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@ARTICLE{Lacour:137838,
author = {Lacour, Andre and Schüller, Vitalia and Drichel, Dmitriy
and Herold, Christine and Jessen, Frank and Leber, Markus
and Maier, Wolfgang and Noethen, Markus M and Ramirez,
Alfredo and Vaitsiakhovich, Tatsiana and Becker, Tim},
title = {{N}ovel genetic matching methods for handling population
stratification in genome-wide association studies.},
journal = {BMC bioinformatics},
volume = {16},
number = {1},
issn = {1471-2105},
address = {Heidelberg},
publisher = {Springer},
reportid = {DZNE-2020-04160},
pages = {84},
year = {2015},
abstract = {A usually confronted problem in association studies is the
occurrence of population stratification. In this work, we
propose a novel framework to consider population matchings
in the contexts of genome-wide and sequencing association
studies. We employ pairwise and groupwise optimal
case-control matchings and present an agglomerative
hierarchical clustering, both based on a genetic similarity
score matrix. In order to ensure that the resulting matches
obtained from the matching algorithm capture correctly the
population structure, we propose and discuss two stratum
validation methods. We also invent a decisive extension to
the Cochran-Armitage Trend test to explicitly take into
account the particular population structure.We assess our
framework by simulations of genotype data under the null
hypothesis, to affirm that it correctly controls for the
type-1 error rate. By a power study we evaluate that
structured association testing using our framework displays
reasonable power. We compare our result with those obtained
from a logistic regression model with principal component
covariates. Using the principal components approaches we
also find a possible false-positive association to
Alzheimer's disease, which is neither supported by our new
methods, nor by the results of a most recent large meta
analysis or by a mixed model approach.Matching methods
provide an alternative handling of confounding due to
population stratification for statistical tests for which
covariates are hard to model. As a benchmark, we show that
our matching framework performs equally well to state of the
art models on common variants.},
keywords = {Alzheimer Disease: genetics / Case-Control Studies /
Cluster Analysis / Genetics, Population / Genome-Wide
Association Study: methods / Genotype / Humans / Logistic
Models / Population Groups},
cin = {GenomMathematik / AG Roes / AG Jessen},
ddc = {610},
cid = {I:(DE-2719)1013007 / I:(DE-2719)1610003 /
I:(DE-2719)1011102},
pnm = {345 - Population Studies and Genetics (POF3-345) / 344 -
Clinical and Health Care Research (POF3-344)},
pid = {G:(DE-HGF)POF3-345 / G:(DE-HGF)POF3-344},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:25880419},
pmc = {pmc:PMC4367953},
doi = {10.1186/s12859-015-0521-4},
url = {https://pub.dzne.de/record/137838},
}