Polymorphism analysis of malaria susceptibility biomarkers in G6PD deficiency patients

Several studies suggested that some traits and polymorphisms in human genome such as G6PD deficiency and other genes have protective effects on susceptibility to malaria infection.

In present study we investigated the prevalence of TNF-244GgA, TNF 308 GgA,TNF-238GgA, NOS2-954GgC, MBL54GgA, MBL 57GgA, MBL IVSI - 5 GgA polymorphisms and G6PD variants (Mediterranean, Chatham, Cosenza, A - (202,376) in 315 subjects with G6PD deficiency and 10 malaria patient. All the 315 subjects were selected from five provinces (Fars, Khuzestan, Esfahan, Yazd and Kerman) and screened by PCR-RFLP method.

The NOS2-954GgA consisted GG(40.31%), GC(53.01%), and CC(6.66%) where as TNF􀁄-308 consisted GG(68.8%), AG(31.11%) contents. The TNF􀁄 -244 showed GG(94.60%), AG(5.39%) genotypes and the TNF􀁄-238 had GG(92.69%), AG(6.66%), AA(0.63%) genotypes. The MBL54 polymorphism had GG(75.55%), AG (24.44%), AA(0.63%) genotypes. In MBL 57, had GG(95.23%), AG(4.76%), AA (0.63%) genotypes. The G6PD variants was indicated that Mediterranean mutation in Fars, Khuzestan, Esfahan, Yazd and Kerman provinces was 79.4%, 58%, 83/8%, 64% and 63% respectively and also, the Chatham mutation was 8.8%, 8% 4.5%,3.6% and 0% respectively. Analysis of other four mutations (Cosenza, Arures and A-202 and A-367) showed that none of them had those mutations.

Our results suggested that genotypes which causes protection against malaria or reduction of risk for celebral malaria and death has the maximum prevalence in samples taken from the five provinces, but in the kolmogorov-smiranov test results, only NOS2-954GgC supported the theory of relation between these olymorphisms and protection against malaria.