Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility
There is substantial genetic variation for common traits associated with reproductive lifespan and for common diseases influencing female fertility. Progress in high-throughput sequencing and genome-wide association studies (GWAS) have transformed our understanding of common genetic risk factors for...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-03-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/5/2556 |
| _version_ | 1797414737829429248 |
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| author | Isabelle M. McGrath Sally Mortlock Grant W. Montgomery |
| author_facet | Isabelle M. McGrath Sally Mortlock Grant W. Montgomery |
| author_sort | Isabelle M. McGrath |
| collection | DOAJ |
| description | There is substantial genetic variation for common traits associated with reproductive lifespan and for common diseases influencing female fertility. Progress in high-throughput sequencing and genome-wide association studies (GWAS) have transformed our understanding of common genetic risk factors for complex traits and diseases influencing reproductive lifespan and fertility. The data emerging from GWAS demonstrate the utility of genetics to explain epidemiological observations, revealing shared biological pathways linking puberty timing, fertility, reproductive ageing and health outcomes. The observations also identify unique genetic risk factors specific to different reproductive diseases impacting on female fertility. Sequencing in patients with primary ovarian insufficiency (POI) have identified mutations in a large number of genes while GWAS have revealed shared genetic risk factors for POI and ovarian ageing. Studies on age at menopause implicate DNA damage/repair genes with implications for follicle health and ageing. In addition to the discovery of individual genes and pathways, the increasingly powerful studies on common genetic risk factors help interpret the underlying relationships and direction of causation in the regulation of reproductive lifespan, fertility and related traits. |
| first_indexed | 2024-03-09T05:37:54Z |
| format | Article |
| id | doaj.art-9ec35ac67f754b3490e5036ca9b5fa54 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T05:37:54Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-9ec35ac67f754b3490e5036ca9b5fa542023-12-03T12:27:25ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-03-01225255610.3390/ijms22052556Genetic Regulation of Physiological Reproductive Lifespan and Female FertilityIsabelle M. McGrath0Sally Mortlock1Grant W. Montgomery2Institute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, St Lucia, QLD 4072, AustraliaInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, St Lucia, QLD 4072, AustraliaInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, St Lucia, QLD 4072, AustraliaThere is substantial genetic variation for common traits associated with reproductive lifespan and for common diseases influencing female fertility. Progress in high-throughput sequencing and genome-wide association studies (GWAS) have transformed our understanding of common genetic risk factors for complex traits and diseases influencing reproductive lifespan and fertility. The data emerging from GWAS demonstrate the utility of genetics to explain epidemiological observations, revealing shared biological pathways linking puberty timing, fertility, reproductive ageing and health outcomes. The observations also identify unique genetic risk factors specific to different reproductive diseases impacting on female fertility. Sequencing in patients with primary ovarian insufficiency (POI) have identified mutations in a large number of genes while GWAS have revealed shared genetic risk factors for POI and ovarian ageing. Studies on age at menopause implicate DNA damage/repair genes with implications for follicle health and ageing. In addition to the discovery of individual genes and pathways, the increasingly powerful studies on common genetic risk factors help interpret the underlying relationships and direction of causation in the regulation of reproductive lifespan, fertility and related traits.https://www.mdpi.com/1422-0067/22/5/2556<b>Keywords: </b>reproductive lifespanfertilitygenetic variationFSHAMHmenopause |
| spellingShingle | Isabelle M. McGrath Sally Mortlock Grant W. Montgomery Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility International Journal of Molecular Sciences <b>Keywords: </b>reproductive lifespan fertility genetic variation FSH AMH menopause |
| title | Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility |
| title_full | Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility |
| title_fullStr | Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility |
| title_full_unstemmed | Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility |
| title_short | Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility |
| title_sort | genetic regulation of physiological reproductive lifespan and female fertility |
| topic | <b>Keywords: </b>reproductive lifespan fertility genetic variation FSH AMH menopause |
| url | https://www.mdpi.com/1422-0067/22/5/2556 |
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