A. T., Bruder, C. E., Bohlooly-Y, M., Gidlöf, S., Oldfors, A., Wibom, R., et al. (2004) · Nature · doi:10.1038/nature02517 · Cited by 2,734 · see citing works
Partitioning heritability by functional annotation using genome-wide association summary statistics
ReproGen Consortium, Finucane, H. K., Schizophrenia Working Group of the Psychiatric Genomics Consortium, The RACI Consortium, Bulik-Sullivan, B., Gusev, A., Trynka, G., Reshef, Y., Loh, P.-R., Anttila, V., et al. (2015) · Nature Genetics · doi:10.1038/ng.3404 · Cited by 2,604 · see citing works
Self-citationAn atlas of active enhancers across human cell types and tissues
The FANTOM Consortium, Andersson, R., Gebhard, C., Miguel-Escalada, I., Hoof, I., Bornholdt, J., Boyd, M., Chen, Y., Zhao, X., Schmidl, C., et al. (2014) · Nature · doi:10.1038/nature12787 · Cited by 2,550 · see citing works
Self-citationGenetic variants in novel pathways influence blood pressure and cardiovascular disease risk
The International Consortium for Blood Pressure Genome-Wide Association Studies (2011) · Nature · doi:10.1038/nature10405 · Cited by 2,033 · see citing works
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G. R. (2012) · Nature Genetics · doi:10.1038/ng.2354 · Cited by 1,737 · see citing works
Self-citationManson, J. E., Chlebowski, R. T., Stefanick, M. L., Aragaki, A. K., Rossouw, J. E., Prentice, R. L., Anderson, G., Howard, B. V., Thomson, C. A., LaCroix, A. Z., et al. (2013) · JAMA · doi:10.1001/jama.2013.278040 · Cited by 1,650 · see citing works
Self-citationPlaying the End Game: DNA Double-Strand Break Repair Pathway Choice
Chapman, J. R., Taylor, M. R. G., & Boulton, S. J. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.07.029 · Cited by 1,629 · see citing works
Self-citationThe variability of female reproductive ageing
te Velde, E. R. (2002) · Human Reproduction Update · doi:10.1093/humupd/8.2.141 · Cited by 1,214 · see citing works
† (2012) · The Lancet Oncology · doi:10.1016/s1470-2045(12)70425-4 · Cited by 1,162 · see citing works
A high-resolution map of human evolutionary constraint using 29 mammals
Broad Institute Sequencing Platform and Whole Genome Assembly Team, Lindblad-Toh, K., Baylor College of Medicine Human Genome Sequencing Center Sequencing Team, Genome Institute at Washington University, Garber, M., Zuk, O., Lin, M. F., Parker, B. J., Washietl, S., Kheradpour, P., et al. (2011) · Nature · doi:10.1038/nature10530 · Cited by 1,108 · see citing works
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Michailidou, K., kConFab Investigators, Australian Ovarian Cancer Study Group, The GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Hall, P. N., González‐Neira, A., Ghoussaini, M., Dennis, J., Milne, R. L., Schmidt, M. K., et al. (2013) · Nature Genetics · doi:10.1038/ng.2563 · Cited by 1,066 · see citing works
Self-citationRare Variants Create Synthetic Genome-Wide Associations
Dickson, S. P., Wang, K., Krantz, I., Hakonarson, H., & Goldstein, D. B. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000294 · Cited by 857 · see citing works
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Study, A. O. C., Perry, J. R. B., The GENICA Network, kConFab, Study, T. L. C., The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Day, F., Elks, C. E., Sulem, P., et al. (2014) · Nature · doi:10.1038/nature13545 · Cited by 604 · see citing works
Self-citationChromatin marks identify critical cell types for fine mapping complex trait variants
Trynka, G., Sandor, C., Han, B., Xu, H., Stranger, B. E., Liu, X. S., & Raychaudhuri, S. (2013) · Nature Genetics · doi:10.1038/ng.2504 · Cited by 580 · see citing works
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array
Eeles, R. A., Bioresource, T. A. P. C., Collaborators, T. U. P. (. T. F. C. A. T. S., Olama, A. A. A., Benlloch, S., Saunders, E. J., Leongamornlert, D. A., Tymrakiewicz, M., Ghoussaini, M., Luccarini, C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2560 · Cited by 542 · see citing works
Self-citationImpairment of BRCA1-Related DNA Double-Strand Break Repair Leads to Ovarian Aging in Mice and Humans
Titus, S., Li, F., Stobezki, R., Akula, K., Ünsal, E., Jeong, K., Dickler, M. N., Robson, M. E., MOY, F. H., Goswami, S., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3004925 · Cited by 523 · see citing works
Integrative annotation of chromatin elements from ENCODE data
Hoffman, M. M., Ernst, J., Wilder, S. P., Kundaje, A. B., Harris, R. S., Libbrecht, M., Giardine, B. M., Ellenbogen, P. M., Bilmes, J. A., Birney, E., et al. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks1284 · Cited by 521 · see citing works
BRCA1 inhibition of estrogen receptor signaling in transfected cells.
Fan, S., Wang, J.-A., Yuan, R., Ma, Y., Meng, Q., Erdos, M., Pestell, R., Yuan, F., Auborn, K., Goldberg, I., et al. (1999) · Science · doi:10.1126/science.284.5418.1354 · Cited by 521 · see citing works
Segrè, A. V., DIAGRAM Consortium, MAGIC investigators, Groop, L., Mootha, V. K., Daly, M. J., & Altshuler, D. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001058 · Cited by 463 · see citing works
Raychaudhuri, S., Plenge, R. M., Rossin, E. J., Ng, A., Purcell, S., Sklar, P. B., Scolnick, E. M., Xavier, R. J., Altshuler, D., & Daly, M. J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000534 · Cited by 422 · see citing works
Vimaleswaran, K. S., Cavadino, A., Berry, D. J., Jorde, R., Dieffenbach, A. K., Lu, C., Alves, A. C., Heerspink, H. J. L., Tikkanen, E., Eriksson, J., et al. (2014) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(14)70113-5 · Cited by 370 · see citing works
Self-citationStolk, L., Perry, J. R. B., Chasman, D. I., He, C., Mangino, M., Sulem, P., Barbalić, M., Broer, L., Byrne, E. M., Ernst, F. D., et al. (2012) · Nature Genetics · doi:10.1038/ng.1051 · Cited by 368 · see citing works
Self-citationOktay, K., Kim, J. Y., Barad, D. H., & Babayev, S. N. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2009.24.2057 · Cited by 356 · see citing works
Cancer risks among BRCA1 and BRCA2 mutation carriers
Levy‐Lahad, E., & Friedman, E. (2007) · British Journal of Cancer · doi:10.1038/sj.bjc.6603535 · Cited by 327 · see citing works
Weischer, M., Bojesen, S. E., Ellervik, C., Tybjærg‐Hansen, A., & Nordestgaard, B. G. (2008) · Journal of Clinical Oncology · doi:10.1200/jco.2007.12.5922 · Cited by 307 · see citing works
Self-citationRance, N. E. (2009) · Peptides · doi:10.1016/j.peptides.2008.05.016 · Cited by 237 · see citing works
Hu, Y., Scully, R., Sobhian, B., Xie, A., Shestakova, E. A., & Livingston, D. M. (2011) · Genes & Development · doi:10.1101/gad.2011011 · Cited by 232 · see citing works
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability
AlAsiri, S., Basit, S., Wood, M. A., et al. (2014) · Journal of Clinical Investigation · doi:10.1172/jci78473 · Cited by 225 · see citing works
MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability
Wood, M. A., Gürbüz, F., Yatsenko, S. A., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.11.002 · Cited by 219 · see citing works
Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations
Fogli, A., Rodriguez, D., Eymard-Pierre, É., Bouhour, F., Labauge, P. M., Meaney, B. F., Zeesman, S., Kaneski, C. R., Schiffmann, R., & Boespflug‐Tanguy, O. (2003) · The American Journal of Human Genetics · doi:10.1086/375404 · Cited by 197 · see citing works
Approach to the patient with hypogonadotropic hypogonadism
Silveira, L. F. G., & Latronico, A. C. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-3550 · Cited by 161 · see citing works
GRASP v2.0: an update on the Genome-Wide Repository of Associations between SNPs and phenotypes
Eicher, J. D., Landowski, C., Stackhouse, B., Sloan, A. A., Chen, W., Jensen, N., Lien, J.-P., Leslie, R., & Johnson, A. D. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku1202 · Cited by 148 · see citing works
Self-citationTesting ovarian reserve to predict age at menopause
Lambalk, C. B., van Disseldorp, J., de Koning, C. H., & Broekmans, F. J. (2009) · Maturitas · doi:10.1016/j.maturitas.2009.06.007 · Cited by 137 · see citing works
Genetic investigation of four meiotic genes in women with premature ovarian failure
Mandon‐Pepin, B., Touraine, P. A., Kuttenn, F., et al. (2008) · European Journal of Endocrinology · doi:10.1530/eje-07-0400 · Cited by 125 · see citing works
Morris, D. H., Jones, M. E., Schoemaker, M. J., McFadden, E. C., Ashworth, A., & Swerdlow, A. J. (2012) · American Journal of Epidemiology · doi:10.1093/aje/kwr447 · Cited by 115 · see citing works
Self-citationGaytán, F., García-Galiano, D., Dorfman, M. D., Manfredi-Lozano, M., Castellano, J. M., Dissen, G. A., Ojeda, S. R., & Tena‐Sempere, M. (2014) · Endocrinology · doi:10.1210/en.2014-1110 · Cited by 100 · see citing works
Šimandlová, J., Zagelbaum, J., Payne, M., Chu, W. K., Shevelev, I., Hanada, K., Chatterjee, S., Reid, D. A., Liu, Y., Janščák, P., et al. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.484493 · Cited by 99 · see citing works
Self-citationLinder, B., Plöttner, O., Kroiß, M., Hartmann, E., Laggerbauer, B., Meister, G., Keidel, E., & Fischer, U. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn219 · Cited by 86 · see citing works
Genetics of reproductive lifespan
Hartge, P. A. (2009) · Nature Genetics · doi:10.1038/ng0609-637 · Cited by 76 · see citing works
DNA mismatch repair gene MSH6 implicated in determining age at natural menopause
Perry, J. R. B., Hsu, Y., Chasman, D. I., Johnson, A. D., Elks, C. E., Albrecht, E., Andrulis, I. L., Beesley, J., Berenson, G. S., Bergmann, S., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt620 · Cited by 65 · see citing works
Self-citationExpression of neurokinin B/NK3 receptor and kisspeptin/KISS1 receptor in human granulosa cells
Garcia-Ortega, J., Pinto, F. M., Sánchez, M. F., Prados, N., Cejudo-Román, A., Almeida, T. A., Hernández, M., Romero, M., Tena‐Sempere, M., & Candenas, L. (2014) · Human Reproduction · doi:10.1093/humrep/deu247 · Cited by 62 · see citing works
Collins, I. M., Milne, R. L., McLachlan, S. A., Friedlander, M. L., Hickey, M., Weideman, P. C., Birch, K., Hopper, J. L., & Phillips, K. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2013.49.3007 · Cited by 52 · see citing works
Self-citationSynthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs
Zhang, X., Gierman, H. J., Levy, D. A., Plump, A. S., Dobrin, R., Göring, H. H. H., Curran, J. E., Johnson, M. P., Blangero, J., Kim, S. K., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-532 · Cited by 47 · see citing works
Self-citationGuler, G. D., Liu, H., Vaithiyalingam, S., Arnett, D. R., Kremmer, E., Chazin, W., & Fanning, E. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.324582 · Cited by 47 · see citing works
Multiple Regulation of Rad51-Mediated Homologous Recombination by Fission Yeast Fbh1
Tsutsui, Y., Kurokawa, Y., Ito, K., Siddique, M. S. P., Kawano, Y., Yamao, F., & Iwasaki, H. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004542 · Cited by 44 · see citing works
Lessons from postgenome‐wide association studies: functional analysis of cancer predisposition loci
Monteiro, Á. N. A., & Freedman, M. L. (2013) · Journal of Internal Medicine · doi:10.1111/joim.12085 · Cited by 24 · see citing works
Zhou, J. J., Yip, W.-K., Cho, M. H., et al. (2014) · BMC Proceedings · doi:10.1186/1753-6561-8-s1-s33 · Cited by 9 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- [7]Oktem O Oktay K The ovary: anatomy and function throughout human life Ann N Y Acad Sci 2008 1127 1 9 18443323
