Association study of 3-UTR haplotype of HLA-G gene with Lupus

Abstract

Background Human leukocyte antigen-G (HLA-G) is a protein that plays a critical role in immune regulation and tolerance. Systemic lupus erythematosus (SLE) is a complex autoimmune disease that results from a combination of genetic and environmental factors. Studies have shown that HLA-G polymorphisms and mutations may contribute to the development of SLE. Objective The aim of this study was to investigate the association between polymorphisms in the 3'-UTR region of the HLA-G gene and SLE. Methods DNA was extracted from 100 SLE patients and 100 control samples, and PCR was used to amplify the target sequence. The allele and genotype frequencies were calculated, and haplotypes were evaluated using Haploview v.4.2 software, with linkage disequilibrium calculated. Results The results showed that the + 2960 Ins allele was significantly associated with SLE as a risk factor, while the Del allele was protective. The + 3010 C allele and + 3187 A allele were also significantly associated with SLE at both the allele and genotype level. The + 3142 GG homozygote was significantly associated with SLE at the genotype level. Haplotype block analysis found that the UTR-2 haplotypes were significantly associated with SLE as a risk factor, while the UTR-1 haplotype was protective. These findings provide valuable insights into the genetic factors contributing to the risk of developing SLE. Conclusion The study highlights the significance of polymorphisms in the 3'-UTR region of the HLA-G gene in SLE susceptibility and suggests that these variants may have potential as diagnostic or therapeutic targets.