Impact of Population Stratification on Family-Based Association in an Admixed Population

T. B. Mersha; L. Ding; H. He; E. S. Alexander; X. Zhang; B. G. Kurowski; V. Pilipenko; L. Kottyan; L. J. Martin; D. W. Fardo

doi:10.1155/2015/501617

Impact of Population Stratification on Family-Based Association in an Admixed Population

T. B. Mersha, L. Ding, H. He, E. S. Alexander, X. Zhang, B. G. Kurowski, V. Pilipenko, L. Kottyan, L. J. Martin, D. W. Fardo

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Population substructure is a well-known confounder in population-based case-control genetic studies, but its impact in family-based studies is unclear. We performed population substructure analysis using extended families of admixed population to evaluate power and Type I error in an association study framework. Our analysis shows that power was improved by 1.5% after principal components adjustment. Type I error was also reduced by 2.2% after adjusting for family substratification. The presence of population substructure was underscored by discriminant analysis, in which over 92% of individuals were correctly assigned to their actual family using only 100 principal components. This study demonstrates the importance of adjusting for population substructure in family-based studies of admixed populations.

Original language	English
Article number	501617
Journal	International Journal of Genomics
Volume	2015
DOIs	https://doi.org/10.1155/2015/501617
State	Published - 2015

Bibliographical note

Publisher Copyright:
© 2015 T. B. Mersha et al.

Funding

Funders	Funder number
National Institutes of Health (NIH)	K23HD074683, U01 DK085584, R01 DK047482, U01 DK085524, U01 DK085501, U01 DK085545, K01HL103165, P01 HL045222, K25AG043546, R01 DK053889, R01 GM031575, U01 DK085526

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics
Pharmaceutical Science

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abstract = "Population substructure is a well-known confounder in population-based case-control genetic studies, but its impact in family-based studies is unclear. We performed population substructure analysis using extended families of admixed population to evaluate power and Type I error in an association study framework. Our analysis shows that power was improved by 1.5% after principal components adjustment. Type I error was also reduced by 2.2% after adjusting for family substratification. The presence of population substructure was underscored by discriminant analysis, in which over 92% of individuals were correctly assigned to their actual family using only 100 principal components. This study demonstrates the importance of adjusting for population substructure in family-based studies of admixed populations.",

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AU - Mersha, T. B.

AU - Ding, L.

AU - He, H.

AU - Alexander, E. S.

AU - Zhang, X.

AU - Kurowski, B. G.

AU - Pilipenko, V.

AU - Kottyan, L.

AU - Martin, L. J.

AU - Fardo, D. W.

PY - 2015

Y1 - 2015

N2 - Population substructure is a well-known confounder in population-based case-control genetic studies, but its impact in family-based studies is unclear. We performed population substructure analysis using extended families of admixed population to evaluate power and Type I error in an association study framework. Our analysis shows that power was improved by 1.5% after principal components adjustment. Type I error was also reduced by 2.2% after adjusting for family substratification. The presence of population substructure was underscored by discriminant analysis, in which over 92% of individuals were correctly assigned to their actual family using only 100 principal components. This study demonstrates the importance of adjusting for population substructure in family-based studies of admixed populations.

AB - Population substructure is a well-known confounder in population-based case-control genetic studies, but its impact in family-based studies is unclear. We performed population substructure analysis using extended families of admixed population to evaluate power and Type I error in an association study framework. Our analysis shows that power was improved by 1.5% after principal components adjustment. Type I error was also reduced by 2.2% after adjusting for family substratification. The presence of population substructure was underscored by discriminant analysis, in which over 92% of individuals were correctly assigned to their actual family using only 100 principal components. This study demonstrates the importance of adjusting for population substructure in family-based studies of admixed populations.

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Impact of Population Stratification on Family-Based Association in an Admixed Population

Abstract

Bibliographical note

Funding

ASJC Scopus subject areas

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