- [23]Ghoussaini M Pharoah PD Easton DF Inherited genetic susceptibility to breast cancer: the beginning of the end or the end of the beginning? Am J Pathol 2013 183 1038 51 23973388
Cited by
Sorted by citations
El Khoudary, S. R., Aggarwal, B., Beckie, T. M., Hodis, H. N., Johnson, A. E., Langer, R. D., Limacher, M. C., Manson, J. E., Stefanick, M. L., Allison, M. A., et al. (2020) · Circulation · doi:10.1161/cir.0000000000000912 · Cited by 1,219 · see citing works
Self-citationThe central role of DNA damage in the ageing process
Schumacher, B., Pothof, J., Vijg, J., & Hoeijmakers, J. H. J. (2021) · Nature · doi:10.1038/s41586-021-03307-7 · Cited by 907 · see citing works
A molecular census of arcuate hypothalamus and median eminence cell types
Campbell, J. N., Macosko, E. Z., Fenselau, H., Pers, T. H., Lyubetskaya, A., Tenen, D., Goldman, M., Verstegen, A. M. J., Resch, J. M., McCarroll, S. A., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4495 · Cited by 817 · see citing works
Gazal, S., Finucane, H. K., Furlotte, N. A., Loh, P.-R., Palamara, P. F., Liu, X., Schoech, A., Bulik-Sullivan, B., Neale, B. M., Gusev, A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3954 · Cited by 525 · see citing works
Self-citationLarge-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior
Ganna, A., Verweij, K. J. H., Nivard, M. G., Maier, R., Wedow, R., Busch, A. S., Abdellaoui, A., Guo, S., Sathirapongsasuti, J. F., 23andMe Research Team, et al. (2019) · Science · doi:10.1126/science.aat7693 · Cited by 406 · see citing works
Signatures of negative selection in the genetic architecture of human complex traits
Zeng, J., de Vlaming, R., Wu, Y., Robinson, M. R., Lloyd-Jones, L. R., Yengo, L., Yap, C. X., Xue, A., Sidorenko, J., McRae, A. F., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0101-4 · Cited by 391 · see citing works
Self-citationDeconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification
Dapas, M., & Dunaif, A. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac001 · Cited by 300 · see citing works
Genetic correlates of social stratification in Great Britain
Abdellaoui, A., Hugh-Jones, D., Yengo, L., Kemper, K. E., Nivard, M. G., Veul, L., Holtz, Y., Zietsch, B. P., Frayling, T. M., Wray, N. R., et al. (2019) · Nature Human Behaviour · doi:10.1038/s41562-019-0757-5 · Cited by 261 · see citing works
SumHer better estimates the SNP heritability of complex traits from summary statistics
Speed, D., & Balding, D. J. (2019) · Nature Genetics · doi:10.1038/s41588-018-0279-5 · Cited by 254 · see citing works
An atlas of gene regulatory elements in adult mouse cerebrum
Li, Y. E., Preissl, S., Hou, X., Zhang, Z., Zhang, K., Qiu, Y., Poirion, O. B., Li, B., Chiou, J., Liu, H., et al. (2021) · Nature · doi:10.1038/s41586-021-03604-1 · Cited by 185 · see citing works
Imprint of assortative mating on the human genome
Yengo, L., Robinson, M. R., Keller, M. C., Kemper, K. E., Yang, Y., Trzaskowski, M., Gratten, J., Turley, P., Cesarini, D., Benjamin, D. J., et al. (2018) · Nature Human Behaviour · doi:10.1038/s41562-018-0476-3 · Cited by 148 · see citing works
Self-citationMetabolic characterization of menopause: cross-sectional and longitudinal evidence
Wang, Q., Ferreira, D. L. S., Nelson, S. M., Sattar, N., Ala-Korpela, M., & Lawlor, D. A. (2018) · BMC Medicine · doi:10.1186/s12916-018-1008-8 · Cited by 134 · see citing works
Yarmolinsky, J., Bull, C. J., Vincent, E. E., Robinson, J., Walther, A., Smith, G. D., Lewis, S. J., Relton, C. L., & Martin, R. M. (2020) · JAMA · doi:10.1001/jama.2020.0150 · Cited by 124 · see citing works
Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits
Freund, M. K., Burch, K. S., Shi, H., Mancuso, N., Kichaev, G., Garske, K. M., Pan, D. Z., Miao, Z., Mohlke, K. L., Laakso, M., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.08.017 · Cited by 102 · see citing works
Ruth, K. S., Beaumont, R. N., Tyrrell, J., Jones, S. E., Tuke, M. A., Yaghootkar, H., Wood, A. R., Freathy, R. M., Weedon, M. N., Frayling, T. M., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dev318 · Cited by 70 · see citing works
Self-citationGenetic Regulation of Physiological Reproductive Lifespan and Female Fertility
McGrath, I. M., Mortlock, S., & Montgomery, G. W. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22052556 · Cited by 45 · see citing works
An Atlas of Gene Regulatory Elements in Adult Mouse Cerebrum
Li, Y. E., Preissl, S., Hou, X., Zhang, Z., Zhang, K., Fang, R., Qiu, Y., Poirion, O., Li, B., Liu, H., et al. (2020) · doi:10.1101/2020.05.10.087585 · Cited by 187 · see citing works
Cell-Free Fat Extract Improves Ovarian Function and Fertility in Mice With Advanced Age
Liu, M., Li, W., Zhou, X., Zhou, M., Zhang, W., Liu, Q., Zhang, A., & Xu, B. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.912648 · Cited by 18 · see citing works
- Authors
- The PRACTICAL Consortium, Day, F. R., kConFab Investigators, AOCS Investigators, Scotland, G., EPIC-InterAct Consortium, Study, L. C., Ruth, K. S., Thompson, D. J., Lunetta, K. L., Pervjakova, N., Chasman, D. I., Stolk, L., Finucane, H. K., Sulem, P., Bulik-Sullivan, B., Esko, T., Johnson, A. D., Elks, C. E., Franceschini, N., He, C., Altmaier, E., Brody, J. A., Franke, L. L., Huffman, J. E., Keller, M. F., McArdle, P. F., Nutile, T., Porcu, E., Robino, A., Rose, L. M., Schick, U. M., Smith, J. A., Teumer, A., Traglia, M., Vuckovic, D., Yao, J., Zhao, W., Albrecht, E., Amin, N., Corre, T., Hottenga, J.-J., Mangino, M., Smith, A. V., Tanaka, T., Abecasis, G. R., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Arndt, V., Arnold, A. M., Barbieri, C., Beckmann, M. W., Beeghly-Fadiel, A., Benitez, J., Bernstein, L., Bielinski, S. J., Blomqvist, C., Boerwinkle, E., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Borresen-Dale, A.-L., Boutin, T. S., Brauch, H., Brenner, H., Brüning, T., Burwinkel, B., Campbell, A., Campbell, H., Chanock, S. J., Chapman, J. R., Chen, Y.-D. I., Chenevix-Trench, G., Couch, F. J., Coviello, A. D., Cox, A., Czene, K., Darabi, H., De Vivo, I., Demerath, E. W., Dennis, J., Devilee, P., Dörk, T., dos-Santos-Silva, I., Dunning, A. M., Eicher, J. D., Fasching, P. A., Faul, J. D., Figueroa, J., Flesch-Janys, D., Gandin, I., Garcia, M. E., García-Closas, M., Giles, G. G., Girotto, G. G., Goldberg, M. S., González-Neira, A., Goodarzi, M. O., Grove, M. L., Gudbjartsson, D. F., Guénel, P., Guo, X., Haiman, C. A., Hall, P., Hamann, U., Henderson, B. E., Hocking, L. J., Hofman, A., Homuth, G., Hooning, M. J., Hopper, J. L., Hu, F. B., Huang, J., Humphreys, K., Hunter, D. J., Jakubowska, A., Jones, S. E., Kabisch, M., Karasik, D., Knight, J. A., Kolcic, I., Kooperberg, C., Kosma, V.-M., Kriebel, J., Kristensen, V., Lambrechts, D., Langenberg, C., Li, J., Li, X., Lindström, S., Liu, Y., Luan, J., Lubinski, J., Mägi, R., Mannermaa, A., Manz, J., Margolin, S., Marten, J., Martin, N. G., Masciullo, C., Meindl, A., Michailidou, K., Mihailov, E., Milani, L., Milne, R. L., Müller-Nurasyid, M., Nalls, M., Neale, B. M., Nevanlinna, H., Neven, P., Newman, A. B., Nordestgaard, B. G., Olson, J. E., Padmanabhan, S., Peterlongo, P., Peters, U., Petersmann, A., Peto, J., Pharoah, P. D. P., Pirastu, N. N., Pirie, A., Pistis, G., Polasek, O., Porteous, D., Psaty, B. M., Pylkäs, K., Radice, P., Raffel, L. J., Rivadeneira, F., Rudan, I., Rudolph, A., Ruggiero, D., Sala, C. F., Sanna, S., Sawyer, E. J., Schlessinger, D., Schmidt, M. K., Schmidt, F., Schmutzler, R. K., Schoemaker, M. J., Scott, R. A., Seynaeve, C. M., Simard, J., Sorice, R., Southey, M. C., Stöckl, D., Strauch, K., Swerdlow, A., Taylor, K. D., Thorsteinsdottir, U., Toland, A. E., Tomlinson, I., Truong, T., Tryggvadottir, L., Turner, S. T., Vozzi, D., Wang, Q., Wellons, M., Willemsen, G., Wilson, J. F., Winqvist, R., Wolffenbuttel, B. B. H. R., Wright, A. F., Yannoukakos, D., Zemunik, T., Zheng, W., Zygmunt, M., Bergmann, S., Boomsma, D. I., Buring, J. E., Ferrucci, L., Montgomery, G. W., Gudnason, V., Spector, T. D., van Duijn, C. M., Alizadeh, B. Z., Ciullo, M., Crisponi, L., Easton, D. F., Gasparini, P. P., Gieger, C., Harris, T. B., Hayward, C., Kardia, S. L. R., Kraft, P., McKnight, B., Metspalu, A., Morrison, A. C., Reiner, A. P., Ridker, P. M., Rotter, J. I., Toniolo, D., Uitterlinden, A. G., Ulivi, S., Völzke, H., Wareham, N. J., Weir, D. R., Yerges-Armstrong, L. M., Price, A. L., Stefansson, K., Visser, J. A., Ong, K. K., Chang-Claude, J., Murabito, J. M., Perry, J. R. B., & Murray, A.
- Affiliations
- University of Cambridge (GB)
- The University of Melbourne (AU)
- Boston University (US)
- University of Tartu (EE)
- Brigham and Women's Hospital (US)
- deCODE Genetics (Iceland) (IS)
- Broad Institute (US)
- University of Washington (US)
- University of North Carolina at Chapel Hill (US)
- Merck & Co., Inc., Rahway, NJ, USA (United States) (US)
- University of Maryland, Baltimore (US)
- University Medical Center Groningen (NL)
- Fred Hutch Cancer Center (US)
- University of Sassari (IT)
- Universitätsmedizin Greifswald (DE)
- University of Trieste (IT)
- University of California, Los Angeles (US)
- University of Michigan (US)
- Helmholtz Munich (DE)
- SIB Swiss Institute of Bioinformatics (CH)
- King's College London (GB)
- University of Iceland (IS)
- Mount Sinai Hospital (CA)
- German Cancer Research Center (DE)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- City Of Hope National Medical Center (US)
- Mayo Clinic (US)
- University of Helsinki (FI)
- Baylor College of Medicine (US)
- University of Copenhagen (DK)
- Oslo University Hospital (NO)
- Medizinische Hochschule Hannover (DE)
- Institute for Prevention and Occupational Medicine (DE)
- Centre for Human Genetics (GB)
- QIMR Berghofer Medical Research Institute (AU)
- University of Minnesota (US)
- Leiden University Medical Center (NL)
- National Institutes of Health (US)
- Institute of Cancer Research (GB)
- Cedars-Sinai Medical Center (US)
- University of Southern California (US)
- Université Paris-Sud (FR)
- Erasmus MC (NL)
- Shanghai Jiao Tong University (CN)
- University of Exeter (GB)
- Harvard University (US)
- University of Eastern Finland (FI)
- Karolinska Institutet (SE)
- Institute of Genetics and Cancer (GB)
- IRCCS Ospedale San Raffaele (IT)
- Universitair Ziekenhuis Leuven (BE)
- University of Pittsburgh (US)
- London School of Hygiene & Tropical Medicine (GB)
- Group Health Cooperative (US)
- NordLab (FI)
- National Research Council (IT)
- Guy's Hospital (GB)
