gtf2i gtf2ird1和il12a基因多态性与中国汉族人群系统性红斑狼疮的相关性研究-correlation between gtf2i gt f2 ird 1 and il12a gene polymorphism and systemic lupus erythematosus in chinese han population.docxVIP

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gtf2i gtf2ird1和il12a基因多态性与中国汉族人群系统性红斑狼疮的相关性研究-correlation between gtf2i gt f2 ird 1 and il12a gene polymorphism and systemic lupus erythematosus in chinese han population.docx

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gtf2i gtf2ird1和il12a基因多态性与中国汉族人群系统性红斑狼疮的相关性研究-correlation between gtf2i gt f2 ird 1 and il12a gene polymorphism and systemic lupus erythematosus in chinese han population

AbstractObjective This study aimed to investigate the association between single nucleotide polymorphisms (SNP) in GTF2I, 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 patientsand 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 immunodiffusionmethods．The associations of the SNP with the various serological markers and clinicalmanifestations 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/Tgenotypic 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 ofrs4717901 （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 foundbetween 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 (