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<p>The A2 phenotype, a subgroup of blood group A, accounts for 10% of blood group A cases, while A2B represents 1%. A1 cells express more carbohydrate precursors than A2, which mainly displays types 1 and 2. Anti-A1 antibodies, present in some A2 (1–8%) and A2B (22–35%) cases, can complicate transfusions. This study examines the relationship between single nucleotide variants (SNVs) in the galactosyltransferase A (GTA) gene and anti-A1 antibody production in A2 and A2B blood groups. Conducted at the Vesal Blood Transfusion Center, Tehran (October 2023 - June 2024), the study involved male donors with A2 or A2B phenotypes. Donors with anti-A1 antibodies formed the case group, while those without formed the control group. Exon 7 of the GTA gene from 25 samples per group was sequenced to identify SNVs. Among 1,489 samples, 27 (5.6%) were A2 and 90 (31.6%) were A2B. Anti-A1 antibodies were found in 44.4% of A2 and 54.4% of A2B individuals. The GTA G991A (p.G331S) polymorphism showed a significant inverse association with anti-A1 presence (OR = 0.34, <i>P</i> = 0.047). The coinheritance of several SNVs was linked to anti-A1 titers but lacked statistical significance. The study suggests a higher prevalence of anti-A1 in A2 and A2B individuals than previously reported and highlights the GTA G991A polymorphism’s role in anti-A1 production. Further research is needed to explore these genetic mechanisms.</p>

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Inverse Association of Galactosyl Transferase A c.991G > A (p.G331S) Gene Polymorphism with Anti-A1 Production in A2 and A2B Blood Group Donors

  • 期刊论文

  • 发表日期：

    2025年7月7日

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  • Alireza Hatami,
  • Saeid Kaviani,
  • Fatemeh Mohammadali,
  • Fatemeh Mirzaeyan

摘要

The A2 phenotype, a subgroup of blood group A, accounts for 10% of blood group A cases, while A2B represents 1%. A1 cells express more carbohydrate precursors than A2, which mainly displays types 1 and 2. Anti-A1 antibodies, present in some A2 (1–8%) and A2B (22–35%) cases, can complicate transfusions. This study examines the relationship between single nucleotide variants (SNVs) in the galactosyltransferase A (GTA) gene and anti-A1 antibody production in A2 and A2B blood groups. Conducted at the Vesal Blood Transfusion Center, Tehran (October 2023 - June 2024), the study involved male donors with A2 or A2B phenotypes. Donors with anti-A1 antibodies formed the case group, while those without formed the control group. Exon 7 of the GTA gene from 25 samples per group was sequenced to identify SNVs. Among 1,489 samples, 27 (5.6%) were A2 and 90 (31.6%) were A2B. Anti-A1 antibodies were found in 44.4% of A2 and 54.4% of A2B individuals. The GTA G991A (p.G331S) polymorphism showed a significant inverse association with anti-A1 presence (OR = 0.34, P = 0.047). The coinheritance of several SNVs was linked to anti-A1 titers but lacked statistical significance. The study suggests a higher prevalence of anti-A1 in A2 and A2B individuals than previously reported and highlights the GTA G991A polymorphism’s role in anti-A1 production. Further research is needed to explore these genetic mechanisms.