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

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Shah, Shivang S ^a,e   Macharia, Alex ^b   Makale, Johnstone ^b   Uyoga, Sophie ^b   Kivinen, Katja ^c   Craik, Rachel ^a   Hubbart, Christina ^a   Wellems, Thomas E ^e   Rockett, Kirk A ^a   Kwiatkowski, Dominic P ^a,c   Williams, Thomas N ^b,d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b KENYA MEDICAL RESEARCH INSTITUTE   (Kenya)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

Author keywords

G6PD deficiency; Malaria

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE; HEMOGLOBIN;

ARTICLE; CONTROLLED STUDY; DNA TEMPLATE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HAPLOTYPE; HEMIZYGOTE; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; KENYA; MALE; NONHUMAN; PHENOTYPE; PREVALENCE; PROTEIN STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; CHROMOSOME MAP; COHORT ANALYSIS; DNA SEQUENCE; ENZYMOLOGY; GENETICS; METABOLISM; ODDS RATIO; PATHOLOGY;

ALLELES; CHROMOSOME MAPPING; COHORT STUDIES; ERYTHROCYTES; FEMALE; GENETIC LOCI; GENETIC VARIATION; GENOTYPE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HAPLOTYPES; HETEROZYGOTE; HUMANS; INFANT; KENYA; MALE; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84908106305     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-014-0093-6     Document Type: Article

References (25)