- National Institute on Aging (US)
- The Netherlands Cancer Institute (NL)
- Centre hospitalier universitaire de Québec (CA)
- IRCCS Materno Infantile Burlo Garofolo (IT)
- National Centre of Scientific Research "Demokritos" (GR)
- Vrije Universiteit Amsterdam (NL)
- Corresponding author
- Perry, John R B
- ORCID
- Day, Felix R
- Ruth, Katherine S
- Thompson, Deborah J
- Lunetta, Kathryn L
- Chasman, Daniel I
- Finucane, Hilary K
- Sulem, Patrick
- Bulik-Sullivan, Brendan
- Esko, Tõnu
- Johnson, Andrew D
- Franceschini, Nora
- He, Chunyan
- Brody, Jennifer A
- Franke, Lude L
- Huffman, Jennifer E
- Keller, Margaux F
- McArdle, Patrick F
- Nutile, Teresa
- Robino, Antonietta
- Rose, Lynda M
- Smith, Jennifer A
- Teumer, Alexander
- Traglia, Michela
- Vuckovic, Dragana
- Yao, Jie
- Zhao, Wei
- Amin, Najaf
- Corre, Tanguy
- Hottenga, Jouke-Jan
- Mangino, Massimo
- Smith, Albert V
- Tanaka, Toshiko
- Abecasis, Gonçalo R
- Andrulis, Irene L
- Antoniou, Antonis C
- Arndt, Volker
- Arnold, Alice M
- Barbieri, Caterina
- Beckmann, Matthias W
- Beeghly-Fadiel, Alicia
- Benitez, Javier
- Bernstein, Leslie
- Bielinski, Suzette J
- Blomqvist, Carl
- Boerwinkle, Eric
- Bogdanova, Natalia V
- Bojesen, Stig E
- Bolla, Manjeet K
- Boutin, Thibaud S
- Brauch, Hiltrud
- Brenner, Hermann
- Brüning, Thomas
- Burwinkel, Barbara
- Campbell, Archie
- Chanock, Stephen J
- Chapman, J Ross
- Chen, Yii-Der Ida
- Couch, Fergus J
- Coviello, Andrea D
- Cox, Angela
- Czene, Kamila
- Demerath, Ellen W
- Dennis, Joe
- Devilee, Peter
- Dörk, Thilo
- Dunning, Alison M
- Fasching, Peter A
- Faul, Jessica D
- Figueroa, Jonine
- Gandin, Ilaria
- Giles, Graham G
- Girotto, Giorgia G
- Goldberg, Mark S
- Goodarzi, Mark O
- Grove, Megan L
- Gudbjartsson, Daniel F
- Guénel, Pascal
- Guo, Xiuqing
- Hall, Per
- Hamann, Ute
- Hocking, Lynne J
- Homuth, Georg
- Hooning, Maartje J
- Hopper, John L
- Hu, Frank B
- Huang, Jinyan
- Humphreys, Keith
- Jakubowska, Anna
- Jones, Samuel E
- Karasik, David
- Knight, Julia A
- Kooperberg, Charles
- Kosma, Veli-Matti
- Kriebel, Jennifer
- Kristensen, Vessela
- Lambrechts, Diether
- Langenberg, Claudia
- Li, Jingmei
- Li, Xin
- Lindström, Sara
- Luan, Jian'an
- Mägi, Reedik
- Margolin, Sara
- Marten, Jonathan
- Martin, Nicholas G
- Meindl, Alfons
- Michailidou, Kyriaki
- Milani, Lili
- Milne, Roger L
- Neale, Benjamin M
- Nevanlinna, Heli
- Neven, Patrick
- Newman, Anne B
- Nordestgaard, Børge G
- Olson, Janet E
- Padmanabhan, Sandosh
- Peterlongo, Paolo
- Peters, Ulrike
- Pharoah, Paul D P
- Pirastu, Nicola N
- Pistis, Giorgio
- Porteous, David
- Psaty, Bruce M
- Pylkäs, Katri
- Radice, Paolo
- Rivadeneira, Fernando
- Rudan, Igor
- Rudolph, Anja
- Ruggiero, Daniela
- Sala, Cinzia F
- Sanna, Serena
- Sawyer, Elinor J
- Schmidt, Marjanka K
- Schmidt, Frank
- Schoemaker, Minouk J
- Simard, Jacques
- Southey, Melissa C
- Strauch, Konstantin
- Swerdlow, Anthony
- Taylor, Kent D
- Toland, Amanda E
- Tomlinson, Ian
- Truong, Thérèse
- Turner, Stephen T
- Vozzi, Diego
- Wang, Qin
- Willemsen, Gonneke
- Wilson, James F
- Winqvist, Robert
- Yannoukakos, Drakoulis
- Zemunik, Tatijana
- Zheng, Wei
- Zygmunt, Marek
- Bergmann, Sven
- Boomsma, Dorret I
- Buring, Julie E
- Ferrucci, Luigi
- Montgomery, Grant W
- Gudnason, Vilmundur
- Spector, Tim D
- Alizadeh, Behrooz Z
- Ciullo, Marina
- Crisponi, Laura
- Easton, Douglas F
- Gasparini, Paolo P
- Gieger, Christian
- Harris, Tamara B
- Hayward, Caroline
- Kraft, Peter
- Metspalu, Andres
