摘要：目的 探讨健康人补体受体1（complement receptor type 1, CR1）基因单核苷酸多态性（single nucleotide polymorphisms, SNP）位点与红细胞表面CR1分子水平的相关性。 方法 采用多重PCR-荧光标记单碱基延伸-标签微阵列杂交基因分型技术，检测215例受试者CR1基因5个标签SNP，并采用流式细胞术测定其中81例样本红细胞CR1分子水平。采用Arlequin 3.11软件对各SNP位点基因型频率进行哈温平衡(Hardy-Weinberg equilibrium, HWE)检验，采用SPSS 13.0软件对健康人CR1基因SNP位点基因型及等位基因分布的性别差异、不同基因型人群红细胞CR1分子水平差异和影响红细胞CR1分子水平的单因素和多因素进行统计学分析。 结果 健康人CR1基因SNP位点基因型及等位基因分布性别间的差异无统计学意义（P>0.05）；健康人红细胞CR1几何平均荧光强度比值(the geometric mean fluorescence intensity ratio of CR1, CR1-GMFIR)为3.36±1.26。rs11118167T>C和rs9429945C>T位点各基因型组对应的红细胞CR1分子水平总体比较，差异具有统计学意义(分别为P<0.01和P<0.05)，两两比较时，rs11118167T>C位点TC、CC基因型携带者低于TT基因型者，rs9429945C>T位点CT、TT基因型携带者低于CC基因型者(P值均<0.01)。在年龄、性别、5个标签SNP位点各基因型中，CR1-GMFIR与rs4844600G>A(GG/GA/AA)、rs9429945C>T (CC/CT/TT)、rs11118167T>C(TT/TC/CC)均呈负相关(分别为P<0.05, P<0.01, P<0.01)，影响CR1-GMFIR的最主要因素为rs11118167T>C(P<0.01)，其次为rs9429945C>T(P<0.01)。 结论 rs11118167T>C和rs9429945C>T是红细胞CR1分子水平的主要影响因素。

Abstract: Objective To investigate the association of single nucleotide polymorphisms (SNP) in complement receptor type 1 (CR1) gene and the level of CR1 molecules on erythrocytes in healthy people. Methods The five tag SNPs in CR1 gene from 215 cases of healthy people were detected with multiplex PCR-fluorescent labeled single base extension-tag microarray hybridization genotyping technique, and the level of CR1 molecules on erythrocytes from 81 cases were measured by flow cytometry. The Hardy-Weinberg equilibrium test for genotypic frequencies of 5 tag SNPs was carried out with the Arlequin 3.11 software, and the SPSS V13.0 software was used for comparison of inter-group differences of CR1 level, and genotypic and allelic frequencies, and also for the analysis of single and multiple factors which were correlated with the level of CR1 on erythrocytes. Results There were no statistical significance in genotypic and allelic frequencies of SNPs in CR1 gene between healthy male and female (P>0.05), and the geometric mean fluorescence intensity ratio of CR1 (CR1-GMFIR) was 3.36±1.26. The CR1 level of erythrocytes were different among groups divided by genotypes of rs11118167T>C and rs9429945C>T (P <0.01), and the CR1 level of carrier of TC and CC genotypes of rs11118167T>C were both lower than that of TT genotype, while the CR1 level of carrier of CT and TT genotypes of rs9429945C>T were both lower than that of CC genotype (P <0.01). Among age, gender and genotypes of 5 tag SNPs, CR1-GMFIR were negatively correlated with rs4844600G>A (GG/GA/AA), rs9429945C>T (CC/CT/TT) and rs11118167T>C (TT/TC/CC) (P <0.05). The rs11118167T>C, followed with rs9429945C>T were the major factors which influenced CR1-GMFIR. Conclusion The rs11118167T>C and rs9429945C>T are the major influencing factors of the CR1 molecule level of erythrocytes.