Polymorphisms in rs915941 and rs915942: Are they associated with increased risk of G6PD enzyme deficiency in the Sri Lankan population?

Radical treatment of imported malaria is vital for prevention of re-introduction of the disease in Sri Lanka. Individuals with glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency are subject to haemolytic anaemia with anti-malarial drugs such as primaquine, which could interfere with radical treatment. The present study reports for the first time the association of genetic factors and G6PD deficiency in Sri Lanka. Twelve single nucleotide polymorphisms (SNPs) were genotyped in 130 G6PD deficient individuals and 170 healthy controls. Association between the geriotypm/alleles and G6PD deficiency was assessed. Unadjusted and adjusted analyses revealed two putative associations of rs915941 and rs915942 with G6PD deficiency status. An empirical power analysis provided evidence of virtually 100 % power of detecting these associations if they were true. In both SNPs, the homozygotes referring to the minor allele showed a decrease in risk of being G6PD deficient. In particular, cases had 1.733 times odds of having the A allele of rs915941 when compared to controls (95% CI = 1.247-2.409). In rs915942, the odds of the G allele are 1.625 times higher in cases when compared to controls (95 % CI = 1.199-2.202). Linkage disequilibrium revealed that these two SNPs are highly linked in these populations. Other studied SNPs were also in linkage and formed separate haplotype blocks. The detected associations of rs915941 and rs915942 with G6PD deficiency are likely to be true associations in these Sri Lankan study populations. Therefore, it is recommended to investigate the possible interaction of these SNPs in a primaquine treatment setting.