The prevalence of chemokine receptors (CCR5-Δ32, CCR5-m303, CCR2-64I, and SDF1-3'A) in the population with sickle cell anemia

Abstract

Objective

The objective of the present research was to examine the presence of gene polymorphisms within chemokine receptors in a population with Sickle Cell Disease (SCD) and in a group of individuals without health complications. The selected genotypes were the chemokine receptor genes CCR5-Δ32, CCR5-m303, CCR2-64I, and SDF1-3'A.

Methods

From Chhattisgarh, India, 2586 individuals were screened for sickle cell anemia, out of which 200 individuals with SCD and 50 as controls were subjected to genotyping of CCR5-Δ32, CCR5-m303, CCR2-64I, and SDF1-3'A gene polymorphisms using RT-qPCR, followed by RFLP. The frequencies of both genotypes and alleles were calculated, and the assessment of Hardy-Weinberg equilibrium was performed using the chi-squared goodness-of-fit test.

Results

We report a 10.55 % (HbAs-9.78 % & HbSS-0.77 %) prevalence of sickle cell anemia in Chhattisgarh, India, and the allelic frequencies of CCR5/CCR5 and Δ32/Δ32 as 0.966 and 0.034, respectively (χ2 = 0.3097, P-0.85654). The CCR5-m303 mutation was not detected in any of the individuals, indicating the absence of mutant alleles. The allelic frequencies for the wild-type CCR2-64 V allele and the CCR2-64I variant were calculated at 0.84 and 0.16 (χ2 = 6.9444, P = 0.3105) and the wild-type SDF1 and the 3′A variant were determined as 0.732 and 0.268, respectively (χ2 = 0.9630, P-061783).

Conclusions

The present study provides essential insights into the prevalence of chemokine receptor gene polymorphisms in SCD and healthy populations. The findings indicate distinct patterns in the distribution of genotypes and alleles, consistent with Hardy-Weinberg equilibrium. The variant CCR5-Δ32 is found to be helpful in inhibiting inflammation, especially in the SCD population.