Liu, WeiWang, Bei-QiLiu-Fu, GuojunFung, Wing KamZhou, Ji-Yuan2020-11-182020-11-182019-11Liu 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: 1-120022-13330973-7731http://imsear.searo.who.int/handle/123456789/215392Studies 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.association testgenomic imprintingX-chromosome inactivation.Journal ArticleIndiaState 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 ChinaFaculty of Science, Department of Statistics and Actuarial Science, The University of Hong Kong, Pok Fu Lam, Hong Kong, People’s Republic of China