CoChat
Sign Up
Cited by 23

The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.

Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring

Benonisdottir, Stefania, Straub, Vincent J., Kong, Augustine, Mills, Melinda C.·2024·Nature Aging
DOI 10.1038/s43587-024-00733-w
Open this paper in CoChat — free account

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1038/s43587-024-00733-w

Cites

24 of 24 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Flagged first, then by citations

Show all 24 references

Research works printed but not linked: 163

  1. Balbo, N., Billari, F. C. & Mills, M. Fertility in advanced societies: a review of research. Eur. J. Popul. 29, 1–38 (2013). · DOI · Paper page
  2. Leone, T. & Brown, L. J. Timing and determinants of age at menarche in low-income and middle-income countries. BMJ Glob. Health 5, e003689 (2020). · DOI
  3. Mills, M. C. et al. Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour. Nat. Hum. Behav. 5, 1717–1730 (2021). · DOI
  4. Sobotka, T. Un tiers des femmes d’Asie de l’Est resteront sans enfant. Popul. Soc. 595, 1–4 (2021).
  5. Mathieson, I. et al. Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus. Nat. Hum. Behav. 7, 790–801 (2023). · DOI
  6. Mills, M., Rindfuss, R. R., McDonald, P. & te Velde, E. Why do people postpone parenthood? Reasons and social policy incentives. Hum. Reprod. Update 17, 848–860 (2011). · DOI · Paper page
  7. Timæus, I. M. & Moultrie, T. A. Pathways to low fertility: 50 years of limitation, curtailment, and postponement of childbearing. Demography 57, 267–296 (2020). · DOI
  8. Cox, C. M. et al. Infertility prevalence and the methods of estimation from 1990 to 2021: a systematic review and meta-analysis. Hum. Reprod. Open 2022, hoac051 (2022). · DOI · Paper page
  9. Saarela, J. & Skirbekk, V. Childlessness and union histories: evidence from Finnish population register data. J. Biosoc. Sci. 52, 78–96 (2020). · DOI · Paper page
  10. Briley, D. A., Harden, K. P. & Tucker-Drob, E. M. Genotype × cohort interaction on completed fertility and age at first birth. Behav. Genet. 45, 71–83 (2015). · DOI
  11. Zorrilla, M. & Yatsenko, A. N. The genetics of infertility: current status of the field. Curr. Genet. Med. Rep. 1, 247–260 (2013). · DOI
  12. Tropf, F. C. et al. Human fertility, molecular genetics, and natural selection in modern societies. PLoS ONE 10, e0126821 (2015). · DOI · Paper page
  13. Day, F. R. et al. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nat. Genet. 49, 834–841 (2017). · DOI · Paper page
  14. Perry, J. R. B., Murray, A., Day, F. R. & Ong, K. K. Molecular insights into the aetiology of female reproductive ageing. Nat. Rev. Endocrinol. 11, 725–734 (2015). · DOI
  15. Stolk, L. et al. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat. Genet. 44, 260–268 (2012). · DOI
  16. Lee, S. H. et al. Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer’s disease, multiple sclerosis and endometriosis. Hum. Mol. Genet. 22, 832–841 (2013). · DOI · Paper page
  17. Bray, M. J. et al. Estimating uterine fibroid SNP-based heritability in European American women with imaging-confirmed fibroids. Hum. Hered. 84, 73–81 (2019). · DOI
  18. Mills, M. C. & Tropf, F. C. The biodemography of fertility: a review and future research frontiers. Kölner Z. Soz. Sozialpsychol. 67, 397–424 (2015).
  19. Sollis, E. et al. The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource. Nucleic Acids Res. 51, D977–D985 (2023). · DOI · Paper page
  20. Palmert, M. R. & Boepple, P. A. Variation in the timing of puberty: clinical spectrum and genetic investigation. J. Clin. Endocrinol. Metab. 86, 2364–2368 (2001). · DOI