- Morrison, Alanna C
- Reiner, Alex P
- Ridker, Paul M
- Rotter, Jerome I
- Toniolo, Daniela
- Uitterlinden, André G
- Ulivi, Sheila
- Völzke, Henry
- Wareham, Nicholas J
- Weir, David R
- Yerges-Armstrong, Laura M
- Price, Alkes L
- Ong, Ken K
- Chang-Claude, Jenny
- Murabito, Joanne M
- Perry, John R B
- Murray, Anna
- Venue
- Nature Genetics
- Published
- 2015-09-28
- Volume
- 47
- Issue
- 11
- Pages
- 1294-1303
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4661791
- OpenAlex
- W1904407543
- Cited by
- 402
- References
- 57
- Citations by year
- 2026: 21 · 2025: 27 · 2024: 39 · 2023: 43 · 2022: 46 · 2021: 55 · 2020: 38 · 2019: 40 · 2018: 36 · 2017: 35 · 2016: 18 · 2015: 4
- FWCI
- 19.23
- Type
- journal article
- Language
- en
- Open access
- green
- kclpure.kcl.ac.uk
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- other-oa
- www.springer.com/tdm (tdm)
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- National Institute for Health and Care Research (03/DHCS/03/G121/51, NF-SI-0514-10027, NF-SI-0512-10135)
- National Institutes of Health (5r01ag032098-05, n01hc085082-026, n01hc085081-021, n01ag062101-007, n01hc085079-024, n01ag062103-006, n01hc085083-027, UL1TR001108, n01hc085080-026, n01hc95161-24-0-1, n01ag062106-007, UL1TR000124, HHSN268201100004C, n01hc085086-022, n01hc95160-18-0-1, HHSN268201100001C, HHSN268201100002C, n01hc25195-41-0-1, n01hc55222-0-0-0, 5r01hl043851-10, n01hc95159-40-0-1, HHSN268201100003C)
- Medical Research Council (MC_UU_12015/1, MC_PC_13048, MC_UU_12015/2)
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- National Heart, Lung, and Blood Institute (N01-HC-85081, HHSN268201 100012C, R01HL080467, HHSN268201100007C, N01HC-85083, N01 HC-95159, N01-HC-95160, HL-054481, HHSN2682 01100008C, HL043851, HH-SN-268201100006C, HHSN268201100011C, HL-105756, N01‐HC25195, HL-087652, N01HC85082, N01 HC85086, HL-054457, N01 HC-95161, R01HL087652, HHSN268201100005C, HHSN 268200800007C, HL054464, U01HL084756, N01HC85080, R01HL087660, HHSN268201100010C, N02- HL-64278, R01HL119443, N01 HC55222, HL-087660, R01HL087641, HHSN268201200036C, R01HL059367, HHSN268201100046C, HHSN26820 1100009C, R01HL105756, HL080467, U01HL072515, K01HL116770, HL080295, RC2HL102419, N01-HC85079)
- National Institute on Drug Abuse (HHSN271201100005C)
- National Human Genome Research Institute (HG 007022, HG005552, HG005581, R01HG007089, HG007089, HG006513, U01HG004402, U01HG006513, RC2HG005552, R01HG007022, RC2HG005581, HHSN268200782096C)
- National Cancer Institute (R01CA128978, U19CA148065, U19CA148537, CA164920, UM1CA182913, U19CA148112, (CA128978, UM1CA182910, P30CA015704)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK063491, P30DK072488, R01DK075787, P30DK063491)
- National Center for Research Resources (UL1RR025005)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Menopause: Health Impacts and Treatments
- Keywords
- age at natural menopause, reproductive aging, hypothalamic signaling, delayed puberty, DNA damage response, BRCA1, breast cancer susceptibility, rare missense variants, infertility, Mendelian randomization
- MeSH terms
- Adult, Age Factors, Aging, Breast Neoplasms, DNA Repair, Female, Genotype, Humans, Hypothalamus, Menopause, Middle Aged, Models, Genetic, Phenotype, Reproduction, Genetic Variation, Signal Transduction, BRCA1 Protein, Genetic Predisposition to Disease, Genomics, Gene Regulatory Networks, Genome-Wide Association Study
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