Association study of CD154 polymorphisms and serum CD154 level with systemic lupus erythematous in Chinese population

The aim of this study was to investigate the association of three polymorphisms of CD154 with risk of SLE in Chinese population. The study population comprised 770 Chinese individuals, including 350 SLE patients and 420 healthy controls. The gene polymorphism was measured using Snapshot SNP genotyping assays and confirmed by sequencing. Serum CD154 (sCD154) level was measured by ELISA. Compared with control group, sCD154 levels were significantly increased in case group (P < 0.001). The minor C allele of rs1126535 was associated with a significantly increased risk of SLE as compared to the major T allele (P < 0.001). Furthermore, an increased frequency of C-G-A haplotype was also detected in case group which associated with an increased risk of SLE (P = 0.009). Notably, patients carrying rs1126535CT/CC genotypes had a higher sCD154 level compared with that carrying rs1126535TT genotype (P < 0.05). Unfortunately, analyses on the association between rs1126535 and several clinical manifestations of SLE failed to find any significant results. In conclusion, these results indicated that CD154 gene polymorphisms may associate with the risk of SLE and may play regulation role in the expression of sCD154 in SLE patients.