Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Australian Ovarian Cancer Study; Perry, John R. B.; The GENICA Network; kConFab; The LifeLines Cohort Study; The InterAct Consortium; Early Growth Genetics (EGG) Consortium; Day, Felix; Elks, Cathy E.; Sulem, Patrick; Thompson, Deborah J.; Ferreira, Teresa; He, Chunyan; Chasman, Daniel I.; Esko, Tõnu; Thorleifsson, Gudmar; Albrecht, Eva; Ang, Wei Q.; Corre, Tanguy; Cousminer, Diana L.; Feenstra, Bjarke; Franceschini, Nora; Ganna, Andrea; Johnson, Andrew D.; Kjellqvist, Sanela; Lunetta, Kathryn L.; McMahon, George; Nolte, Ilja M.; Paternoster, Lavinia; Porcu, Eleonora; Smith, Albert V.; Stolk, Lisette; Teumer, Alexander; Tšernikova, Natalia; Tikkanen, Emmi; Ulivi, Sheila; Wagner, Erin K.; Amin, Najaf; Bierut, Laura J.; Byrne, Enda M.; Hottenga, Jouke-Jan; Koller, Daniel L.; Mangino, Massimo; Pers, Tune H.; Yerges-Armstrong, Laura M.; Hua Zhao, Jing; Andrulis, Irene L.; Anton-Culver, Hoda; Atsma, Femke; Bandinelli, Stefania

doi:10.1038/nature13545

Cited by 604Hypothalamic control of reproductive hormonesGenetic Associations and EpidemiologyGenetic Syndromes and Imprinting

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

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Australian Ovarian Cancer Study, Perry, John R. B., The GENICA Network, kConFab, The LifeLines Cohort Study, The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Day, Felix +196 more·2014·Nature

DOI 10.1038/nature13545PMC PMC4185210

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Abstract

Here 106 genomic loci associated with age at menarche, a marker of puberty timing in females, are identified; these loci show enrichment for genes involved in nuclear hormone receptor function, body mass index, and rare disorders of puberty, and for genes located in imprinted regions, with parent-of-origin specific effects at several loci. The age at which females first experience menstruation, called menarche, is a heritable trait associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and general mortality. This large-scale genome-wide association study identifies 123 signals at 106 genomic loci associated with age at menarche. New findings include parent-of-origin-specific allelic associations (both maternally and paternally driven) at three imprinted loci and the implication of retinoic acid and GABAB receptor II signalling and lysine-specific histone demethylation. These data bring new insights into the genetic architecture of puberty timing and suggest a model involving thousands of genetic variants. Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality1. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation2,3, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10−8) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.

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In a recent meta-analysis of genome-wide association and custom-genotyping array studies of age at menarche in up to 182,416 women of European descent, a variant downstream of MKRN3 had the largest effect size for association with menarche when the variant was paternally inherited.
“In a recent meta-analysis of genome-wide association and custom-genotyping array studies of age at menarche in up to 182 416 women of European descent, a variant downstream of MKRN3 had the largest effect size for association with menarche when the variant was paternally inherited.80”
From Pubertal development and regulation (2016) · cites this paper as [80]
After identification of the association of MKRN3 with puberty regulation, single nucleotide polymorphisms in imprinted gene regions were linked to the age of menarche, supporting puberty timing as a selective trait.
