Haplotype heterogeneity and low linkage disequilibrium reduce reliable prediction of genotypes for the ‑α ^3.7I form of α-thalassaemia using genome-wide microarray data.

ABSTRACT: Background: The -α ^3.7I-thalassaemia deletion is very common throughout Africa because it protects against malaria. When undertaking studies to investigate human genetic adaptations to malaria or other diseases, it is important to account for any confounding effects of α-thalassaemia to rule out spurious associations. Methods: In this study, we have used direct α-thalassaemia genotyping to understand why GWAS data from a large malaria association study in Kilifi Kenya did not identify the α-thalassaemia signal. We then explored the potential use of a number of new approaches to using GWAS data for imputing α-thalassaemia as an alternative to direct genotyping by PCR. Results: We found very low linkage-disequilibrium of the directly typed data with the GWAS S

SUBMITTER: Ndila CM 

PROVIDER: S-EPMC8474104 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature