A Preventive Role of RANTES Genetic Variation against Undifferentiated Schizophrenia.

AIM: Due to conflicting data from relevant studies, evidence for chemokine alterations in the pathophysiology of schizophrenia (Scz) remains inconclusive. Thus, we aimed to investigate the impact of rs2107538, rs2280788, and rs2280789 polymorphisms in CCL5 gene, as well as rs333 within CCR5 gene and the development of Scz in a Tunisian cohort.

METHODS

We performed a case-control study composed of 200 patients and 200 controls using RFLP-PCR.

RESULTS

Among the analyzed polymorphisms, only rs2107538 imparted protection against Scz and more specifically to male sex. This protective effect remained valid for the undifferentiated form. Moreover, this SNP had an impact on patients' symptomatology. When focusing on haplotypes, we noticed that the rs2107538-rs2280788-rs2280789 ACT genetic combination, with only one mutated allele rs2107538A, displayed reduced frequency in both Scz (as a whole group) and undifferentiated subtype. The haplotype distribution profile implies that the A allele at rs2107538 could induce a protective effect by increasing RANTES production.

CONCLUSION

Additional independent analyses are required to corroborate these findings and elucidate the functional implications of the discovered preventing genotypes and haplotypes in Scz.