  21. Morris, D. H. et al. Body mass index, exercise, and other lifestyle factors in relation to age at natural menopause: analyses from the breakthrough generations study. Am. J. Epidemiol. 175, 998–1005 (2012). · DOI
  22. Levitas, E., Lunenfeld, E., Weisz, N., Friger, M. & Potashnik, G. Relationship between age and semen parameters in men with normal sperm concentration: analysis of 6022 semen samples. Andrologia 39, 45–50 (2007). · DOI
  23. Silvén, H. et al. Incidence and familial risk of premature ovarian insufficiency in the Finnish female population. Hum. Reprod. 37, 1030–1036 (2022). · DOI
  24. Day, F. R. et al. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat. Genet. 47, 1294–1303 (2015). · DOI · Paper page
  25. Pines, A. Male menopause: is it a real clinical syndrome? Climacteric 14, 15–17 (2011). · DOI
  26. Stone, B. A., Alex, A., Werlin, L. B. & Marrs, R. P. Age thresholds for changes in semen parameters in men. Fertil. Steril. 100, 952–958 (2013). · DOI
  27. Mills, M. C., Barban, N. & Tropf, F. C. An Introduction to Statistical Genetic Data Analysis (MIT Press, 2020).
  28. Sulem, P. et al. Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. Nat. Genet. 41, 734–738 (2009). · DOI · Paper page
  29. Ong, K. K. et al. Infancy weight gain predicts childhood body fat and age at menarche in girls. J. Clin. Endocrinol. Metab. 94, 1527–1532 (2009). · DOI
  30. Stolk, L. et al. Loci at chromosomes 13, 19 and 20 influence age at natural menopause. Nat. Genet. 41, 645–647 (2009). · DOI
  31. Kanetsky, P. A. et al. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nat. Genet. 41, 811–815 (2009). · DOI
  32. Rapley, E. A. et al. A genome-wide association study of testicular germ cell tumor. Nat. Genet. 41, 807–810 (2009). · DOI
  33. Song, H. et al. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat. Genet. 41, 996–1000 (2009). · DOI
  34. Day, F. R. et al. Shared genetic aetiology of puberty timing between sexes and with health-related outcomes. Nat. Commun. 6, 8842 (2015). · DOI
  35. Barban, N. et al. Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nat. Genet. 48, 1462–1472 (2016). · DOI
  36. Ruth, K. S. et al. Using human genetics to understand the disease impacts of testosterone in men and women. Nat. Med. 26, 252–258 (2020). · DOI · Paper page
  37. Laisk, T. et al. The genetic architecture of sporadic and multiple consecutive miscarriage. Nat. Commun. 11, 5980 (2020). · DOI
  38. Hamosh, A. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 33, D514–D517 (2004). · DOI
  39. Mbarek, H. et al. Identification of common genetic variants influencing spontaneous dizygotic twinning and female fertility. Am. J. Hum. Genet. 98, 898–908 (2016). · DOI
  40. Ruth, K. S. et al. Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes. Eur. J. Hum. Genet. 24, 284–290 (2016). · DOI · Paper page
  41. Yan, J. et al. A genome-wide association study identifies FSHR rs2300441 associated with follicle-stimulating hormone levels. Clin. Genet. 97, 869–877 (2020). · DOI
  42. Kichaev, G. et al. Leveraging polygenic functional enrichment to improve GWAS power. Am. J. Hum. Genet. 104, 65–75 (2019). · DOI · Paper page
  43. Rafnar, T. et al. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. Nat. Commun. 9, 3636 (2018). · DOI
  44. Li, Y. et al. DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella. Clin. Genet. 95, 590–600 (2019). · DOI
  45. Leinonen, J. T. et al. Genetic analyses implicate complex links between adult testosterone levels and health and disease. Commun. Med. 3, 4 (2023). · DOI
  46. Colson, N. J., Lea, R. A., Quinlan, S., MacMillan, J. & Griffiths, L. R. The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups. Neurogenetics 5, 129–133 (2004). · DOI
