Association of the rs371194629 variant of the HLA-G gene and clinical characteristics in patients with common variable immunodeficiency in western Mexico

Introduction: Common variable immunodeficiency (CVID) encompasses inborn errors of immunity, being a frequent form of Primary Immunodeficiencies in adults (PID). CVID is characterized by low levels of immunoglobulins, which increases susceptibility to infection. HLA-G, a crucial molecule to regulate the immune system and maintain immunotolerance, with the rs371194629 (14 bp I/D) variant, linked to changes in HLA-G expression levels, which can trigger infections, malignant tumors or autoimmune disorders. The aim of this study was to determine the association of the rs371194629 variant in patients with CVID and their clinical characteristics. Method: We included a total of 35 Mexican patients diagnosed with CVID and 194 individuals as the reference group (RG). The following symptoms were observed: upper and lower respiratory tract infections, gastrointestinal infections, bronchiectasis, autoimmunity, atopy, and malignancy. Genotyping of the rs371194629 (14 bp I/D) variant was performed using AS-PCR, obtaining fragments of 210 bp (Deletion) or 224 bp (Insertion). Results were observed on polyacrylamide gel electrophoresis (PAGE) and stained with 2% silver nitrate. Hardy-Weinberg equilibrium (HWE) and data analysis was performed in SNPstats and SPSS. Values of p <0.05 (95% CI) were statistically significant. Results: Both study groups were in HWE. The allelic and genotypic frequencies were Del= 59%, Ins=41%; Del/Del=32%, Del/Ins=53%, Ins/Ins=15% for CVID and Del=51%, Ins=49%, Del/Del=24%, Del/Ins=53%, Ins/Ins =23% for GR. No statistically significant p value = <0.05 (95% CI) was found in this study. Conclusions: When comparing the genotypes with the clinical characteristics of the patients, the results were not statistically significant in this study. The presence of the variable rs371194629 (14 bp I/R) did not show a statistically significant effect with the study group. We suggest increasing the sample size in future studies to further examine this relationship.

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