Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya.

ABSTRACT:

Background

The relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past association studies yielding inconsistent and conflicting results. One possibility is that examination of a single genetic variant might underestimate the presence of true effects in the presence of unrecognized functional allelic diversity.

Methods

We systematically examined this possibility in Kenya, conducting a fine-mapping association study of erythrocyte G6PD activity in 1828 Kenyan children across 30 polymorphisms at or around the G6PD locus.

Results

We demonstrate a strong functional role for c.202G>A (rs1050828), which accounts for the majority of vari

SUBMITTER: Shah SS 

PROVIDER: S-EPMC4236593 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature