Genotype Frequency of HLA-B*58:01 and Its Association with Paraclinical Characteristics and PSORS1C1 rs9263726 in...

Background/Objectives: The HLA-B*58:01 allele is strongly linked to severe cutaneous adverse reactions (SCARs) during allopurinol treatment, and it has been associated with the A allele of PSORS1C1 rs9263726 (G>A). Paraclinical characteristics of gout are indicative of associated comorbid conditions. This study investigated the genotype frequency of HLA-B*58:01 and its association with paraclinical characteristics and PSORS1C1 rs9263726 in gout patients from Northeast Vietnam. Methods: A total of 133 unrelated gout patients were randomly recruited by the clinician. BioEdit sequence alignment editor version 7.2.5 software (Raleigh, Raleigh, NC, USA) was used for the analysis of nucleotide sequence data of HLA-B gene alleles from the IPD-IMGT/HLA Database, which showed that the HLA-B*58:01 allele can be distinguished from reference and other alleles by specific nucleotide positions: 387C, 379C, 368A, 355A, and 353T (in exon 3); and 319C, 285G, and 209A (in exon 2). HLA-B*58:01 and PSORS1C1 rs9263726 genotypes were identified using Sanger sequencing of PCR products, analyzed with BioEdit software, and verified using the NCBI dbVar database. Statistical analyses were performed using SPSS version 25.0. Results: Our study revealed a significant age difference between male and female gout patients (p < 0.001). Male gout patients had an average age of 51.44 ± 14.59 years, whereas female gout patients were notably older, with an average age of 70.33 ± 10.64 years. Positive correlations were observed between platelet count, serum creatinine, and uric acid levels (r = 0.174, p = 0.045; r = 0.195, p = 0.025) in male gout patients, while only high-density lipoprotein cholesterol showed a statistically significant negative correlation with uric acid levels (r = -0.885, p = 0.002) in female patients. The HLA-B*58:01 allele frequency among study subjects was 6.02%, with 12.03% being heterozygous individuals (*X/HLA-B*58:01, N = 16). The HLA-B*58:01 allele was not detected in female gout patients. White blood cell counts were significantly higher in male gout patients with the *X/HLA-B*58:01 genotype compared to those with the *X/*X genotype (p = 0.018). The A allele frequency of PSORS1C1 rs9263726 was 7.89%, and the heterozygous mutant genotype PSORS1C1 GA had a frequency of 15.79% (N = 21). Among the *X/*58:01 carriers, 4.51% had the GG genotype, and 7.52% had the GA genotype at PSORS1C1 rs9263726. Conclusions: Our study showed that the HLA-B*58:01 allele was not detected in female gout patients. White blood cell counts differed significantly between the *X/HLA-B*58:01 and *X/*X groups in male gout patients. The A allele of PSORS1C1 rs9263726 was not consistently associated with HLA-B*58:01 and was not a reliable marker for its detection in this study population.