Relationship between SHP2 gene polymorphisms and systemic lupus erythematosus risk

Abstract

Objective: Systemic lupus erythematosus (SLE) is a complex autoimmune disorder. SHP2, a non-transmembrane member of the protein tyrosine phosphatase (PTP) family, can be involved in multiple signaling pathways in inflammatory response. To date, it remains to be investigated whether polymorphisms in the SHP2 gene are correlated with SLE in the Chinese Han population.

Method: A study comprising 320 SLE patients and 400 healthy individuals was performed. Three single nucleotide polymorphisms (rs4767860, rs7132778, rs7953150) of the SHP2 gene were genotyped using the Kompetitive Allele-Specific Polymerase Chain Reaction method.

Results: Genotypes of rs4767860 (AA, AG + AA) and rs7132778 (AA, AC + AA), and alleles of rs4767860 (A) and rs7132778 (A) were associated with SLE risk. Genotype AA of rs7132778 and allele A of rs7132778 and rs7953150 were associated with oral ulcers in SLE patients. Allele C of rs7132778 and genotype AA and allele A of rs7953150 were associated with pyuria. Patients who carried AA genotype and allele A of rs7953150 are more likely to develop hypocomplementemia. AA and AG genotype frequencies are more raised in patients with SLE with alopecia than in those without alopecia. Patients who carried AA and AG genotypes of rs4767860 had elevated C-reactive protein levels.

Conclusion: Gene polymorphisms of SHP2 (rs4767860, rs7132778) are relevant to SLE susceptibility.

Keywords: SHP2; polymorphisms; risk; systemic lupus erythematosus.