title: Design of an allele-specific PCR assay to genotype the rs12255372 SNP in a pilot study of association between common TCF7L2 polymorphisms and type 2 diabetes in Venezuelans.
abstract: OBJECTIVE
  The global burden of diabetes mellitus will impact strongly American countries in the coming decades. Type 2 diabetes mellitus (T2DM) is a multifactorial disease and the basis for its genetic susceptibility remains not fully understood. Different population studies have demonstrated that variants of the TCF7L2 gene are strongly associated with an increased risk of T2DM. Moreover, institutions or countries with limited budget to conduct genetic research need cost effective methods for detecting DNA variants.
  
  
  METHODS
  We standardized a rapid and simple allele-specific PCR method for genotyping the rs12255372 single nucleotide polymorphism (SNP) in a pilot study exploring the association of three TCF7L2 polymorphisms (rs7903146, rs12255372 and DG10S478) with T2DM in 70 patients and 73 controls from Venezuela.
  
  
  RESULTS
  The performance of the designed allele-specific PCR reaction for rs12255372 genotyping was reliable and accurate. Patients carrying the TCF7L2 rs7903146 T allele (CT + TT genotypes) and heterozygous CT genotype had a significantly higher risk for T2DM (OR = 2.9 and 2.3, respectively). Although rs12255372 and DG10S478 risk alleles predominated in T2DM group no statistical significance was found.
  
  
  CONCLUSIONS
  We developed a novel allele-specific PCR method for easier and rapid detection of rs12255372 polymorphism without the use of expensive instrumentation and reagents. Our study in a relatively small sample of the Venezuelan population replicated the association of the rs7903146 SNP with T2DM. Further studies with larger sample size and more biochemical data should be conducted to explore the genetic basis of T2DM susceptibility in Venezuela.
authors.affiliation: Laboratorio de Genética Molecular "Dr. Jorge Yunis-Turbay", Decanato de Ciencias de la Salud, Universidad Centroccidental Lisandro Alvarado (UCLA), Barquisimeto, Venezuela.|Departamento de Medicina Interna, Hospital Antonio María Pineda-UCLA, Barquisimeto, Venezuela.
authors.forename: Yeinmy
authors.initials: Y
authors.lastname: Moran
authors.affiliation: Laboratorio de Genética Molecular "Dr. Jorge Yunis-Turbay", Decanato de Ciencias de la Salud, Universidad Centroccidental Lisandro Alvarado (UCLA), Barquisimeto, Venezuela.
authors.forename: Luis
authors.initials: L
authors.lastname: Labrador
authors.affiliation: Laboratorio de Genética Molecular "Dr. Jorge Yunis-Turbay", Decanato de Ciencias de la Salud, Universidad Centroccidental Lisandro Alvarado (UCLA), Barquisimeto, Venezuela.
authors.forename: María Eugenia
authors.initials: ME
authors.lastname: Camargo
authors.affiliation: Departamento de Medicina Interna, Hospital Antonio María Pineda-UCLA, Barquisimeto, Venezuela.
authors.forename: David
authors.initials: D
authors.lastname: Fernández
authors.affiliation: Laboratorio de Genética Molecular "Dr. Jorge Yunis-Turbay", Decanato de Ciencias de la Salud, Universidad Centroccidental Lisandro Alvarado (UCLA), Barquisimeto, Venezuela.
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Chiurillo
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results; D012307:Risk Factors; D058118:Transcription Factor 7-Like 2 Protein / Q000235:genetics*; D014687:Venezuela
chemical_list: D005819:Genetic Markers; C544894:TCF7L2 protein, human; D058118:Transcription Factor 7-Like 2 Protein