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.
Keywords: 5-HTTLPR polymorphism; Body mass index; Genetic association.; Type 2 diabetes mellitus.
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