Browse

Adjusting heterogeneous ascertainment bias for genetic association analysis with extended families

Cited 4 time in Web of Science Cited 5 time in Scopus
Authors
Park, Suyeon; Lee, Sungyoung; Lee, Young; Herold, Christine; Hooli, Basavaraj; Mullin, Kristina; Park, Taesung; Park, Changsoon; Bertram, Lars; Lange, Christoph; Tanzi, Rudolph; Won, Sungho
Issue Date
2015-08-19
Publisher
BioMed Central
Citation
BMC Medical Genetics, 16(1):62
Keywords
Family-based association analysisAscertainmentLiability model
Abstract
Background
In family-based association analysis, each family is typically ascertained from a single proband, which renders the effects of ascertainment bias heterogeneous among family members. This is contrary to case–control studies, and may introduce sample or ascertainment bias. Statistical efficiency is affected by ascertainment bias, and careful adjustment can lead to substantial improvements in statistical power. However, genetic association analysis has often been conducted using family-based designs, without addressing the fact that each proband in a family has had a great influence on the probability for each family member to be affected.

Method
We propose a powerful and efficient statistic for genetic association analysis that considered the heterogeneity of ascertainment bias among family members, under the assumption that both prevalence and heritability of disease are available. With extensive simulation studies, we showed that the proposed method performed better than the existing methods, particularly for diseases with large heritability.

Results
We applied the proposed method to the genome-wide association analysis of Alzheimer’s disease. Four significant associations with the proposed method were found.

Conclusion
Our significant findings illustrated the practical importance of this new analysis method.
Language
English
URI
http://hdl.handle.net/10371/109776
DOI
https://doi.org/10.1186/s12881-015-0198-6
Files in This Item:
Appears in Collections:
Graduate School of Public Health (보건대학원)Dept. of Public Health (보건학과)Journal Papers (저널논문_보건학과)
  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse