title: Genetic association analysis of serotonin transporter polymorphism (5-HTTLPR) with type 2 diabetes patients of Pakistani population.
abstract: OBJECTIVE
  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.
authors: Institute of Biomedical and Genetic Engineering, 24-Mauve Area, G-9/1, Islamabad, Pakistan. Electronic address: ahameed0786@hotmail.com.
authors: A
authors: A
authors: Hameed
authors: Institute of Biomedical and Genetic Engineering, 24-Mauve Area, G-9/1, Islamabad, Pakistan.
authors: M
authors: M
authors: Ajmal
authors: Institute of Biomedical and Genetic Engineering, 24-Mauve Area, G-9/1, Islamabad, Pakistan.
authors: M
authors: M
authors: Nasir
authors: Institute of Biomedical and Genetic Engineering, 24-Mauve Area, G-9/1, Islamabad, Pakistan.
authors: M
authors: M
authors: Ismail
mesh_terms: D000328:Adult; D000483:Alleles; D004247:DNA / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies / Q000379:methods*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010154:Pakistan / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D004247:DNA
keywords: 5-HTTLPR polymorphism; Body mass index; Genetic association.; Type 2 diabetes mellitus