X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects

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dc.contributor.authorLiu, Weien_US
dc.contributor.authorWang, Bei-Qien_US
dc.contributor.authorLiu-Fu, Guojunen_US
dc.contributor.authorFung, Wing Kamen_US
dc.contributor.authorZhou, Ji-Yuanen_US
dc.date.accessioned2020-11-18T10:20:46Z
dc.date.available2020-11-18T10:20:46Z
dc.date.issued2019-11
dc.description.abstractStudies have shown that many complex diseases are sex-determined. When conducting genetic association studies on Xchromosome, 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 andis 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.en_US
dc.identifier.affiliationsState Key Laboratory of Organ Failure Research, Ministry of Education, and Guangdong Provincial Key Laboratory of Tropical Disease Research, Department of Biostatistics, School of Public Health, Southern Medical University, Guangzhou 510515, Guangdong, People’s Republic of Chinaen_US
dc.identifier.affiliationsFaculty of Science, Department of Statistics and Actuarial Science, The University of Hong Kong, Pok Fu Lam, Hong Kong, People’s Republic of Chinaen_US
dc.identifier.citationLiu Wei, Wang Bei-Qi, Liu-Fu Guojun, Fung Wing Kam, Zhou Ji-Yuan. X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects. Journal of Genetics. 2019 Nov; 98: 1-12en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215392
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume98en_US
dc.source.urihttps://doi.org/10.1007/s12041-019-1146-6en_US
dc.subjectassociation testen_US
dc.subjectgenomic imprintingen_US
dc.subjectX-chromosome inactivation.en_US
dc.titleX-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effectsen_US
dc.typeJournal Articleen_US
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