Genetic Variation of the CCL2 Promoter Polymorphism (rs1024611) in HIV-Infected Thai Patients
Keywords:
CCL2 gene promoter, rs1024611, HIV infection, Genetic polymorphismAbstract
C-C Motif Chemokine Ligand 2 (CCL2) plays a crucial role in inflammation and immune response. Single-nucleotide polymorphism (SNP) rs1024611 is associated with increased CCL2 protein expression, potentially affecting HIV-related complications. This study analyzes the genetic diversity of the CCL2 gene promoter region, specifically 378 bp covering SNP rs1024611, among HIV-infected individuals in Thailand. DNA was extracted from whole blood samples, and the CCL2 gene segment covering rs1024611 was amplified using polymerase-chain reaction (PCR) technique. Nucleotide sequences were analyzed by direct sequencing method. Bioinformatics analysis of 140 samples with qualified chromatograms identified nucleotide variations and examined association and linkage disequilibrium between SNPs. Only one additional SNP, rs2151345396, was found. The allelic frequencies of rs1024611 were 0.511 for allele A and 0.489 for allele G, with genotypic frequencies of 0.193 (AA), 0.636 (AG), and 0.171 (GG). The allelic frequencies of rs2151345396 were 0.907 (G) and 0.093 (C). Statistical analysis revealed no significant association between rs1024611 and rs2151345396, indicating their independence, despite strong linkage disequilibrium (D’ = 0.9985, r2= 0.0984). In addition, the study found that the genetic diversity in the studied population differed significantly from the data in the SNP database LiveRef SNPs, dbSNP b156v2 and 1000 Genomes Phase 3) from NCBI database. This research underscores the importance of considering population-specific genetic diversity, emphasizing the need for nucleotide sequencing and diversity assessment before utilizing this information for gene expression studies and the development of molecular diagnostic methods targeting the CCL2 gene.
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