“After identification of the association of MKRN3 with puberty regulation, single nucleotide polymorphisms in imprinted gene regions were linked to the age of menarche, supporting puberty timing as a selective trait.80”
From Pubertal development and regulation (2016) · cites this paper as [80]

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D’Aloisio, A. A., DeRoo, L. A., Baird, D. D., Weinberg, C. R., & Sandler, D. P. (2013) · Epidemiology · doi:10.1097/ede.0b013e31828062b7 · Cited by 100 · see citing works
Population genomics in a disease targeted primary cell modelPreprint
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Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty
Cousminer, D. L., Stergiakouli, E., Berry, D. J., Ang, W., Groen‐Blokhuis, M. M., Körner, A., Siitonen, N., Ντάλλα, Ι., Marinelli, M., Perry, J. R. B., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu150 · Cited by 92 · see citing works
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Expression Quantitative Trait Loci Analysis Identifies Associations Between Genotype and Gene Expression in Human Intestine
Kabakchiev, B., & Silverberg, M. S. (2013) · Gastroenterology · doi:10.1053/j.gastro.2013.03.001 · Cited by 84 · see citing works
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Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human
Ruf, N., Bähring, S., Galetzka, D., Pliushch, G., Luft, F. C., Nürnberg, P., Haaf, T., Kelsey, G., & Zechner, U. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm216 · Cited by 66 · see citing works
Whole-genome association mapping of gene expression in the human prefrontal cortex
Liu, C., Cheng, L., Badner, J. A., Zhang, D., Craig, D. W., Redman, M., & Gershon, E. S. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.128 · Cited by 63 · see citing works
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
Temple, I. K., Shrubb, V, Lever, M., Bullman, H., & Mackay, D. J. G. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.050807 · Cited by 63 · see citing works
Central precocious puberty in girls with Williams syndrome
Partsch, C., Japing, I., Siebert, R., Gosch, A., Wessel, A., Sippell, W. G., & Pankau, R. (2002) · The Journal of Pediatrics · doi:10.1067/mpd.2002.127280 · Cited by 54 · see citing works
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The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes
Cusanovich, D. A., Billstrand, C., Zhou, X., Chavarria, C. I., Leon, S. D., Michelini, K., Pai, A. A., Ober, C., & Gilad, Y. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds021 · Cited by 49 · see citing works
GnRH Neuron Firing and Response to GABA in Vitro Depend on Acute Brain Slice Thickness and Orientation
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Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood
Mehta, D., Heim, K., Herder, C., Carstensen, M., Eckstein, G., Schurmann, C., Homuth, G., Nauck, M. A., Völker, U., Roden, M., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.106 · Cited by 41 · see citing works
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Retinoic acid-induced nNOS expression depends on a novel PI3K/Akt/DAX1 pathway in human TGW-nu-I neuroblastoma cells
Nagl, F., Schönhofer, K., Seidler, B., Mages, J., Allescher, H., Schmid, R. M., Schneider, G., & Saur, D. (2009) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00034.2009 · Cited by 29 · see citing works
Identification of Single Nucleotide Polymorphisms Regulating Peripheral Blood mRNA Expression with Genome-Wide Significance: An eQTL Study in the Japanese Population
Sasayama, D., Hori, H., Nakamura, S., Miyata, R., Teraishi, T., Hattori, K., Ota, M., Yamamoto, N., Higuchi, T., Amano, N., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0054967 · Cited by 24 · see citing works
Co-regulatory expression quantitative trait loci mapping: method and application to endometrial cancer
Kompass, K. S., & Witte, J. S. (2011) · BMC Medical Genomics · doi:10.1186/1755-8794-4-6 · Cited by 21 · see citing works
9-cis-Retinoic acid represses transcription of the gonadotropin-releasing hormone (GnRH) gene via proximal promoter region that is distinct from all-trans-retinoic acid response element
Cho, S., Chung, J., Han, J., Lee, B. J., Kim, D. H., Rhee, K., & Kim, K. (2001) · Molecular Brain Research · doi:10.1016/s0169-328x(01)00020-1 · Cited by 21 · see citing works
Vitamin A and iron supplementation is as efficient as hormonal therapy in constitutionally delayed children
Zadik, Z., Sinai, T., Zung, A., & Reifen, R. M. (2004) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2004.02034.x · Cited by 19 · see citing works
The correlation between clinical laboratory data and telomeric status of male patients with metabolic disorders and no clinical history of vascular events
Maeda, T., Oyama, J., Higuchi, Y., Koyanagi, M., Sasaki, M., Arima, T., Mimori, K., & Makino, N. (2010) · The Aging Male · doi:10.3109/13685538.2010.502270 · Cited by 8 · see citing works

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Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
Verbanck, M., Chen, C.-Y., Neale, B., & Do, R. (2018) · Nature Genetics · doi:10.1038/s41588-018-0099-7 · Cited by 8,591 · see citing works
An 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
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Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression
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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00913-z · Cited by 2,607 · see citing works
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Partitioning heritability by functional annotation using genome-wide association summary statistics
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Detection and interpretation of shared genetic influences on 42 human traits
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European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
Boehm, U., Bouloux, P.-M., Dattani, M. T., de Roux, N., Dodé, C., Dunkel, L., Dwyer, A. A., Giacobini, P., Hardelin, J.-P., Juul, A., et al. (2015) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2015.112 · Cited by 874 · see citing works
LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis
Zheng, J., Erzurumluoglu, A. M., Elsworth, B. L., Kemp, J. P., Howe, L., Haycock, P. C., Hemani, G., Tansey, K., Laurin, C., Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium, et al. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btw613 · Cited by 869 · see citing works
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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
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Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index
Study, T. L. C., Yang, J., Bakshi, A., Zhu, Z., Hemani, G., Vinkhuyzen, A. A. E., Lee, S. H., Robinson, M. R., Perry, J. R. B., Nolte, I. M., et al. (2015) · Nature Genetics · doi:10.1038/ng.3390 · Cited by 745 · see citing works
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Sex-dependent dominance at a single locus maintains variation in age at maturity in salmon
Barson, N. J., Aykanat, T., Hindar, K., Baranski, M., Bolstad, G. H., Fiske, P., Jacq, C., Jensen, A. J., Johnston, S. E., Karlsson, S., et al. (2015) · Nature · doi:10.1038/nature16062 · Cited by 627 · see citing works
Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
Day, F., Karaderi, T., Jones, M. R., Meun, C., He, C., Drong, A., Kraft, P., Lin, N., Huang, H., Broer, L., et al. (2018) · PLOS Genetics · doi:10.1371/journal.pgen.1007813 · Cited by 619 · see citing works
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Pubertal development and regulation
Abreu, A. P., & Kaiser, U. B. (2016) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(15)00418-0 · Cited by 611 · see citing works
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Study, T. L. C., Day, F. R., The InterAct Consortium, kConFab/AOCS Investigators, Endometrial Cancer Association Consortium, Ovarian Cancer Association Consortium, PRACTICAL consortium, Thompson, D. J., Helgason, H., Chasman, D. I., et al. (2017) · Nature Genetics · doi:10.1038/ng.3841 · Cited by 587 · see citing works
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Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis
Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Kasela, S., et al. (2018) · doi:10.1101/447367 · Cited by 2,607 · see citing works
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Widespread seasonal gene expression reveals annual differences in human immunity and physiology
Dopico, X. C., Evangelou, M., Ferreira, R. C., Guo, H., Pękalski, M. Ł., Smyth, D. J., Cooper, N., Burren, O. S., Fulford, A. J. C., Hennig, B. J., et al. (2015) · Nature Communications · doi:10.1038/ncomms8000 · Cited by 538 · see citing works
Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection
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
Dissecting the genetics of complex traits using summary association statistics
Paşaniuc, B., & Price, A. L. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.142 · Cited by 443 · see citing works
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
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., et al. (2015) · Nature Genetics · doi:10.1038/ng.3412 · Cited by 402 · see citing works
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Large-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
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Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data
Shi, H., Kichaev, G., & Pasaniuc, B. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.013 · Cited by 387 · see citing works
Genetic Associations with Gestational Duration and Spontaneous Preterm Birth
Zhang, G., Feenstra, B., Bačelis, J., Liu, X., Muglia, L. M., Juodakis, J., Miller, D. E., Litterman, N. K., Jiang, P., Russell, L. E., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1612665 · Cited by 376 · see citing works
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
Bryois, J., Skene, N., Hansen, T. F., Kogelman, L. J. A., Watson, H. J., Liu, Z., Adan, R. A. H., Alfredsson, L. S., Ando, T., Andreassen, O. A., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0610-9 · Cited by 375 · see citing works
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A population genetic interpretation of GWAS findings for human quantitative traits
Simons, Y. B., Bullaughey, K., Hudson, R. R., & Sella, G. (2018) · PLoS Biology · doi:10.1371/journal.pbio.2002985 · Cited by 363 · see citing works
Bayesian weighted Mendelian randomization for causal inference based on summary statistics
Zhao, J., Ming, J., Hu, X., Chen, G., Liu, J., & Yang, C. (2019) · Bioinformatics · doi:10.1093/bioinformatics/btz749 · Cited by 352 · see citing works
Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits
Shi, H., Mancuso, N., Spendlove, S. J., & Paşaniuc, B. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.022 · Cited by 345 · see citing works
Can the impact of childhood adiposity on disease risk be reversed? A Mendelian randomization study.
