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- Publisher Website: 10.1007/s12041-019-1146-6
- Scopus: eid_2-s2.0-85074714479
- PMID: 31767819
- WOS: WOS:000494438600002
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Article: X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects
Title | X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects |
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Authors | |
Keywords | association test genomic imprinting X-chromosome inactivation |
Issue Date | 2019 |
Publisher | Springer Verlag, co-published with Indian Academy of Sciences. The Journal's web site is located at http://www.ias.ac.in/jgenet/index.html |
Citation | Journal of Genetics, 2019, v. 98, p. article no. 99 How to Cite? |
Abstract | Studies have shown that many complex diseases are sex-determined. When conducting genetic association studies on X-chromosome, there are two important epigenetic factors which should be considered simultaneously: X-chromosome inactivation and genomic imprinting. Currently, there have been several association tests accounting for the information on X-chromosome inactivation. However, these tests do not take the imprinting effects into account. In this paper, we propose a novel association test simultaneously incorporating X-chromosome inactivation and imprinting effects based on case–parent trios and control–parent trios for female offspring and case–control data for male offspring, denoted by MLRXCII. Extensive simulation studies are carried out to investigate the type I error rate and the test power of the proposed MLRXCII. Simulation results demonstrate that the proposed test controls the type I error rate well and is more powerful than the existing method when imprinting effects exist. The proposed MLRXCII test is valid and powerful in genetic association studies on X-chromosome for qualitative traits and thus is recommended in practice. |
Persistent Identifier | http://hdl.handle.net/10722/288169 |
ISSN | 2023 Impact Factor: 1.4 2023 SCImago Journal Rankings: 0.392 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Wei, L | - |
dc.contributor.author | Wang, BQ | - |
dc.contributor.author | Liu-fu, G | - |
dc.contributor.author | Fung, TWK | - |
dc.contributor.author | Zhou, JY | - |
dc.date.accessioned | 2020-10-05T12:08:53Z | - |
dc.date.available | 2020-10-05T12:08:53Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | Journal of Genetics, 2019, v. 98, p. article no. 99 | - |
dc.identifier.issn | 0022-1333 | - |
dc.identifier.uri | http://hdl.handle.net/10722/288169 | - |
dc.description.abstract | Studies have shown that many complex diseases are sex-determined. When conducting genetic association studies on X-chromosome, there are two important epigenetic factors which should be considered simultaneously: X-chromosome inactivation and genomic imprinting. Currently, there have been several association tests accounting for the information on X-chromosome inactivation. However, these tests do not take the imprinting effects into account. In this paper, we propose a novel association test simultaneously incorporating X-chromosome inactivation and imprinting effects based on case–parent trios and control–parent trios for female offspring and case–control data for male offspring, denoted by MLRXCII. Extensive simulation studies are carried out to investigate the type I error rate and the test power of the proposed MLRXCII. Simulation results demonstrate that the proposed test controls the type I error rate well and is more powerful than the existing method when imprinting effects exist. The proposed MLRXCII test is valid and powerful in genetic association studies on X-chromosome for qualitative traits and thus is recommended in practice. | - |
dc.language | eng | - |
dc.publisher | Springer Verlag, co-published with Indian Academy of Sciences. The Journal's web site is located at http://www.ias.ac.in/jgenet/index.html | - |
dc.relation.ispartof | Journal of Genetics | - |
dc.rights | This is a post-peer-review, pre-copyedit version of an article published in [insert journal title]. The final authenticated version is available online at: https://doi.org/[insert DOI] | - |
dc.subject | association test | - |
dc.subject | genomic imprinting | - |
dc.subject | X-chromosome inactivation | - |
dc.title | X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects | - |
dc.type | Article | - |
dc.identifier.email | Fung, TWK: wingfung@hkucc.hku.hk | - |
dc.identifier.authority | Fung, TWK=rp00696 | - |
dc.description.nature | link_to_OA_fulltext | - |
dc.identifier.doi | 10.1007/s12041-019-1146-6 | - |
dc.identifier.pmid | 31767819 | - |
dc.identifier.scopus | eid_2-s2.0-85074714479 | - |
dc.identifier.hkuros | 315179 | - |
dc.identifier.volume | 98 | - |
dc.identifier.spage | article no. 99 | - |
dc.identifier.epage | article no. 99 | - |
dc.identifier.isi | WOS:000494438600002 | - |
dc.publisher.place | India | - |
dc.identifier.issnl | 0022-1333 | - |