  47. Schuit, S. C. E. et al. Estrogen receptor α gene polymorphisms and risk of myocardial infarction. JAMA 291, 2969–2977 (2004). · DOI
  48. Smith, E. P. et al. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N. Engl. J. Med. 331, 1056–1061 (1994). · DOI · Paper page
  49. Ruth, K. S. et al. Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan. Hum. Mol. Genet. 28, 1392–1401 (2019). · DOI
  50. Haas, C. B., Hsu, L., Lampe, J. W., Wernli, K. J. & Lindström, S. Cross-ancestry genome-wide association studies of sex hormone concentrations in pre- and postmenopausal women. Endocrinology 163, bqac020 (2022). · DOI
  51. Gallagher, C. S. et al. Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. Nat. Commun. 10, 4857 (2019). · DOI
  52. AlAsiri, S. et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J. Clin. Invest. 125, 258–262 (2015). · DOI
  53. Sakaue, S. et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat. Genet. 53, 1415–1424 (2021). · DOI
  54. Solé-Navais, P. et al. Genetic effects on the timing of parturition and links to fetal birth weight. Nat. Genet. 55, 559–567 (2023). · DOI
  55. Pujol-Gualdo, N. et al. Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse. Nat. Commun. 13, 3584 (2022). · DOI
  56. Mandel, H. et al. SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am. J. Hum. Genet. 82, 39–47 (2008). · DOI
  57. Biason-Lauber, A., Konrad, D., Navratil, F. & Schoenle, E. J. A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. N. Engl. J. Med. 351, 792–798 (2004). · DOI
  58. Frayling, T. M. et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316, 889–894 (2007). · DOI · Paper page
  59. Broughton, D. E. & Moley, K. H. Obesity and female infertility: potential mediators of obesity’s impact. Fertil. Steril. 107, 840–847 (2017). · DOI · Paper page
  60. Stankovic, S. et al. Genetic links between ovarian ageing, cancer risk and de novo mutation rates. Nature 633, 608–614 (2024). · DOI
  61. Oddsson, A. et al. Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency. Nat. Genet. 56, 1804–1810 (2024). · DOI
  62. Montgomery, G. W. et al. The future for genetic studies in reproduction. Mol. Hum. Reprod. 20, 1–14 (2014). · DOI
  63. He, C. & Murabito, J. M. Genome-wide association studies of age at menarche and age at natural menopause. Mol. Cell. Endocrinol. 382, 767–779 (2014). · DOI
  64. Ahmed, M. L., Ong, K. K. & Dunger, D. B. Childhood obesity and the timing of puberty. Trends Endocrinol. Metab. 20, 237–242 (2009). · DOI · Paper page
  65. Mumby, H. S. et al. Mendelian randomisation study of childhood BMI and early menarche. J. Obes. 2011, 180729 (2011). · DOI
  66. Butler, M. G., McGuire, A. & Manzardo, A. M. Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction. J. Assist. Reprod. Genet. 32, 495–508 (2015). · DOI
  67. Horikoshi, M. et al. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat. Genet. 45, 76–82 (2013). · DOI · Paper page
  68. Liu, A. et al. Evidence from Finland and Sweden on the relationship between early-life diseases and lifetime childlessness in men and women. Nat. Hum. Behav. 8, 276–287 (2023). · DOI · Paper page
  69. Schoenaker, D. A. J. M., Jackson, C. A., Rowlands, J. V. & Mishra, G. D. Socioeconomic position, lifestyle factors and age at natural menopause: a systematic review and meta-analyses of studies across six continents. Int. J. Epidemiol. 43, 1542–1562 (2014). · DOI · Paper page
  70. Tao, X. et al. Body mass index and age at natural menopause: a meta-analysis. Menopause 22, 469–474 (2015). · DOI
  71. Atwood, C. S. et al. Dysregulation of the hypothalamic–pituitary–gonadal axis with menopause and andropause promotes neurodegenerative senescence. J. Neuropathol. Exp. Neurol. 64, 93–103 (2005). · DOI
  72. Jeselsohn, R., Buchwalter, G., De Angelis, C., Brown, M. & Schiff, R. ESR1 mutations—a mechanism for acquired endocrine resistance in breast cancer. Nat. Rev. Clin. Oncol. 12, 573–583 (2015). · DOI
  73. Anderson, K. N., Schwab, R. B. & Martinez, M. E. Reproductive risk factors and breast cancer subtypes: a review of the literature. Breast Cancer Res. Treat. 144, 1–10 (2014). · DOI
  74. Ruth, K. S. et al. Genetic insights into biological mechanisms governing human ovarian ageing. Nature 596, 393–397 (2021). · DOI
  75. Louwers, Y. V. & Visser, J. A. Shared genetics between age at menopause, early menopause, POI and other traits. Front. Genet. 12, 676546 (2021). · DOI
  76. Hartge, P. Genetics of reproductive lifespan. Nat. Genet. 41, 637–638 (2009). · DOI
  77. Ossewaarde, M. E. et al. Age at menopause, cause-specific mortality and total life expectancy. Epidemiology 16, 556–562 (2005). · DOI
  78. Day, F. R., Elks, C. E., Murray, A., Ong, K. K. & Perry, J. R. B. Puberty timing associated with diabetes, cardiovascular disease and also diverse health outcomes in men and women: the UK Biobank study. Sci. Rep. 5, 11208 (2015). · DOI
  79. Hammarberg, K., Collins, V., Holden, C., Young, K. & McLachlan, R. Men’s knowledge, attitudes and behaviours relating to fertility. Hum. Reprod. Update 23, 458–480 (2017). · DOI
  80. Tropf, F. C. et al. Hidden heritability due to heterogeneity across seven populations. Nat. Hum. Behav. 1, 757–765 (2017). · DOI · Paper page
  81. Benonisdottir, S. & Kong, A. Studying the genetics of participation using footprints left on the ascertained genotypes. Nat. Genet. 55, 1413–1420 (2023). · DOI
  82. Mills, M. C. & Mathieson, I. The challenge of detecting recent natural selection in human populations. Proc. Natl Acad. Sci. USA 119, e2203237119 (2022). · DOI
  83. Davies, N. M. et al. The importance of family-based sampling for biobanks. Nature https://doi.org/10.1038/s41586-024-07721-5 (2024). · DOI
  84. Thompson, D. J. et al. Genetic predisposition to mosaic Y chromosome loss in blood. Nature 575, 652–657 (2019). · DOI
  85. Sano, S. et al. Hematopoietic loss of Y chromosome leads to cardiac fibrosis and heart failure mortality. Science 377, 292–297 (2022). · DOI
  86. Voskarides, K. & Giannopoulou, N. The role of TP53 in adaptation and evolution. Cells 12, 512 (2023). · DOI
  87. Yureneva, S. et al. Searching for female reproductive aging and longevity biomarkers. Aging 13, 16873–16894 (2021). · DOI
  88. Levine, M. E. et al. Menopause accelerates biological aging. Proc. Natl Acad. Sci. USA 113, 9327–9332 (2016). · DOI
  89. Olsen, K. W. et al. Identification of a unique epigenetic profile in women with diminished ovarian reserve. Fertil. Steril. 115, 732–741 (2021). · DOI
  90. Austad, S. N. & Hoffman, J. M. Is antagonistic pleiotropy ubiquitous in aging biology? Evol. Med. Public Health 2018, 287–294 (2018). · DOI
  91. Takeshita, R. S. C. A life for a (shorter) life: the reproduction–longevity trade-off. Proc. Natl Acad. Sci. USA 121, e2405089121 (2024). · DOI
  92. Wu, D. et al. An antagonistic pleiotropic gene regulates the reproduction and longevity tradeoff. Proc. Natl Acad. Sci. USA 119, e2120311119 (2022). · DOI
  93. Wang, X., Byars, S. G. & Stearns, S. C. Genetic links between post-reproductive lifespan and family size in Framingham. Evol. Med. Public Health 2013, 241–253 (2013). · DOI
  94. Long, E. & Zhang, J. Evidence for the role of selection for reproductively advantageous alleles in human aging. Sci. Adv. 9, eadh4990 (2023). · DOI · Paper page
  95. Hollis, B. et al. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan. Nat. Commun. 11, 1536 (2020). · DOI
  96. Pham, H. et al. The effects of pregnancy, its progression, and its cessation on human (maternal) biological aging. Cell Metab. 36, 877–878 (2024). · DOI
  97. Ryan, C. P. et al. Pregnancy is linked to faster epigenetic aging in young women. Proc. Natl Acad. Sci. USA 121, e2317290121 (2024). · DOI
  98. Lahdenperä, M., Lummaa, V., Helle, S., Tremblay, M. & Russell, A. F. Fitness benefits of prolonged post-reproductive lifespan in women. Nature 428, 178–181 (2004). · DOI
  99. Lee, R. D. Rethinking the evolutionary theory of aging: transfers, not births, shape senescence in social species. Proc. Natl Acad. Sci. USA 100, 9637–9642 (2003). · DOI
  100. Zhu, J. L., Madsen, K. M., Vestergaard, M., Basso, O. & Olsen, J. Paternal age and preterm birth. Epidemiology 16, 259–262 (2005). · DOI
  101. Janeczko, D., Hołowczuk, M., Orzeł, A., Klatka, B. & Semczuk, A. Paternal age is affected by genetic abnormalities, perinatal complications and mental health of the offspring. Biomed. Rep. 12, 83–88 (2019).
  102. Liu, Y. & Gao, J. Reproductive aging: biological pathways and potential interventive strategies. J. Genet. Genomics 50, 141–150 (2023).
  103. Herbert, M., Kalleas, D., Cooney, D., Lamb, M. & Lister, L. Meiosis and maternal aging: insights from aneuploid oocytes and trisomy births. Cold Spring Harb. Perspect. Biol. 7, a017970 (2015).
  104. Goldmann, J. M. et al. Parent-of-origin-specific signatures of de novo mutations. Nat. Genet. 48, 935–939 (2016). · DOI
  105. Malaspina, D. Paternal factors and schizophrenia risk: de novo mutations and imprinting. Schizophr. Bull. 27, 379–393 (2001). · DOI
  106. Hudson, W. C. Sperm banking as a strategy to reduce harms associated with advancing paternal age. Food Drug Law J. 70, 573–591 (2015).
  107. Zhang, F., Liu, M. & Gao, J. Alterations in synaptonemal complex coding genes and human infertility. Int. J. Biol. Sci. 18, 1933–1943 (2022). · DOI
  108. Aitken, R. J. Male reproductive ageing: a radical road to ruin. Hum. Reprod. 38, 1861–1871 (2023). · DOI
  109. Houston, B. J. et al. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships. Hum. Reprod. Update 28, 15–29 (2021). · DOI
  110. Kimmins, S. et al. Frequency, morbidity and equity — the case for increased research on male fertility. Nat. Rev. Urol. 21, 102–124 (2024). · DOI
  111. Eisenberg, M. L. et al. Male infertility. Nat. Rev. Dis. Prim. 9, 49 (2023). · DOI · Paper page
  112. Feldman, R., Braun, K. & Champagne, F. A. The neural mechanisms and consequences of paternal caregiving. Nat. Rev. Neurosci. 20, 205–224 (2019). · DOI
  113. Barratt, C. L. R. et al. A global approach to addressing the policy, research and social challenges of male reproductive health. Hum. Reprod. Open 2021, hoab009 (2021). · DOI
  114. Kuroda, S. et al. Genetic disorders and male infertility. Reprod. Med. Biol. 19, 314–322 (2020). · DOI
  115. Straub, V. J. & Mills, M. C. The interplay between male fertility, mental health and sexual function. Nat. Rev. Urol. https://doi.org/10.1038/s41585-024-00936-1 (2024). · DOI
  116. Mills, M. C. & Rahal, C. The GWAS Diversity Monitor tracks diversity by disease in real time. Nat. Genet. 52, 242–243 (2020). · DOI
  117. Henrich, J., Heine, S. J. & Norenzayan, A. The weirdest people in the world? Behav. Brain Sci. 33, 61–83 (2010).
  118. Mills, M. C. & Rahal, C. A scientometric review of genome-wide association studies. Commun. Biol. 2, 9 (2019). · DOI
  119. Hallast, P. et al. A common 1.6 Mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans. eLife 10, e65420 (2021). · DOI
