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Article: Genetics of age at menarche: A systematic review

TitleGenetics of age at menarche: A systematic review
Authors
KeywordsAge at menarche
Association study
Complex trait
Genetic variants
Linkage analysis
Issue Date2012
PublisherOxford University Press. The Journal's web site is located at http://humupd.oxfordjournals.org
Citation
Human Reproduction Update, 2012, v. 18 n. 2, p. 198-210 How to Cite?
AbstractBackground: Menarche is the first menstrual period of a girl at puberty. The timing of menarche is important for health in later life. Age at menarche is a complex trait and has a strong genetic component. This review summarizes the results of the genetic studies of age at menarche conducted to date, highlights existing problems in this area and outlines prospects of future studies on genetic factors for the trait. Methods: PubMed and Google Scholar were searched until May 2011 using the keywords: 'menarche', 'puberty' and 'age at menarche' in combination with the keywords 'polymorphism', 'candidate gene', 'genome-wide association study' and 'linkage'. Results: Our search yielded 170 papers, 35 of which were selected for further analysis. Several large-scale genome-wide association studies along with a powerful meta-analysis of their aggregated data identified about 50 candidate genes for the trait. Some genes were replicated in different studies of Caucasians (e.g. LIN28B, TMEM38B) or in different ethnicities (e.g. SPOCK, RANK and RANKL). However, despite the large volume of results obtained, there is a huge gap in relevant data on ethnic groups other than Caucasians. Conclusions: The reviewed studies laid a solid basis for future research on genetics of age at menarche. However, as yet specific genes for this trait have not been identified consistently in all ethnicities and types of studies. We suggest expanding the research to different ethnicities and propose several methodologies to increase the efficiency of studies in this area, including a systems approach, which combines existing high-throughput methods in a single pipeline. © The Author 2012. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/146036
ISSN
2015 Impact Factor: 11.194
2015 SCImago Journal Rankings: 4.678
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorDvornyk, Ven_HK
dc.contributor.authorul-Haq, Wen_HK
dc.date.accessioned2012-03-27T09:07:32Z-
dc.date.available2012-03-27T09:07:32Z-
dc.date.issued2012en_HK
dc.identifier.citationHuman Reproduction Update, 2012, v. 18 n. 2, p. 198-210en_HK
dc.identifier.issn1355-4786en_HK
dc.identifier.urihttp://hdl.handle.net/10722/146036-
dc.description.abstractBackground: Menarche is the first menstrual period of a girl at puberty. The timing of menarche is important for health in later life. Age at menarche is a complex trait and has a strong genetic component. This review summarizes the results of the genetic studies of age at menarche conducted to date, highlights existing problems in this area and outlines prospects of future studies on genetic factors for the trait. Methods: PubMed and Google Scholar were searched until May 2011 using the keywords: 'menarche', 'puberty' and 'age at menarche' in combination with the keywords 'polymorphism', 'candidate gene', 'genome-wide association study' and 'linkage'. Results: Our search yielded 170 papers, 35 of which were selected for further analysis. Several large-scale genome-wide association studies along with a powerful meta-analysis of their aggregated data identified about 50 candidate genes for the trait. Some genes were replicated in different studies of Caucasians (e.g. LIN28B, TMEM38B) or in different ethnicities (e.g. SPOCK, RANK and RANKL). However, despite the large volume of results obtained, there is a huge gap in relevant data on ethnic groups other than Caucasians. Conclusions: The reviewed studies laid a solid basis for future research on genetics of age at menarche. However, as yet specific genes for this trait have not been identified consistently in all ethnicities and types of studies. We suggest expanding the research to different ethnicities and propose several methodologies to increase the efficiency of studies in this area, including a systems approach, which combines existing high-throughput methods in a single pipeline. © The Author 2012. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.en_HK
dc.languageengen_US
dc.publisherOxford University Press. The Journal's web site is located at http://humupd.oxfordjournals.orgen_HK
dc.relation.ispartofHuman Reproduction Updateen_HK
dc.rightsPre-print: Journal Title] ©: [year] [owner as specified on the article] Published by Oxford University Press [on behalf of xxxxxx]. All rights reserved. Pre-print (Once an article is published, preprint notice should be amended to): This is an electronic version of an article published in [include the complete citation information for the final version of the Article as published in the print edition of the Journal.] Post-print: This is a pre-copy-editing, author-produced PDF of an article accepted for publication in [insert journal title] following peer review. The definitive publisher-authenticated version [insert complete citation information here] is available online at: xxxxxxx [insert URL that the author will receive upon publication here].en_US
dc.subjectAge at menarcheen_HK
dc.subjectAssociation studyen_HK
dc.subjectComplex traiten_HK
dc.subjectGenetic variantsen_HK
dc.subjectLinkage analysisen_HK
dc.titleGenetics of age at menarche: A systematic reviewen_HK
dc.typeArticleen_HK
dc.identifier.emailDvornyk, V: dvornyk@hku.hken_HK
dc.identifier.authorityDvornyk, V=rp00693en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1093/humupd/dmr050en_HK
dc.identifier.scopuseid_2-s2.0-84857546191en_HK
dc.identifier.hkuros198974en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84857546191&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume18en_HK
dc.identifier.issue2en_HK
dc.identifier.spage198en_HK
dc.identifier.epage210en_HK
dc.identifier.eissn1460-2369-
dc.identifier.isiWOS:000300722000006-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridDvornyk, V=6701789786en_HK
dc.identifier.scopusauthoridWaqarulHaq=55033960100en_HK
dc.identifier.citeulike10326974-

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