Richardson, T. G., Sanderson, E., Elsworth, B., Tilling, K., & Davey Smith, G. (2019) · doi:10.1101/19008011 · Cited by 321 · see citing works
Genome-wide analysis identifies 12 loci influencing human reproductive behavior
Barban, N., Study, L. C., Jansen, R., de Vlaming, R., Vaez, A., Mandemakers, J. J., Tropf, F. C., Shen, X., Wilson, J. F., Chasman, D. I., et al. (2016) · Nature Genetics · doi:10.1038/ng.3698 · Cited by 315 · see citing works
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Paediatric and adult-onset male hypogonadism
Salonia, A., Rastrelli, G., Hackett, G., Seminara, S. B., Huhtaniemi, I. T., Rey, R. A., Hellstrom, W. J. G., Palmert, M. R., Corona, G., Dohle, G. R., et al. (2019) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0087-y · Cited by 286 · see citing works
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk
Lu, Y., Day, F. R., Gustafsson, S., Buchkovich, M. L., Na, J., Bataille, V. A., Cousminer, D. L., Dastani, Z., Drong, A., Esko, T., et al. (2016) · Nature Communications · doi:10.1038/ncomms10495 · Cited by 285 · see citing works
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Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits
Mancuso, N., Shi, H., Goddard, P. C., Kichaev, G., Gusev, A., & Paşaniuc, B. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.031 · Cited by 265 · see citing works
Thinking About the Evolution of Complex Traits in the Era of Genome-Wide Association Studies
Sella, G., & Barton, N. (2019) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022316 · Cited by 263 · see citing works
Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
Trajanoska, K., Morris, J. A., Oei, L., Zheng, H.-F., Evans, D. M., Kiel, D. P., Ohlsson, C., Richards, J. B., & Rivadeneira, F. (2018) · BMJ · doi:10.1136/bmj.k3225 · Cited by 262 · see citing works
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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
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment
Schork, A. J., Won, H., Appadurai, V., Nudel, R., Gandal, M., Delaneau, O., Revsbech Christiansen, M., Hougaard, D. M., Bækved-Hansen, M., Bybjerg-Grauholm, J., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-018-0320-0 · Cited by 223 · see citing works
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty
Dauber, A. N., Cunha-Silva, M., Macedo, D. B., Brito, V. N., Abreu, A. P., Roberts, S. A., Montenegro, L. R., Andrew, M., Kirby, A. W., Weirauch, M. T., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-3677 · Cited by 215 · see citing works
Neuroendocrine control of the onset of puberty
Plant, T. M. (2015) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2015.04.002 · Cited by 213 · see citing works
Cohort Profile Update: The TRacking Adolescents' Individual Lives Survey (TRAILS)
Oldehinkel, A. J., Rosmalen, J. G. M., Buitelaar, J. K., Hoek, H. W., Ormel, J., Raven, D., Reijneveld, S. A., Veenstra, R., Verhulst, F. C., Vollebergh, W., et al. (2014) · International Journal of Epidemiology · doi:10.1093/ije/dyu225 · Cited by 212 · see citing works
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Mendelian randomization analysis using mixture models for robust and efficient estimation of causal effects.
Qi, G., & Chatterjee, N. (2019) · Nature Communications · doi:10.1038/s41467-019-09432-2 · Cited by 207 · see citing works
Copy Number Variations and Cognitive Phenotypes in Unselected Populations
Männik, K., Mägi, R., Macé, A., Cole, B., Guyatt, A. L., Shihab, H. A., Maillard, A. M., Alavere, H., Kolk, A., Reigo, A., et al. (2015) · JAMA · doi:10.1001/jama.2015.4845 · Cited by 201 · see citing works
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Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations
Kim-Hellmuth, S., Bechheim, M., Pütz, B., Mohammadi, P., Nédélec, Y., Giangreco, N., Becker, J., Kaiser, V. B., Fricker, N., Beier, E., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-00366-1 · Cited by 196 · see citing works
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism
Stamou, M. I., & Georgopoulos, N. A. (2017) · Metabolism · doi:10.1016/j.metabol.2017.10.012 · Cited by 194 · see citing works
Exploring the association of genetic factors with participation in the Avon Longitudinal Study of Parents and Children
Taylor, A. E., Jones, H. J., Sallis, H., Euesden, J., Stergiakouli, E., Davies, N. M., Zammit, S., Lawlor, D. A., Munafò, M. R., Davey Smith, G., et al. (2018) · International Journal of Epidemiology · doi:10.1093/ije/dyy060 · Cited by 192 · see citing works
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Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis
Nead, K. T., Sharp, S. J., Thompson, D. J., Painter, J. N., Savage, D. B., Semple, R. K., Barker, A., Perry, J. R. B., Attia, J., Dunning, A. M., et al. (2015) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djv178 · Cited by 183 · see citing works
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Physical and neurobehavioral determinants of reproductive onset and success
Day, F. R., Helgason, H., Chasman, D. I., Rose, L. M., Loh, P., Scott, R. A., Helgason, A., Kong, A., Másson, G., Magnússon, Ó. Þ., et al. (2016) · Nature Genetics · doi:10.1038/ng.3551 · Cited by 170 · see citing works
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Exome sequencing of Finnish isolates enhances rare-variant association power
Locke, A. E., Steinberg, K. M., Chiang, C. W. K., Service, S. K., Havulinna, A. S., Stell, L., Pirinen, M., Abel, H., Chiang, C., Fulton, R. S., et al. (2019) · Nature · doi:10.1038/s41586-019-1457-z · Cited by 170 · see citing works
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Resource profile and user guide of the Polygenic Index Repository
Becker, J., Burik, C. A. P., Goldman, G., Wang, N., Jayashankar, H., Bennett, M., Belsky, D. W., Linnér, R. K., Ahlskog, R., Kleinman, A., et al. (2021) · Nature Human Behaviour · doi:10.1038/s41562-021-01119-3 · Cited by 170 · see citing works
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Evaluating and improving heritability models using summary statistics
Speed, D., Holmes, J., & Balding, D. J. (2020) · Nature Genetics · doi:10.1038/s41588-020-0600-y · Cited by 165 · see citing works
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
EMBRACE, Dunning, A. M., Collaborators, G. S., HEBON, kConFab Investigators, Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3521 · Cited by 161 · see citing works
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Sociology, Genetics, and the Coming of Age of Sociogenomics
Mills, M. C., & Tropf, F. C. (2020) · Annual Review of Sociology · doi:10.1146/annurev-soc-121919-054756 · Cited by 152 · see citing works
Neuronal brain-region-specific DNA methylation and chromatin accessibility are associated with neuropsychiatric trait heritability
Rizzardi, L. F., Hickey, P. F., Rodriguez DiBlasi, V., Tryggvadóttir, R., Callahan, C. M., Idrizi, A., Hansen, K. D., & Feinberg, A. P. (2019) · Nature Neuroscience · doi:10.1038/s41593-018-0297-8 · Cited by 146 · see citing works
Childhood obesity and central precocious puberty
Shi, L., Jiang, Z., & Zhang, L. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1056871 · Cited by 146 · see citing works
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
Kagami, M., Nagasaki, K., Kosaki, R., Horikawa, R., Naiki, Y., Saitoh, S., Tajima, T., Yorifuji, T., Numakura, C., Mizuno, S., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.53 · Cited by 144 · see citing works
Disentangling puberty: novel neuroendocrine pathways and mechanisms for the control of mammalian puberty
Avendaño, M. S., Vazquez, M. J., & Tena‐Sempere, M. (2017) · Human Reproduction Update · doi:10.1093/humupd/dmx025 · Cited by 139 · see citing works
Genetic evidence for natural selection in humans in the contemporary United States
Beauchamp, J. P. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1600398113 · Cited by 138 · see citing works
PLAG1 and NCAPG‐LCORL in livestock