  120. Katon, J. G., Plowden, T. C. & Marsh, E. E. Racial disparities in uterine fibroids and endometriosis: a systematic review and application of social, structural, and political context. Fertil. Steril. 119, 355–363 (2023). · DOI
  121. Bar-Sadeh, B. et al. Unravelling the role of epigenetics in reproductive adaptations to early-life environment. Nat. Rev. Endocrinol. 16, 519–533 (2020). · DOI
  122. Rattan, S. et al. Exposure to endocrine disruptors during adulthood: consequences for female fertility. J. Endocrinol. 233, R109–R129 (2017). · DOI
  123. Carré, J., Gatimel, N., Moreau, J., Parinaud, J. & Léandri, R. Does air pollution play a role in infertility?: a systematic review. Environ. Health 16, 82 (2017). · DOI · Paper page
  124. Rim, K.-T. Reproductive toxic chemicals at work and efforts to protect workers’ health: a literature review. Saf. Health Work 8, 143–150 (2017). · DOI
  125. Zlatnik, M. G. Endocrine‐disrupting chemicals and reproductive health. J. Midwifery Womens Health 61, 442–455 (2016). · DOI
  126. Kim, S. H. et al. Increased plasma levels of phthalate esters in women with advanced-stage endometriosis: a prospective case–control study. Fertil. Steril. 95, 357–359 (2011). · DOI
  127. Buck Louis, G. M., Smarr, M. M. & Patel, C. J. The exposome research paradigm: an opportunity to understand the environmental basis for human health and disease. Curr. Environ. Health Rep. 4, 89–98 (2017). · DOI
  128. Buffington, S. A. et al. Microbial reconstitution reverses maternal diet-induced social and synaptic deficits in offspring. Cell 165, 1762–1775 (2016). · DOI · Paper page
  129. Argaw-Denboba, A. et al. Paternal microbiome perturbations impact offspring fitness. Nature 629, 652–659 (2024). · DOI
  130. Trevisan, C. M., de Oliveira, R., Christofolini, D. M., Barbosa, C. P. & Bianco, B. Effects of a polymorphism in the promoter region of the follicle-stimulating hormone subunit β (FSHB) gene on female reproductive outcomes. Genet. Test. Mol. Biomarkers 23, 39–44 (2019). · DOI
  131. Pugsley, Z. & Ballard, K. Management of endometriosis in general practice: the pathway to diagnosis. Br. J. Gen. Pract. 57, 470–476 (2007).
  132. Lam, B. Y. H. et al. MC3R links nutritional state to childhood growth and the timing of puberty. Nature 599, 436–441 (2021). · DOI
  133. Harrison, P. W. et al. Ensembl 2024. Nucleic Acids Res. 52, D891–D899 (2024). · DOI · Paper page
  134. Layman, L. C. et al. Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone β-subunit gene. N. Engl. J. Med. 337, 607–611 (1997). · DOI
  135. Nagirnaja, L. et al. Genomics and genetics of gonadotropin β-subunit genes: unique FSHB and duplicated LHB/CGB loci. Mol. Cell. Endocrinol. 329, 4–16 (2010). · DOI
  136. Daoud, H. et al. Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay. J. Med. Genet. 53, 200–207 (2016). · DOI
  137. Ghosh, M. G., Thompson, D. A. & Weigel, R. J. PDZK1 and GREB1 are estrogen-regulated genes expressed in hormone-responsive breast cancer. Cancer Res. 60, 6367–6375 (2000).
  138. Horn, S. et al. TERT promoter mutations in familial and sporadic melanoma. Science 339, 959–961 (2013). · DOI · Paper page
  139. Beer, N. L. et al. The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver. Hum. Mol. Genet. 18, 4081–4088 (2009). · DOI · Paper page
  140. Rebouissou, S. et al. Germline hepatocyte nuclear factor 1α and 1β mutations in renal cell carcinomas. Hum. Mol. Genet. 14, 603–614 (2005). · DOI
  141. Tsukasaki, K. et al. Mutations in the mitotic check point gene, MAD1L1, in human cancers. Oncogene 20, 3301–3305 (2001). · DOI
