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A novel mis‐sense mutation in the platelet glycoprotein CD36 is associated with protection from malaria
Author(s) -
Pain A.,
Kai O.,
Urban B.,
CasalsPascual C.,
Marsh K.,
Roberts D.
Publication year - 2000
Publication title -
transfusion medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.471
H-Index - 59
eISSN - 1365-3148
pISSN - 0958-7578
DOI - 10.1046/j.1365-3148.2000.00261-5.x
Subject(s) - cd36 , malaria , mutation , biology , immunology , gene , virology , genetics
Severe malaria is caused at least in part by the adhesion of malaria‐infected erythrocytes to endothelium and other host cells. Although many host proteins including CD36, are receptors for infected erythrocytes it has proved difficult to establish the pathological significance of particular host–parasite interactions. CD36 deficiency is common in Africans and we hypothesized that mutations in the Cd36 gene may confer protection from malaria. The common mutation leading to CD36 deficiency in Japanese is absent in Africans. We therefore sequenced the Cd36 gene from two Afro‐Americans who did not express CD36 and identified a novel mutation from T to G in the Cd36 gene leading to a stop codon (TAT‐TAG). In a large case‐control of severe malaria we found heterozygotes for the T‐G mutation were present in 121/693 (17·4%) of the controls but only 95/693 (13·7%) of malaria cases and is therefore associated with protection form malaria ( P = 0·039, OR 0·74, 95% CI (0·55–0·99). Furthermore, the association of the mutation with protection was greater in those children with more severe disease. We suggest that this and other polymorphisms of Cd36 gene exist as balanced polymorphisms in malaria endemic areas and may predispose people to other diseases in adult life. Understanding the polymorphisms of the Cd36 gene may be useful in platelet immunology and help in understanding the genetic epidemiology of not only malaria but also common diseases in Africans.