Association study of rs1632947, rs1233334, and rs371194629 Polymorphisms in HLA-G Gene Expression and sHLA-G with lupus

Abstract

Abstract Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that has been associated with HLA-G in previous studies on immunological diseases. This study aimed to investigate the association between three HLA-G gene polymorphisms (rs1632947, rs1233334, and rs371194629) and their impact on HLA-G mRNA expression and soluble HLA-G levels in serum. Genotyping was performed using TaqMan probe PCR. RNA extraction, reverse transcription PCR, and real-time PCR assay were conducted to assess the expression of microRNAs in serum and tissue samples. Soluble HLA-G was mesurede using ELISA in serum. Statistical analyses were performed using GraphPad Prism software with a significance level of p-value of 0.05. Results show a significant difference in the frequency of the G allele for two 5' untranslated region (UTR) polymorphisms of the HLA-G gene (rs1632947 and rs1233334) located at position − 964 and − 725, respectively, between the lupus patients and controls, with p-values of 0.009 and 0.040, respectively. In addition, the study identified the 14 bp insertion allele of the rs371194629 polymorphism located in the 3' UTR of the gene as a risk factor for lupus, with a p-value of 0.001. Our results also show that lupus-related alleles may increase the risk of developing the disease by upregulating the expression of HLA-G and increasing soluble HLA-G levels in serum. The findings of the study suggest that the identified genetic variants may play a role in the development of lupus and could be useful in identifying individuals at risk for the disease. These results are important for advancing our understanding of the genetic basis of lupus and may have implications for the development of new treatments and diagnostic tools for the disease.