Hemocentro de Ribeirão Preto, Instituto Nacional de Ciência e Tecnologia em Células Tronco e Terapia Celular, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil.
Genet Mol Biol. 2011 Oct;34(4):539-45. doi: 10.1590/S1415-47572011005000051. Epub 2011 Oct 1.
Complement receptor 1 (CR1) gene polymorphisms that are associated with Knops blood group antigens may influence the binding of Plasmodium parasites to erythrocytes, thereby affecting susceptibility to malaria. The aim of this study was to evaluate the genotype and allele and haplotype frequencies of single-nucleotide polymorphisms (SNPs) of Knops blood group antigens and examine their association with susceptibility to malaria in an endemic area of Brazil. One hundred and twenty-six individuals from the Brazilian Amazon were studied. The CR1-genomic fragment was amplified by PCR and six SNPs and haplotypes were identified after DNA sequence analysis. Allele and haplotype frequencies revealed that the Kn(b) allele and H8 haplotype were possibly associated with susceptibility to Plasmodium falciparum. The odds ratios were reasonably high, suggesting a potentially important association between two Knops blood antigens (Kn(b) and KAM(+)) that confer susceptibility to P. falciparum in individuals from the Brazilian Amazon.
补体受体 1(CR1)基因多态性与 Knops 血型抗原相关,可能影响疟原虫对红细胞的结合,从而影响疟疾的易感性。本研究旨在评估巴西流行地区单核苷酸多态性(SNP)的 Knops 血型抗原的基因型和等位基因及单倍型频率,并探讨其与疟疾易感性的关系。研究了来自巴西亚马逊地区的 126 个人。通过 PCR 扩增 CR1-基因组片段,经 DNA 序列分析鉴定了 6 个 SNP 和单倍型。等位基因和单倍型频率显示,Kn(b)等位基因和 H8 单倍型可能与对恶性疟原虫的易感性有关。比值比相当高,提示巴西亚马逊地区个体中两个 Knops 血型抗原(Kn(b)和 KAM(+))与对恶性疟原虫的易感性之间存在潜在的重要关联。