FARVATX: Family-Based Rare Variant Association Test for X-Linked Genes
- Authors
- Choi, Sungkyoung; Lee, Sungyoung; Qiao, Dandi; Hardin, Megan; Cho, Michael H.; Silverman, Edwin K.; Park, Taesung; Won, Sungho
- Issue Date
- Sep-2016
- Publisher
- John Wiley & Sons Inc.
- Keywords
- X chromosome; X chromosome inactivation; extended families; rare variants; genetic association analysis
- Citation
- Genetic Epidemiology, v.40, no.6, pp.475 - 485
- Indexed
- SCIE
SCOPUS
- Journal Title
- Genetic Epidemiology
- Volume
- 40
- Number
- 6
- Start Page
- 475
- End Page
- 485
- URI
- https://scholarworks.bwise.kr/erica/handle/2021.sw.erica/13084
- DOI
- 10.1002/gepi.21979
- ISSN
- 0741-0395
- Abstract
- Although the X chromosome has many genes that are functionally related to human diseases, the complicated biological properties of the X chromosome have prevented efficient genetic association analyses, and only a few significantly associated X-linked variants have been reported for complex traits. For instance, dosage compensation of X-linked genes is often achieved via the inactivation of one allele in each X-linked variant in females; however, some X-linked variants can escape this X chromosome inactivation. Efficient genetic analyses cannot be conducted without prior knowledge about the gene expression process of X-linked variants, and misspecified information can lead to power loss. In this report, we propose new statistical methods for rare X-linked variant genetic association analysis of dichotomous phenotypes with family-based samples. The proposed methods are computationally efficient and can complete X-linked analyses within a few hours. Simulation studies demonstrate the statistical efficiency of the proposed methods, which were then applied to rare-variant association analysis of the X chromosome in chronic obstructive pulmonary disease. Some promising significant X-linked genes were identified, illustrating the practical importance of the proposed methods. (C) 2016 Wiley Periodicals, Inc.
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