Duffy blood group gene polymorphisms among malaria vivax patients in four areas of the Brazilian Amazon region

Abstract

Background: Duffy blood group polymorphisms are important in areas where Plasmodium vivax predominates, because this molecule acts as a receptor for this protozoan. In the present study, Duffy blood group genotyping in P. vivax malaria patients from four different Brazilian endemic areas is reported, exploring significant associations between blood group variants and susceptibility or resistance to malaria.

Plasmodium vivax clinical malaria is commonly observed in Duffy-negative Malagasy people

“…Meanwhile, debate persists regarding the evolutionary relationship between P. vivax and Duffy negativity. Observations of P. vivax PCR positivity in Duffy-negative people add support for alternative receptors (20)(21)(22). In contrast, the observation that carriers of the Papua New Guinea Duffy-negative allele (FY*A ES ) (37) experience reduced P. vivax blood-stage infection (38) underscores the strong dependence this parasite displays on Duffy-dependent invasion.…”

“…PCR-positive samples have been reported in Brazil where there is significant admixture of Duffy-negative and Duffypositive individuals (20,21). However, the key biological evidence showing erythrocytes infected by P. vivax has not been provided.…”

“…With the availability of molecular diagnostics, observations of P. vivax PCR-positive, Duffy-negative individuals have been made (20)(21)(22). PCR-positive samples have been reported in Brazil where there is significant admixture of Duffy-negative and Duffypositive individuals (20,21).…”

Infectious disease — a genetic view

“…Hence DARC is not the only receptor for P. vivax, but is likely to be a major one for human transmission [88]. It appears that while this mutation confers an advantage for defense against the parasite, it also causes a disadvantage in that it leads to greater susceptibility to prostate cancer [70].…”

“…To date more than ten different genes controlling resistance have been identified [5,64], many of which were discovered by case-control studies. These include the genes for globin [65], glucose-6-phosphate dehydrogenase [66], pyruvate kinase [67], erythrocyte protein 3 (SLC4A1) [14], genes for the system of blood groups ABO (glycophorin A, glycophorin B) [68], glycophorin C [69], chemokine receptor Duffy [70], CD36 [71], ICAM1 (intercellular adhesion molecule 1 / CD54) [72], HLA Class I [51], HLA Class II [51], TNF [73], and genes FCGR2A (CD32 -low-affinity receptor for IgG Fc fragment) [74], IFNGRI (interferon gamma receptor 1) [75], IL12B (β chain of the interleukin 12) [76] and NOS2A (inducible nitric oxide synthase) [77] (see Table 1). Some of these will be discussed in more detail because they illustrate mechanisms the body uses to resist infection.…”