Development and validation of a high-throughput screening method for two polymorphisms in the serotonin transporter...

Area of Science:

• Pharmacogenomics
• Molecular Biology
• Genetics

Background:

• The human serotonin transporter (5-hydroxytryptamine), encoded by SLC6A4, is crucial for serotonin reuptake and a target for CNS-acting drugs.
• Variations in SLC6A4 influence drug response, making their identification vital for personalized medicine.

Purpose of the Study:

• To establish a high-throughput single nucleotide polymorphism (SNP) screening method for two SLC6A4 gene variations: rs140701 and rs2066713.
• To validate the developed method by comparing allele frequencies with published data.

Main Methods:

• Developed a real-time PCR protocol for screening SLC6A4 variations rs140701 and rs2066713.
• Validated the protocol by determining allele frequencies in 169 individuals (87 with mental disorders, 82 healthy controls) and comparing with existing literature.

Main Results:

• The real-time PCR method demonstrated reliability and cost-effectiveness.
• Allele frequencies for rs140701 (68%) and rs2066713 (61%) were consistent with previously published data.
• No significant difference in SNP prevalence was observed between patient and control groups.

Conclusions:

• The developed real-time PCR protocol is a reliable, economical, and suitable method for routine laboratory analysis of SLC6A4 variations.
• This method can aid in the prediction of drug response based on serotonin transporter gene polymorphisms.