Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries.

ABSTRACT: Lack of diversity in human genomics limits our understanding of the genetic underpinnings of complex traits, hinders precision medicine, and contributes to health disparities. To map genetic effects on gene regulation in the underrepresented Indonesian population, we have integrated genotype, gene expression, and CpG methylation data from 115 participants across three island populations that capture the major sources of genomic diversity in the region. In a comparison with European datasets, we identify eQTLs shared between Indonesia and Europe as well as population-specific eQTLs that exhibit differences in allele frequencies and/or overall expression levels between populations. By combining local ancestry and archaic introgression inference with eQTLs and methylQTLs, we identify regulato

SUBMITTER: Natri HM 

PROVIDER: S-EPMC8764200 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature