补体C1q基因簇rs631090多态性与女性系统性红斑狼疮的相关性研究

目的:确定补体C1q基因簇单核苷酸多态性(single nucleotide polymorphisms,SNPs)与中国女性人群系统性红斑狼疮(SLE)的易感性。方法:111例女性SLE患者及120名女性正常对照者。提取样本基因组DNA后,经普通PCR扩增目的基因,采用二代测序分析C1q基因簇上三个位点(rs631090、rs292001、rs294223)的基因型及等位基因分布。在不同的遗传模式下分析三个位点基因多态性与SLE的相关性。结果:位点rs631090(C1qB)病例组与对照组基因型频率和等位基因分布比较差异均具有统计学意义(P=0.034和P=0.008)。位点rs292001(C1qA)和rs294223(C1qB)的基因型频率及等位基因分布结果在两组间不具统计学差异(P值均大于0.05)。位点rs631090在显性遗传模型下CT/CC基因型在统计学上具有显著保护性作用(OR=0.470,95%CI=0.268-0.823,P0.05)。rs292001和rs294223在三种遗传模型下分析均未发现相关性(P值均大于0.05)。结论:在中国女性人群中rs631090位点SNPs与SLE相关,基因型CT/CC可能为女性SLE保护基因型。

Association of rs631090 C1q gene cluster polymorphism with systemic lupus erythematosus among women population

Objective:To investigate the association of C1q gene cluster polymorphisms with systemic lu￣pus erythematosus ( SLE) among Chinese women population. Methods: A case-control study including 111 SLE patients and 120 healthy individuals were designed. DNA of the subjects was extracted and amplified by polymerase chain reaction ( PCR) . The difference in frequencies of the three single nucleotide polymorphisms (SNPs) (rs631090, rs292001 and rs294223) alleles and the genotypes were further confirmed by the next-generation sequencing technology. Results:In rs631090 ( C1qB) , distributions of the genotypes or alleles be￣tween case and controls were significantly different (P=0.034 and P=0.008, respectively). The differences in the frequencies of the other two SNPs (rs292001 (C1qA) and rs294223 (C1qB)) alleles and genotype were statistically insignificant when the SLE patients were compared with controls in this study ( all, P>0.05) . Under dominant model, the CT/CC genotypes of rs631090 showed significant protective effect on SLE ( OR=0.470, 95% CI=0.268-0.823, P<0.05). About rs294223 and rs292001, no association was detected using different genetic model ( additive, dominant and recessive;all, P>0.05) . Conclusion:Our findings indicate that the SNPs of rs631090 might be associated with the development of SLE among Chinese women population, and the genotype CT/CC of rs631090 may be the protective genotype for SLE.