Abstract: Objective: To investigate the association of C1q gene cluster polymorphisms with systemic lupus 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 between 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.

Key words: systemic lupus erythematosus (SLE), complement, C1q, single nucleotide polymorphisms (SNPs)