Association Study Between Polymorphisms Of PTPN22 And Systemic Lupus Erythematosus In The Chinese Population Of Hubei In China

Object: To investigate whether three polymorphism sites (rs2476601, rs1310182 and rs12730735) of gene PTPN22 (protein tyrosine phosphatase nonreceptor 22) are associated with SLE (systemic lupus erythematosus) in Han population from Hubei province of China.Methods: The study presented here describes the associations of three PTPN22 alleles (rs2476601, rs1310182 and rs12730735) with SLE in a Chinese patient cohort; 132 patients with SLE and 156 healthy controls were enrolled in the study. Genotyping of the PTPN22 SNPs were performed using a restriction fragment length polymorphism PCR-based genotyping assay (PCR-RFLP). The genotype and allele frequencies were calculated and analyzed.Results: (1) The PTPN22 SNP (rs2476601) T allele was not presented in the all samples and C allele did the contrast, no single-nucleotide polymorphism (rs2476601) was detected. (2)The genotype frequencies of SNP(rs1310182 )TT,CT and CC were 0.776,0.218 and 0.006 respectively in the healthy population and were 0.735,0.242 and 0.023 respectively in the SLE population. There was no significant difference in genotype and allele frequencies between the SLE patients and control subjects (P>0.05). (3)The genotype frequencies of SNP(rs12730735 ) AA,AG and GG were 0.814,0.186 and 0.000 respectively in the healthy population and were 0.795,0.197 and 0.008 respectively in the SLE population. There was no significant difference in genotype and allele frequencies between the SLE patients and control subjects (P >0.05). Conclusions : (1) The results provide evidence that PTPN22 polymorphism (rs2476601) associated with several autoimmune diseases in Western country was not presented in the Chinese population of Hubei in China. (2) The PTPN22 polymorphisms (rs1310182 and rs12730735) were detected, but were not associated with SLE in the population of Han nationality from Hubei province of China.