Department of Biochemistry and Molecular Medicine, Rowe Program in Human Genetics, University of California, Davis, CA 95616, USA.
Genes Immun. 2011 Oct;12(7):582-8. doi: 10.1038/gene.2011.33. Epub 2011 May 19.
Complement receptor 1 (CR1) levels have been associated with malarial susceptibility and/or severity of the disease in different population groups, and CR1 is a receptor for Plasmodium falciparum. In this study, multiple CR1 single-nucleotide polymorphisms (SNPs) showed strong evidence of population differentiation between Sardinian and other European ethnic groups. Cross population algorithms comparing haplotype structure and differences in haplotype and allele frequency distribution provided additional support for natural selection of CR1 in Sardinia. The predominant Sardinian CR1 haplotype included SNPs that are associated with decreased CR1 levels in Europeans and other population groups. Previous studies have shown that the SNPs within the dominant Sardinian haplotype have a significantly higher frequency in a malaria endemic compared with non-endemic regions in India. Together with the historical evidence of the prevalence of malaria in Sardinia, these data support the role of malaria leading to positive selection of this CR1 haplotype in Sardinia.
补体受体 1（CR1）水平与不同人群的疟疾易感性和/或疾病严重程度有关，CR1 是恶性疟原虫的受体。在这项研究中，多个 CR1 单核苷酸多态性（SNP）显示出撒丁岛和其他欧洲族群之间存在强烈的种群分化证据。跨人群算法比较单倍型结构以及单倍型和等位基因频率分布的差异，为 CR1 在撒丁岛的自然选择提供了额外的支持。主要的撒丁岛 CR1 单倍型包括与欧洲人和其他人群 CR1 水平降低相关的 SNP。先前的研究表明，在印度疟疾流行地区与非流行地区相比，显性撒丁岛单倍型内的 SNP 频率明显更高。结合撒丁岛疟疾流行的历史证据，这些数据支持疟疾导致这种 CR1 单倍型在撒丁岛受到正向选择的作用。
