Association Of GTF2I, GTF2IRD1 And IL12A Gene Polymorphisms With Systemic Lupus Erythematosus In Chinese Han Population

Objective This study aimed to investigate the association between single nucleotide polymorphisms(SNP) in GTF2 I, GTF2IRD1, HLA-DQB1 gene and systemic lupus erythematosus(SLE) in a Han Chinese population. Methods SNP rs117026326(GTF2I), rs4717901(GTF2IRD1) and rs485497(IL12A), rs583911(IL12A) from 908 SLE patients and 961 healthy controls were genotyped using polymerase chain reaction-ligase detection reaction(PCR-LDR). The anti-SSA/B, anti-Sm, anti-RNP, and anti-dsDNA antibodies were determined by indirect immunofluorescenc, double immunodiffusion methods.The associations of the SNP with the various serological markers and clinical manifestations of SLE were statistically analyzed by using PLINKv1.07. Results: Allelic and genotypic frequencies were significant statistically difference(Allelic:p =2.71×10-40, genotypic:p =3.36×10-52) between SLE patients and controls. In the SLE group T/T genotypic frequency and T allelic frequency were significantly increased, and in three genetic models(additive, dominant, and recessive), the genotypic frequencies were significant statistically difference(all, p <0.05). The allelic and genotypic frequencies of rs4717901(GTF2IRD1) were significant statistically difference(Allelic:p =3.08×10-23, genotypic:p =4.25×10-20). And the genotypic frequencies were significant statistically difference(all, p <0.05) in three genetic models. No statistically significant difference for the allelic or genotypic frequencies of rs485497(IL12A), rs583911(IL12A) was found between SLE patients and healthy controls. In three genetic models no statistically significant difference for the frequencies of rs485497(IL12A), rs583911(IL12A) was found between the two groups. No evidence of association between rs485497, rs583911(IL12A) variant and any clinical features. Conclusion This findings provided strong evidence suggesting that rs117026326(GTF2I) and rs4717901(GTF2IRD1) were the susceptible factors of SLE and the rs485497(IL12A), rs583911(IL12A) may be unrelated to SLE in Chinese Han population.