2021
DOI: 10.1038/s41586-021-03779-7
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Genetic insights into biological mechanisms governing human ovarian ageing

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Cited by 254 publications
(227 citation statements)
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References 124 publications
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“…Furthermore, in our study the combined effect of ANM lowering SNPs was estimated to explain 30% of the variance in EM (Perry et al, 2013). Thus, ANM, EM and POI may have an overlapping polygenic etiology, with women with POI carrying more ANM lowering variants and representing the extreme of the trait (Day et al, 2015;Ruth et al, 2021). The enrichment of DDR genes in ANM, EM, and POI furthermore suggests that reproductive aging may be part of systemic aging, as accumulation of DNA damage has been shown to be a major driver of aging (López-Otín et al, 2013).…”
Section: Genetics Of Menopause Early Menopause and Poimentioning
confidence: 56%
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“…Furthermore, in our study the combined effect of ANM lowering SNPs was estimated to explain 30% of the variance in EM (Perry et al, 2013). Thus, ANM, EM and POI may have an overlapping polygenic etiology, with women with POI carrying more ANM lowering variants and representing the extreme of the trait (Day et al, 2015;Ruth et al, 2021). The enrichment of DDR genes in ANM, EM, and POI furthermore suggests that reproductive aging may be part of systemic aging, as accumulation of DNA damage has been shown to be a major driver of aging (López-Otín et al, 2013).…”
Section: Genetics Of Menopause Early Menopause and Poimentioning
confidence: 56%
“…Furthermore, five of the identified loci contain genes involved hypothalamic-pituitary function, including FSHB, suggesting also a neuro-endocrine component of ovarian aging (Day et al, 2015). In our latest GWAS in over 200,000 women of European ancestry, the number of ANM-genetic loci increased to 290 and strengthened the involvement of DDR pathways in the regulation of age of menopause (Ruth et al, 2021). These GWAS-ANM loci identified in women of European descent were also identified in cohorts of diverse ethnicities suggesting shared genetics in reproductive aging among ethnic groups (Chen et al, 2014;Fernández-Rhodes et al, 2018;Horikoshi et al, 2018;Zhang et al, 2021).…”
Section: Genetics Of Menopause Early Menopause and Poimentioning
confidence: 79%
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“…It remains to be determined whether the prediction of age at menopause, albeit with a range spanning several years, may ultimately be feasible in this group of women facing reproductive decisions at a relatively early age. Of note, AMH levels are reduced in girls with newly diagnosed cancer even before the cancer treatment has started and it is suggested that possibly in relation to this impaired DNA repair mechanisms are involved that also seem in part to be involved in determination of age at menopause (31)(32)(33).…”
Section: Iatrogenic Ovarian Reserve Impairmentmentioning
confidence: 99%