Takasuga, A. (2015) · Animal Science Journal · doi:10.1111/asj.12417 · Cited by 134 · see citing works
Adult Consequences of Self-Limited Delayed Puberty
Zhu, J., & Chan, Y.-M. (2017) · PEDIATRICS · doi:10.1542/peds.2016-3177 · Cited by 133 · see citing works
Life History Transitions at the Origins of Agriculture: A Model for Understanding How Niche Construction Impacts Human Growth, Demography and Health
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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
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Vitamin D Receptor Signaling and Cancer
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Common variants associated with age at menarche
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
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Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibilityPreprint
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Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
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Differential Impact of Genetic Loci on Age at Thelarche and Menarche in Healthy Girls
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Authors: 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., Thompson, D. J., Ferreira, T., He, C., Chasman, D. I., Esko, T., Thorleifsson, G., Albrecht, E., Ang, W. Q., Corre, T., Cousminer, D. L., Feenstra, B., Franceschini, N., Ganna, A., Johnson, A. D., Kjellqvist, S., Lunetta, K. L., McMahon, G., Nolte, I. M., Paternoster, L., Porcu, E., Smith, A. V., Stolk, L., Teumer, A., Tšernikova, N., Tikkanen, E., Ulivi, S., Wagner, E. K., Amin, N., Bierut, L. J., Byrne, E. M., Hottenga, J.-J., Koller, D. L., Mangino, M., Pers, T. H., Yerges-Armstrong, L. M., Hua Zhao, J., Andrulis, I. L., Anton-Culver, H., Atsma, F., Bandinelli, S., Beckmann, M. W., Benitez, J., Blomqvist, C., Bojesen, S. E., Bolla, M. K., Bonanni, B., Brauch, H., Brenner, H., Buring, J. E., Chang-Claude, J., Chanock, S., Chen, J., Chenevix-Trench, G., Collée, J. M., Couch, F. J., Couper, D., Coviello, A. D., Cox, A., Czene, K., D’adamo, A. P., Davey Smith, G., De Vivo, I., Demerath, E. W., Dennis, J., Devilee, P., Dieffenbach, A. K., Dunning, A. M., Eiriksdottir, G., Eriksson, J. G., Fasching, P. A., Ferrucci, L., Flesch-Janys, D., Flyger, H., Foroud, T., Franke, L., Garcia, M. E., García-Closas, M., Geller, F., de Geus, E. E. J., Giles, G. G., Gudbjartsson, D. F., Gudnason, V., Guénel, P., Guo, S., Hall, P., Hamann, U., Haring, R., Hartman, C. A., Heath, A. C., Hofman, A., Hooning, M. J., Hopper, J. L., Hu, F. B., Hunter, D. J., Karasik, D., Kiel, D. P., Knight, J. A., Kosma, V.-M., Kutalik, Z., Lai, S., Lambrechts, D., Lindblom, A., Mägi, R., Magnusson, P. K., Mannermaa, A., Martin, N. G., Masson, G., McArdle, P. F., McArdle, W. L., Melbye, M., Michailidou, K., Mihailov, E., Milani, L., Milne, R. L., Nevanlinna, H., Neven, P., Nohr, E. A., Oldehinkel, A. J., Oostra, B. A., Palotie, A., Peacock, M., Pedersen, N. L., Peterlongo, P., Peto, J., Pharoah, P. D. P., Postma, D. S., Pouta, A., Pylkäs, K., Radice, P., Ring, S., Rivadeneira, F., Robino, A., Rose, L. M., Rudolph, A., Salomaa, V., Sanna, S., Schlessinger, D., Schmidt, M. K., Southey, M. C., Sovio, U., Stampfer, M. J., Stöckl, D., Storniolo, A. M., Timpson, N. J., Tyrer, J., Visser, J. A., Vollenweider, P., Völzke, H., Waeber, G., Waldenberger, M., Wallaschofski, H., Wang, Q., Willemsen, G., Winqvist, R., Wolffenbuttel, B. H. R., Wright, M. J., Boomsma, D. I., Econs, M. J., Khaw, K.-T., Loos, R. J. F., McCarthy, M. I., Montgomery, G. W., Rice, J. P., Streeten, E. A., Thorsteinsdottir, U., van Duijn, C. M., Alizadeh, B. Z., Bergmann, S., Boerwinkle, E., Boyd, H. A., Crisponi, L., Gasparini, P., Gieger, C., Harris, T. B., Ingelsson, E., Järvelin, M.-R., Kraft, P., Lawlor, D., Metspalu, A., Pennell, C. E., Ridker, P. M., Snieder, H., Sørensen, T. I. A., Spector, T. D., Strachan, D. P., Uitterlinden, A. G., Wareham, N. J., Widen, E., Zygmunt, M., Murray, A., Easton, D. F., Stefansson, K., Murabito, J. M., & Ong, K. K.
Affiliations: Centre for Human Genetics (GB)
University of Bonn (DE)
deCODE Genetics (Iceland) (IS)
University of Cambridge (GB)
Indiana University Health (US)
Brigham and Women's Hospital (US)
Broad Institute (US)
Statens Serum Institut (DK)
University of North Carolina at Chapel Hill (US)
SIB Swiss Institute of Bioinformatics (CH)
Boston University (US)
Karolinska Institutet (SE)
Science for Life Laboratory (SE)
University of Bristol (GB)
University Medical Center Groningen (NL)
Universitätsmedizin Greifswald (DE)
University of Sassari (IT)
University of Helsinki (FI)
IRCCS Materno Infantile Burlo Garofolo (IT)
Erasmus MC (NL)
The University of Queensland (AU)
King's College London (GB)
University of Maryland, Baltimore (US)
Mount Sinai Hospital (CA)
University of Copenhagen (DK)
Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
Spanish National Cancer Research Centre (ES)
German Cancer Research Center (DE)
Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology (DE)
Mayo Clinic (US)
University of Minnesota (US)
Institute of Cancer Research (GB)
National Institutes of Health (US)
The University of Melbourne (AU)
University of Iceland (IS)
Université Paris-Sud (FR)
Washington University in St. Louis (US)
Harvard University (US)
Beth Israel Deaconess Medical Center (US)
University of Eastern Finland (FI)
QIMR Berghofer Medical Research Institute (AU)
University of Tartu (EE)
University of Southern Denmark (DK)
Finnish Institute for Health and Welfare (FI)
Oulu University Hospital (FI)
University of Trieste (IT)
National Research Council (IT)
The Netherlands Cancer Institute (NL)
Centre Hospitalier Universitaire Vaudois (CH)
Vrije Universiteit Amsterdam (NL)
Icahn School of Medicine at Mount Sinai (US)
Churchill Hospital (GB)
Centre for Medical Systems Biology (NL)
Helmholtz Munich (DE)
Uppsala University (SE)
The University of Western Australia (AU)
St George's, University of London (GB)
University of Exeter (GB)
Corresponding author: Perry, John R. B.
Murabito, Joanne M.
ORCID: Perry, John R. B.
Day, Felix
Sulem, Patrick
Thompson, Deborah J.
Ferreira, Teresa
He, Chunyan
Chasman, Daniel I.
Esko, Tõnu
Corre, Tanguy
Feenstra, Bjarke
Franceschini, Nora
Ganna, Andrea
Johnson, Andrew D.
Lunetta, Kathryn L.
Nolte, Ilja M.
Paternoster, Lavinia
Porcu, Eleonora
Smith, Albert V.
Teumer, Alexander
Tikkanen, Emmi
Ulivi, Sheila
Amin, Najaf
Bierut, Laura J.
Byrne, Enda M.
Hottenga, Jouke-Jan
Mangino, Massimo
Pers, Tune H.
Yerges-Armstrong, Laura M.
Andrulis, Irene L.
Atsma, Femke
Bandinelli, Stefania
Beckmann, Matthias W.
Benitez, Javier
Blomqvist, Carl
Bojesen, Stig E.
Bolla, Manjeet K.
Bonanni, Bernardo
Brauch, Hiltrud
Brenner, Hermann
Buring, Julie E.
Chang-Claude, Jenny
Chanock, Stephen
Chen, Jinhui
Couch, Fergus J.
Couper, David
Coviello, Andrea D.
Cox, Angela
Czene, Kamila
Demerath, Ellen W.
Dennis, Joe
Devilee, Peter
Dunning, Alison M.
Eriksson, Johan G.
Fasching, Peter A.
Ferrucci, Luigi
Foroud, Tatiana
Franke, Lude
Geller, Frank
Giles, Graham G.
Gudbjartsson, Daniel F.
Gudnason, Vilmundur
Guénel, Pascal
Guo, Suiqun
Hall, Per
Hamann, Ute
Haring, Robin
Hartman, Catharina A.
Heath, Andrew C.
Hooning, Maartje J.
Hopper, John L.
Hu, Frank B.
Karasik, David
Kiel, Douglas P.
Knight, Julia A.
Lai, Sandra
Lambrechts, Diether
Lindblom, Annika
Mägi, Reedik
Magnusson, Patrik K.
Martin, Nicholas G.
McArdle, Patrick F.
McArdle, Wendy L.
Melbye, Mads
Michailidou, Kyriaki
Milani, Lili
Milne, Roger L.
Nevanlinna, Heli
Neven, Patrick
Nohr, Ellen A.
Oldehinkel, Albertine J.
Palotie, Aarno
Peacock, Munro
Pedersen, Nancy L.
Peterlongo, Paolo
Peto, Julian
Pharoah, Paul D. P.
Postma, Dirkje S.
Pylkäs, Katri
Radice, Paolo
Ring, Susan
Rivadeneira, Fernando
Robino, Antonietta
Rose, Lynda M.
Rudolph, Anja
Salomaa, Veikko
Sanna, Serena
Schmidt, Marjanka K.
Sovio, Ulla
Stampfer, Meir J.
Storniolo, Anna M.
Timpson, Nicholas J.
Tyrer, Jonathan
Völzke, Henry
Wang, Qin
Willemsen, Gonneke
Winqvist, Robert
Wolffenbuttel, Bruce H. R.
Wright, Margaret J.
Boomsma, Dorret I.
Econs, Michael J.
Khaw, Kay-Tee
Loos, Ruth J. F.
McCarthy, Mark I.
Montgomery, Grant W.
Rice, John P.
Streeten, Elizabeth A.
Alizadeh, Behrooz Z.
Bergmann, Sven
Boerwinkle, Eric
Boyd, Heather A.
Crisponi, Laura
Gasparini, Paolo
Gieger, Christian
Harris, Tamara B.
Ingelsson, Erik
Järvelin, Marjo-Riitta
Kraft, Peter
Lawlor, Debbie
Metspalu, Andres
Pennell, Craig E.
Ridker, Paul M.
Snieder, Harold
Sørensen, Thorkild I. A.
Spector, Tim D.
Strachan, David P.
Uitterlinden, André G.
Wareham, Nicholas J.
Zygmunt, Marek
Murray, Anna
Easton, Douglas F.
Murabito, Joanne M.
Ong, Ken K.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2014-07-23
Volume: 514
Issue: 7520
Pages: 92-97
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature13545
PMC: PMC4185210
OpenAlex: W2155441570
Cited by: 604
References: 78
Citations by year: 2026: 13 · 2025: 35 · 2024: 55 · 2023: 42 · 2022: 45 · 2021: 41 · 2020: 49 · 2019: 81 · 2018: 69 · 2017: 58 · 2016: 59 · 2015: 50 · 2014: 5
FWCI: 69.48
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: other-oa
www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion, other-oa)
PubMed (publishedVersion)
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Funders: Brigham and Women's Hospital
University of Minnesota
School of Medicine, Boston University
Helsingin Yliopisto
Helsingin ja Uudenmaan Sairaanhoitopiiri
Deutsches Krebsforschungszentrum
Wellcome Trust (098381, 102215)
QIMR Berghofer Medical Research Institute
Cancer Research UK (10119, 16561, 16565, 10118, 16563, 11022, 10124)
National Institute for Health and Care Research (NF-SI-0512-10114)
Universiteit Leiden
Rijksuniversiteit Groningen
Eberhard Karls Universität Tübingen
Gentofte Hospital
Herlev Hospital
Novo Nordisk
Leids Universitair Medisch Centrum
Oulun Yliopisto
Uppsala Universitet
Science for Life Laboratory
Faculty of Health and Medical Sciences, University of Western Australia
Novo Nordisk Foundation Center for Basic Metabolic Research
Deutschen Konsortium für Translationale Krebsforschung
Terveyden ja hyvinvoinnin laitos
National Institutes of Health (UL1TR001108, 20892, MD 20892)
University of North Carolina at Chapel Hill
School of Medicine, Indiana University
Geriatric Research Education and Clinical Center
Medical Research Council (MR/J012165/1, MC_UU_12015/2, MC_PC_15018, MC_UU_12015/1)
Det Sundhedsvidenskabelige Fakultet, Københavns Universitet
Erasmus Universitair Medisch Centrum Rotterdam
Biocenter, University of Oulu
National Institute on Aging (U01AG049505, R01AG041517)
National Cancer Institute (MD 20892, 20892, P50CA116201)
National Institute of Neurological Disorders and Stroke (R01NS017950)
NIH Clinical Center
National Center for Advancing Translational Sciences
Division of Cancer Epidemiology and Genetics, National Cancer Institute
Topics: Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Keywords: age at menarche, puberty timing, parent-of-origin effects, genomic imprinting, nuclear receptors, retinoic acid signaling, body mass index, KCNK9, genetic architecture, European women
MeSH terms: Adolescent, Age Factors, Alleles, Breast Neoplasms, Calcium-Binding Proteins, Cardiovascular Diseases, Child, Diabetes Mellitus, Type 2, Europe, Female, Humans, Hypothalamo-Hypophyseal System, Male, Membrane Proteins, Menarche, Obesity, Ovary, Parents, Proteins, Ribonucleoproteins, Body Mass Index, Receptors, GABA-B, Receptors, Retinoic Acid, Genomic Imprinting, Polymorphism, Single Nucleotide, Potassium Channels, Tandem Pore Domain, Intercellular Signaling Peptides and Proteins, Quantitative Trait Loci, Ubiquitin-Protein Ligases, Intracellular Signaling Peptides and Proteins, Genome-Wide Association Study, Genetic Loci, Intrinsically Disordered Proteins

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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

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