Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians.

ABSTRACT: Statistical imputation applied to genome-wide array data is the most cost-effective approach to complete the catalog of genetic variation in a study population. However, imputed genotypes in underrepresented populations incur greater inaccuracies due to ascertainment bias and a lack of representation among reference individuals, further contributing to the obstacles to study these populations. Here we examined the consequences due to the lack of representation by genotyping in a large number of self-reported Native Hawaiians (N = 3693) a functionally important, Polynesian-specific variant in the CREBRF gene, rs373863828. We found the derived allele was significantly associated with several adiposity traits with large effects (e.g. ~ 1.28 kg/m2 per allele in body mass index as the most sign

SUBMITTER: Lin M 

PROVIDER: S-EPMC7399533 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature