DKFZ 4 records found  Search took 0.00 seconds. 
[DKFZ-2021-01834] Journal Article
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Genetic insights into biological mechanisms governing human ovarian ageing.
Nature <London> 596(7872), 393-397 () [10.1038/s41586-021-03779-7]  GO
Reproductive longevity is essential for fertility and influences healthy ageing in women1,2, but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at natural menopause (ANM) in about 200,000 women of European ancestry. [...]
DBCoverage [DKFZ-2017-03067] Journal Article
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Rare coding variants and X-linked loci associated with age at menarche.
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. [...]
pmc [DKFZ-2017-02437] Journal Article
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Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Nature genetics 47(11), 1294 - 1303 () [10.1038/ng.3412]  GO
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). [...]
[DKFZ-2017-01221] Journal Article
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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.
Nature genetics 49(6), 834 - 841 () [10.1038/ng.3841]  GO
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P < 5 × 10(-8)) for age at menarche, a milestone in female pubertal development. [...]

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