Single locus theory of admixture is insufficient for the study of complex traits in admixed populations
medRxiv (Cold Spring Harbor Laboratory)(2024)
摘要
Admixed populations offer valuable insights into the genetic architecture of complex traits. Such an investigation demands a delicate theory that can handle the linkage disequilibrium structure of admixed genomes. With additional assumptions, we show that Pritchard-Stephens-Donnelly (PSD) can predict empirical GWAS findings. We call this the extended PSD (ePSD) model and evaluate the predictions using real data. When applied to real data of admixed genomes, the prediction of the ePSD model is very successful in explaining single-locus behaviors while falling short in predicting two-loci phenomena involving linkage disequilibrium. Our results show that a mosaic of independent single-continental segments is an insufficient approximation of contemporary admixed populations. A more advanced theory that better models linkage disequilibrium of admixed populations will be crucial to better understanding the genetic architecture of complex traits.
### Competing Interest Statement
The authors have declared no competing interest.
### Funding Statement
MD-PhD/Medical Scientist Training Program through the Korea Health Industry Development (KHDI), funded by the Ministry of Health and Welfare, Republic of Korea.
### Author Declarations
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All data produced in the present work are contained in the manuscript
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关键词
complex traits,single locus theory,admixture,populations
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