The association of the glycophorin C exon 3 deletion with ovalocytosis andmalaria susceptibility in the Wosera, Papua New Guinea

Erythrocyte polymorphisms, including ovalocytosis, have been associated wit h protection against malaria. This study in the Wosera, a malaria holoendem ic region of Papua New Guinea, examined the genetic basis of ovalocytosis a nd its influence on susceptibility to malaria infection. Whereas previous s tudies showed significant associations between Southeast Asian ovalocytosis (caused by a 27-base pair deletion in the anion exchanger 1 protein gene) and protection from cerebral malaria, this mutation was observed in only 1 of 1019 individuals in the Wosera. Polymerase chain reaction strategies wer e developed to genotype individuals for the glycophorin C exon 3 deletion a ssociated with Melanesian Gerbich negativity (GPC Delta ex3). This polymorp hism was commonly observed in the study population (GPC Delta ex3 frequency = 0.465, n = 742). Although GPC Delta ex3 was significantly associated wit h increased ovalocytosis, it was not associated with differences in either Plasmodium falciparum or P vivax infection measured over the 7-month study period. Future case-control studies will determine if GPC Delta ex3 reduces susceptibility to malaria morbidity. (Blood. 2001;98:3489-3491) (C)2001 by The American Society of Hematology.