Genetic association analysis of serotonin transporter polymorphism (5-HTTLPR) with type 2 diabetes patients of Pakistani population.

AIMS

It is well established that the serotonergic system contributes to the regulation of glucose homeostasis and feeding and therefore it has been presumed to contribute to the biological susceptibility to type 2 diabetes mellitus (T2DM) and body-mass index (BMI). 5-HTTLPR is a serotonin transporter (5-HTT) gene-linked polymorphic region that regulates the transcriptional activity of 5-HTT. Our aim was to investigate the possible association of 5-HTTLPR polymorphism (L and S alleles) in the promoter region of the serotonin transporter gene with T2DM and/or higher BMI in Pakistani population.

METHODS

In this study, 574 subjects diagnosed with T2DM and 402 unrelated normal controls from the general Pakistani population were genotyped for 5-HTTLPR polymorphism by PCR amplification and agarose gel electrophoresis. The genotyping data (S/S, S/L and L/L) were recorded and analysed statistically using various software and online available tools.

RESULTS

In the total sample, patients with type 2 diabetes and controls without diabetes, genotypes were distributed according to Hardy-Weinberg equilibrium, and S allele frequency was 61.52% (0.61). There was no statistical association between 5-HTTLPR polymorphism and the development of T2DM in this Pakistani population (p=0.12).

CONCLUSIONS

No significant statistical association of 5-HTTLPR polymorphism with type 2 diabetes and obesity in Pakistani population shows that 5-HTTLPR polymorphism is not a major factor in determining type 2 diabetes and obesity in Pakistan.