Relationship between SHP2 gene polymorphisms and systemic lupus erythematosus risk.

Area of Science:

• Immunogenetics
• Molecular Biology
• Rheumatology

Background:

• Systemic lupus erythematosus (SLE) is a complex autoimmune disease with multifactorial etiology.
• SHP2, a protein tyrosine phosphatase, plays a role in inflammatory signaling pathways.
• The association between SHP2 gene polymorphisms and SLE susceptibility in the Chinese Han population remains unexplored.

Purpose of the Study:

• To investigate the correlation between SHP2 gene polymorphisms and the risk of developing SLE.
• To explore the association between specific SHP2 gene polymorphisms and clinical manifestations in SLE patients.

Main Methods:

• A case-control study involving 320 SLE patients and 400 healthy controls from the Chinese Han population.
• Genotyping of three SHP2 single nucleotide polymorphisms (SNPs): rs4767860, rs7132778, and rs7953150 using Kompetitive Allele-Specific Polymerase Chain Reaction (KASPar).

Main Results:

• SHP2 polymorphisms rs4767860 (AA, AG+AA genotypes; A allele) and rs7132778 (AA, AC+AA genotypes; A allele) were significantly associated with increased SLE risk.
• Specific genotypes and alleles of rs7132778 and rs7953150 were linked to clinical features such as oral ulcers, pyuria, hypocomplementemia, and alopecia.
• Elevated C-reactive protein levels were observed in patients with specific rs4767860 genotypes (AA, AG).

Conclusions:

• SHP2 gene polymorphisms, specifically rs4767860 and rs7132778, are associated with SLE susceptibility in the Chinese Han population.
• These genetic variations may also contribute to the diverse clinical phenotypes observed in SLE patients.