Omi Kazuya, Ohashi Jun, Naka Izumi, Patarapotikul Jintana, Hananantachai Hathairad, Looareesuwan Sornchai, Tokunaga Katsushi
Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Southeast Asian J Trop Med Public Health. 2002;33 Suppl 3:1-4.
The human protein CD36 is a major endothelial receptor for Plasmodium falciparum parasitized erythrocytes. Several polymorphisms causing CD36 deficiency have been identified to date: T1264G in Kenyan and Gambian patients, and C478T, 539delAC, and 1159insA in Japanese patients. The T1264G polymorphism is reportedly associated with protection from severe malaria in Kenyans, although there is a contradictory report suggesting the susceptibility of T1264G to severe malaria. The polymorphism of CD36 has not been thoroughly studied in Asian malaria patients. In this study, nucleotide sequence variations in exons 4, 5, 6, and 10 of CD36 were investigated in mild and cerebral malaria patients living in northwest Thailand. A novel synonymous substitution T1168C was detected in exon 10, whereas no variation was found in exons 4 and 6. The 539delAC allele in exon 5 was detected in Thai malaria patients, while T1264G, C478T, and 1159insA were not found. The 539delAC allele was observed in three cerebral malaria patients (3/107), but not in mild malaria patients (0/203). The frequency of 539delAC was significantly higher in cerebral malaria patients than in mild malaria patients (p = 0.040, Fisher's exact test). Although independent studies should be performed in order to confirm our findings, the 539delAC allele might be a high-risk variant for cerebral malaria in Thai.
人类蛋白质CD36是恶性疟原虫寄生红细胞的主要内皮受体。迄今为止，已鉴定出几种导致CD36缺乏的多态性：肯尼亚和冈比亚患者中的T1264G，以及日本患者中的C478T、539delAC和1159insA。据报道，T1264G多态性与肯尼亚人对严重疟疾的保护作用有关，尽管有一份相互矛盾的报告表明T1264G易患严重疟疾。CD36的多态性在亚洲疟疾患者中尚未得到充分研究。在本研究中，对生活在泰国西北部的轻度和脑型疟疾患者的CD36外显子4、5、6和10中的核苷酸序列变异进行了研究。在外显子10中检测到一个新的同义替换T1168C，而在外显子4和6中未发现变异。在泰国疟疾患者中检测到外显子5中的539delAC等位基因，而未发现T1264G、C478T和1159insA。在3例脑型疟疾患者（3/107）中观察到539delAC等位基因，而在轻度疟疾患者中未观察到（0/203）。脑型疟疾患者中539delAC的频率显著高于轻度疟疾患者（p = 0.040，Fisher精确检验）。尽管需要进行独立研究以证实我们的发现，但539delAC等位基因可能是泰国脑型疟疾的高危变异体。
