Association of C-572G Gene Polymorphism with Anti-E Production
Overview
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Background: Interleukin 6 (IL-6) is involved in regulation of immunoglobulin production. The aim of this study was to investigate the association between IL-6 single nucleotide polymorphisms (SNPs) in the IL-6 promoter and anti-E in red blood cell (RBC) transfusion recipients.
Methods: 50 healthy subjects, 54 patients with RBC alloantibody anti-E (responders), and 45 patients without alloantibody (non-responders) were recruited. All patients were E antigen-negative.
Results: All healthy subjects and patients had GG at -174 position of gene. In our healthy subjects, the frequency of the -572 CC genotype was 58%, that of the -572 CG genotype 38%, and that of the -572 GG genotype 4%. The frequency of G allele of -572 SNP in responders was significantly higher than that in non-responders, (31.5 vs. 16.7%; p = 0.020). The frequency of -572 G-positive genotypes (CG and GG) in responders was also significantly higher than that in non-responders, (55.6 vs. 31.1%; p = 0.016). The relative risk of RBC alloimmunization for patients with the -572 G-positive genotype was significantly higher than that of patients with the -572 CC genotype, (1.771 vs. 0.640; p 0.016).
Conclusion: C-572G gene polymorphism is significantly associated with anti-E production, with the allele G as a risk allele.
Escamilla-Rivera V, Liu J, Gibb D, Santhanakrishnan M, Liu D, Forsmo J Blood. 2020; 135(22):1983-1993.
PMID: 32266378 PMC: 7256361. DOI: 10.1182/blood.2020005018.