1. Guindo A, Fairhurst RM, Doumbo OK, Wellems TE, Diallo DA. X-linked G6PD deficiency protects hemizygous males but not heterozygous females against severe malaria. PLoS Med 2007, 4(3):66. 10.1371/journal.pmed.0040066.
2. Bienzle U, Ayeni O, Lucas A, Luzzatto L. Glucose-6-phosphate dehydrogenase and malaria. Greater resistance of females heterozygous for enzyme deficiency and of males with non-deficient variant. Lancet 1972, 1(7742):107. 10.1016/S0140-6736(72)90676-9, 4108978.
3. Ruwende C, Khoo SC, Snow RW, Yates SN, Kwiatkowski D, Gupta S, Warn P, Allsopp CE, Gilbert SC, Peschu N. Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature 1995, 376(6537):246-249. 10.1038/376246a0, 7617034.
4. Clark T, Fry A, Auburn S, Campino S, Diakite M, Green A, Richardson A, Teo Y, Small K, Wilson J, Jallow M, Sisay-Joof F, Pinder M, Sabeti P, Kwiatkowski D, Rockett K. Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility. Eur J Hum Genet 2009, 17(8):1080-1085. 10.1038/ejhg.2009.8, 19223928.
5. Jallow M, Teo Y, Small K, Rockett K, Deloukas P, Clark T, Kivinen K, Bojang K, Conway D, Pinder M, Sirugo G, Sisay-Joof F, Usen S, Auburn S, Bumpstead S, Campino S, Coffey A, Dunham A, Fry A, Green A, Gwilliam R, Hunt S, Inouye M, Jeffreys A, Mendy A, Palotie A, Potter S, Ragoussis J, Rogers J, Rowlands K, et al. Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet 2009, 41(6):657-665. 10.1038/ng.388, 19465909.
6. Dern RJ, Beutler E, Alving A. The hemolytic effect of primaquine. II. The natural course of the hemolytic anemia and the mechanism of its self-limited character. J Lab Clin Med 1954, 44(2):171-176. 13184224.
7. Carson PE, Flanagan C, Ickes C, Alving A. Enzymatic deficiency in primaquine-sensitive erythrocytes. Science 1956, 124(3220):484-485. 10.1126/science.124.3220.484-a, 13360274.
8. Howes RE, Piel FB, Patil AP, Nyangiri OA, Gething PW, Dewi M, Hogg MM, Battle KE, Padilla CD, Baird JK, Hay SI. G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map. PLoS Med 2012, 9(11):1001339. 10.1371/journal.pmed.1001339.
9. Shekalaghe SA, ter Braak R, Daou M, Kavishe R, van den Bijllaardt W, van den Bosch S, Koenderink JB, Luty AJF, Whitty CJM, Drakeley C, Sauerwein RW, Bousema T. In Tanzania, hemolysis after a single dose of primaquine coadministered with an artemisinin is not restricted to glucose-6-phosphate dehydrogenase-deficient (G6PD A-) individuals. Antimicrob Agents Chemother 2010, 54(5):1762-1768. 10.1128/AAC.01135-09, 20194698.
10. Beutler E. G6PD: population genetics and clinical manifestations. Blood Rev 1996, 10(1):45-52. 10.1016/S0268-960X(96)90019-3, 8861278.
11. Ganczakowski M, Town M, Bowden DK, Vulliamy TJ, Kaneko A, Clegg JB, Weatherall DJ, Luzzatto L. Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific). Am J Hum Genet 1995, 56(1):294-301. 7825590.
12. Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N. Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci U S A 1992, 89(13):5847-5851. 10.1073/pnas.89.13.5847, 1631067.
13. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, Maller J, Sklar P, de Bakker PIW, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81(3):559-575. 10.1086/519795, 17701901.
14. Clayton D, Leung H-T. An R package for analysis of whole-genome association studies. Hum Hered 2007, 64(1):45-51. 10.1159/000101422, 17483596.
15. R Development Core Team (2008): R: A language and environment for statistical computing. R Foundation for Statistical Computing: Vienna, Austria;2008. ISBN 3-900051-07-0, http://www.R-project.org
16. Scheet P, Stephens M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 2006, 78(4):629-644. 10.1086/502802, 16532393.
17. Beutler E, Kuhl W, Vives-Corrons JL, Prchal JT. Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. Blood 1989, 74(7):2550-2555. 2572288.
18. May J, Meyer CG, Grossterlinden L, Ademowo OG, Mockenhaupt FP, Olumese PE, Falusi AG, Luzzatto L, Bienzle U. Red cell glucose-6-phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population. Trop Med Int Health 2000, 5(2):119-123. 10.1046/j.1365-3156.2000.00529.x, 10747271.
19. Johnson MK, Clark TD, Njama-Meya D, Rosenthal PJ, Parikh S. Impact of the method of G6PD deficiency assessment on genetic association studies of malaria susceptibility. PLoS ONE 2009, 4(9):7246. 10.1371/journal.pone.0007246.
20. Nance WE. Quantitative studies of glucose-6-phosphate dehydrogenase. Am J Hum Genet 1977, 29(5):537-544. 900126.
21. Battistuzzi G, Esan GJ, Fasuan FA, Modiano G, Luzzatto L. Comparison of GdA and GdB activities in Nigerians. A study of the variation of the G6PD activity. Am J Hum Genet 1977, 29(1):31-36. 835573.
22. Hirono A, Beutler E. Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Proc Natl Acad Sci U S A 1988, 85(11):3951-3954. 10.1073/pnas.85.11.3951, 2836867.
23. Vulliamy TJ, Othman A, Town M, Nathwani A, Falusi AG, Mason PJ, Luzzatto L. Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-. Proc Natl Acad Sci U S A 1991, 88(19):8568-8571. 10.1073/pnas.88.19.8568, 1924316.
24. Tishkoff SA, Varkonyi R, Cahinhinan N, Abbes S, Argyropoulos G, Destro-Bisol G, Drousiotou A, Dangerfield B, Lefranc G, Loiselet J, Piro A, Stoneking M, Tagarelli A, Tagarelli G, Touma EH, Williams SM, Clark AG. Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science 2001, 293(5529):455-462. 10.1126/science.1061573, 11423617.
25. Sabeti PC, Reich DE, Higgins JM, Levine HZP, Richter DJ, Schaffner SF, Gabriel SB, Platko JV, Patterson NJ, McDonald GJ, Ackerman HC, Campbell SJ, Altshuler D, Cooper R, Kwiatkowski D, Ward R, Lander ES. Detecting recent positive selection in the human genome from haplotype structure. Nature 2002, 419(6909):832-837. 10.1038/nature01140, 12397357.