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- Publisher Website: 10.1177/0962280216680243
- Scopus: eid_2-s2.0-85049874181
- PMID: 27920363
- WOS: WOS:000438616300006
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Article: Detection of imprinting effects for qualitative traits on X chromosome based on nuclear families
Title | Detection of imprinting effects for qualitative traits on X chromosome based on nuclear families |
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Authors | |
Keywords | Imprinting effects X chromosome qualitative trait nuclear family Turner’s syndrome |
Issue Date | 2018 |
Publisher | Sage Publications Ltd. The Journal's web site is located at http://smm.sagepub.com |
Citation | Statistical Methods in Medical Research, 2018, v. 27 n. 8, p. 2329-2343 How to Cite? |
Abstract | Methods for detecting imprinting effects have been developed primarily for autosomal markers. However, no method is available in the literature to test for imprinting effects on X chromosome. Therefore, it is necessary to suggest methods for detecting such imprinting effects. In this article, the parental-asymmetry test on X chromosome (XPAT) is first developed to test for imprinting for qualitative traits in the presence of association, based on family trios each with both parents and their affected daughter. Then, we propose 1-XPAT to deal with parent–daughter pairs, each with one parent and his/her affected daughter. By simultaneously considering family trios and parent–daughter pairs, C-XPAT (the combined test statistic of XPAT and 1-XPAT) is constructed to test for imprinting. Further, we extend the proposed methods to accommodate complete (with both parents) and incomplete (with one parent) nuclear families having multiple daughters of which at least one is affected. Simulation results demonstrate that the proposed methods control the size well, irrespective of the inbreeding coefficient in females being zero or non-zero. By incorporating incomplete nuclear families, C-XPAT is more powerful than XPAT using only complete nuclear families. For practical use, these proposed methods are applied to analyse the rheumatoid arthritis data and Turner’s syndrome data. |
Persistent Identifier | http://hdl.handle.net/10722/272976 |
ISSN | 2023 Impact Factor: 1.6 2023 SCImago Journal Rankings: 1.235 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Zhou, JY | - |
dc.contributor.author | You, XP | - |
dc.contributor.author | Yang, R | - |
dc.contributor.author | Fung, WK | - |
dc.date.accessioned | 2019-08-06T09:20:14Z | - |
dc.date.available | 2019-08-06T09:20:14Z | - |
dc.date.issued | 2018 | - |
dc.identifier.citation | Statistical Methods in Medical Research, 2018, v. 27 n. 8, p. 2329-2343 | - |
dc.identifier.issn | 0962-2802 | - |
dc.identifier.uri | http://hdl.handle.net/10722/272976 | - |
dc.description.abstract | Methods for detecting imprinting effects have been developed primarily for autosomal markers. However, no method is available in the literature to test for imprinting effects on X chromosome. Therefore, it is necessary to suggest methods for detecting such imprinting effects. In this article, the parental-asymmetry test on X chromosome (XPAT) is first developed to test for imprinting for qualitative traits in the presence of association, based on family trios each with both parents and their affected daughter. Then, we propose 1-XPAT to deal with parent–daughter pairs, each with one parent and his/her affected daughter. By simultaneously considering family trios and parent–daughter pairs, C-XPAT (the combined test statistic of XPAT and 1-XPAT) is constructed to test for imprinting. Further, we extend the proposed methods to accommodate complete (with both parents) and incomplete (with one parent) nuclear families having multiple daughters of which at least one is affected. Simulation results demonstrate that the proposed methods control the size well, irrespective of the inbreeding coefficient in females being zero or non-zero. By incorporating incomplete nuclear families, C-XPAT is more powerful than XPAT using only complete nuclear families. For practical use, these proposed methods are applied to analyse the rheumatoid arthritis data and Turner’s syndrome data. | - |
dc.language | eng | - |
dc.publisher | Sage Publications Ltd. The Journal's web site is located at http://smm.sagepub.com | - |
dc.relation.ispartof | Statistical Methods in Medical Research | - |
dc.rights | Statistical Methods in Medical Research. Copyright © Sage Publications Ltd. | - |
dc.rights | Copyright © [year] (Copyright Holder). DOI: [DOI number] | - |
dc.subject | Imprinting effects | - |
dc.subject | X chromosome | - |
dc.subject | qualitative trait | - |
dc.subject | nuclear family | - |
dc.subject | Turner’s syndrome | - |
dc.title | Detection of imprinting effects for qualitative traits on X chromosome based on nuclear families | - |
dc.type | Article | - |
dc.identifier.email | Fung, WK: wingfung@hkucc.hku.hk | - |
dc.identifier.authority | Fung, WK=rp00696 | - |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1177/0962280216680243 | - |
dc.identifier.pmid | 27920363 | - |
dc.identifier.scopus | eid_2-s2.0-85049874181 | - |
dc.identifier.hkuros | 300032 | - |
dc.identifier.volume | 27 | - |
dc.identifier.issue | 8 | - |
dc.identifier.spage | 2329 | - |
dc.identifier.epage | 2343 | - |
dc.identifier.isi | WOS:000438616300006 | - |
dc.publisher.place | United Kingdom | - |
dc.identifier.issnl | 0962-2802 | - |