  142. Villarroya-Beltri, C. et al. Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility. Sci. Adv. 8, eabq5914 (2022). · DOI
  143. Tenenbaum-Rakover, Y. et al. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. J. Med. Genet. 52, 391–399 (2015). · DOI
  144. Maffei, L. et al. Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment. J. Clin. Endocrinol. Metab. 89, 61–70 (2004). · DOI
  145. Tiulpakov, A. et al. A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome. J. Clin. Endocrinol. Metab. 90, 4184–4190 (2005). · DOI
  146. Izumiyama, T., Minoshima, S., Yoshida, T. & Shimizu, N. A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis. Gene 511, 202–217 (2012). · DOI
  147. Sailer, A. W. et al. Identification and characterization of a second melanin-concentrating hormone receptor, MCH-2R. Proc. Natl Acad. Sci. USA 98, 7564–7569 (2001). · DOI
  148. Huang, H., Rambaldi, I., Daniels, E. & Featherstone, M. Expression of the Wdr9 gene and protein products during mouse development. Dev. Dyn. 227, 608–614 (2003). · DOI
  149. Guo, T. et al. Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia. Hum. Genet. 140, 761–773 (2021). · DOI
  150. Shearman, A. M. et al. Association between estrogen receptor α gene variation and cardiovascular disease. JAMA 290, 2263–2270 (2003). · DOI
  151. Bernard, V. et al. Familial multiplicity of estrogen insensitivity associated with a loss-of-function ESR1 mutation. J. Clin. Endocr. Metab. 102, 93–99 (2017).
  152. Borck, G. et al. Homozygous truncating PTPRF mutation causes athelia. Hum. Genet. 133, 1041–1047 (2014). · DOI
  153. Nagaya, T., Nomura, Y., Fujieda, M. & Seo, H. Heterodimerization preferences of thyroid hormone receptor α isoforms. Biochem. Biophys. Res. Commun. 226, 426–430 (1996). · DOI
  154. Pickrell, J. K. et al. Detection and interpretation of shared genetic influences on 42 human traits. Nat. Genet. 48, 709–717 (2016). · DOI · Paper page
  155. Hu, Z. et al. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. Nat. Genet. 44, 183–186 (2011). · DOI
  156. Rahmioglu, N. et al. The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nat. Genet. 55, 423–436 (2023). · DOI
  157. Bovijn, J. et al. GWAS identifies risk locus for erectile dysfunction and implicates hypothalamic neurobiology and diabetes in etiology. Am. J. Hum. Genet. 104, 157–163 (2019). · DOI
  158. Laisk, T. et al. Large-scale meta-analysis highlights the hypothalamic–pituitary–gonadal axis in the genetic regulation of menstrual cycle length. Hum. Mol. Genet. 27, 4323–4332 (2018).
  159. Litchfield, K. et al. Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. Nat. Genet. 49, 1133–1140 (2017). · DOI
  160. Arnold, A. P., Klein, S. L., McCarthy, M. M. & Mogil, J. S. Male–female comparisons are powerful in biomedical research — don’t abandon them. Nature 629, 37–40 (2024). · DOI
  161. Velocci, B. The history of sex research: is ‘sex’ a useful category? Cell 187, 1343–1346 (2024). · DOI
  162. Volozonoka, L. et al. A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure. Reproduction 163, 351–363 (2022). · DOI
  163. Wang, J., Zhang, W., Jiang, H., Wu, B.-L. & Primary Ovarian Insufficiency Collaboration. Mutations in HFM1 in recessive primary ovarian insufficiency. N. Engl. J. Med. 370, 972–974 (2014). · DOI

Cited by

Sorted by citations

See all 23

Metadata

Authors
Benonisdottir, S., Straub, V. J., Kong, A., & Mills, M. C.
ORCID
Venue
Nature Aging
Publisher
Springer Science and Business Media LLC
Published
2024-12-13
Volume
4
Issue
12
Pages
1745-1759
ISSN
2662-8465
DOI
10.1038/s43587-024-00733-w
Cited by
23
References
24
Language
en
Update notices
correction (2025-01-02)
Licence

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review