The association of the polymorphism of the 5-HTT gene with alcohol use disorders

Objective To investigate the possible associations of two polymorphisms(5-HTTLPR and STin2VNTR)of the serotonin transporter gene with alcohol use disorders (AUD). Methods 281 AUD cases (AUDIT score≥10) and 277 healthy controls (AUDIT score≤5) were recruited in this study. All participants were genotyped using the PCR technique. Results The frequency of the L-allele of the 5-HTTLPR was 39.01%, and the 10-allele of STin2VNTR was 8.42% in this population, the allele frequencies of both polymorphisms were consistent with Asian normal populations. No significant association was observed between 5-HTTLPR and AUD, but the genotypic and allele frequencies of the STin2VNTR were significant different between two groups even after Bonferroni adjustment, the 12 repeat allele of the STin2VNTR was significantly associated with the risk effect for AUD. Haplotype analysis for those two polymorphisms revealed no association between 4 haplotype combinations and AUD. Conclusion There is no relationship between 5-HTTLPR and AUD.The STin2VNTR polymorphism of 5-HTT may play a role in the pathogenesis of AUD. Key words: Serotonin-transporter-linked polymorphic region; Variable number tanden repeat in the second intron; Alcohol use disorders; SNP; Association