Publication: A population survey of the glucose-6-phosphate dehydrogenase (G6PD) 563C>T (Mediterranean) mutation in Afghanistan
Accepted Date
2014-01-12
Issued Date
2014-02-21
Copyright Date
2014
Resource Type
Language
eng
ISSN
1932-6203 (electronic)
Rights
Mahidol University
Rights Holder(s)
PLoS ONE
Bibliographic Citation
Jamornthanyawat N, Awab GR, Tanomsing N, Pukrittayakamee S, Yamin F, Dondorp AM, et al. A population survey of the glucose-6-phosphate dehydrogenase (G6PD) 563C>T (Mediterranean) mutation in Afghanistan. PLoS One. 2014 Feb 21;9(2):e88605.
Suggested Citation
Natsuda Jamornthanyawat, นาถสุดา จามรธัญญวาท, Awab, Ghulam R., Naowarat Tanomsing, เนาวรัตน์ ถนอมสิงห์, Sasithon Pukrittayakamee, ศศิธร ผู้กฤตยาคามี, Yamin, Fazel, Dondorp, Arjen M., Day, Nicholas P. J., White, Nicholas J., Woodrow, Charles J., Mallika Imwong, มัลลิกา อิ่มวงศ์ A population survey of the glucose-6-phosphate dehydrogenase (G6PD) 563C>T (Mediterranean) mutation in Afghanistan. Jamornthanyawat N, Awab GR, Tanomsing N, Pukrittayakamee S, Yamin F, Dondorp AM, et al. A population survey of the glucose-6-phosphate dehydrogenase (G6PD) 563C>T (Mediterranean) mutation in Afghanistan. PLoS One. 2014 Feb 21;9(2):e88605.. doi:10.1371/journal.pone.0088605 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/664
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
A population survey of the glucose-6-phosphate dehydrogenase (G6PD) 563C>T (Mediterranean) mutation in Afghanistan
Corresponding Author(s)
Other Contributor(s)
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzyme
defect and an important problem in areas with Plasmodium vivax infection because
of the risk of haemolysis following administration of primaquine to treat the
liver forms of the parasite. We undertook a genotypic survey of 713 male
individuals across nine provinces of Afghanistan in which malaria is found, four
in the north and five in the east. RFLP typing at nucleotide position 563
detected 40 individuals with the Mediterranean mutation 563C>T, an overall
prevalence of 5.6%. This varied according to self-reported ethnicity, with
prevalence in the Pashtun/Pashai group of 33/369 (8.9%) compared to 7/344
individuals in the rest of the population (2.0%; p<0.001, Chi-squared test).
Multivariate analysis of ethnicity and geographical location indicated an
adjusted odds ratio of 3.50 (95% CI 1.36-9.02) for the Pashtun/Pashai group,
while location showed only a trend towards higher prevalence in eastern provinces
(adjusted odds ratio = 1.73, 0.73-4.13). Testing of known polymorphic markers
(1311C>T in exon 11, and C93T in intron XI) in a subset of 82 individuals
wild-type at C563 revealed a mixture of 3 haplotypes in the background population
and was consistent with data from the 1000 Genomes Project and published studies.
By comparison individuals with G6PD deficiency showed a highly skewed haplotype
distribution, with 95% showing the CT haplotype, a finding consistent with
relatively recent appearance and positive selection of the Mediterranean variant
in Afghanistan. Overall, the data confirm that the Mediterranean variant of G6PD
is common in many ethnic groups in Afghanistan, indicating that screening for
G6PD deficiency is required in all individuals before radical treatment of P.
vivax with primaquine.