title: Laboratory genetic-based reference values for cholinesterase activity in a Colombian population: A step forward in personalized diagnostics.
abstract: BACKGROUND
  The determination of cholinesterase (ChE) activity has been commonly applied in the biomonitoring of exposure to organophosphate and carbamate pesticides. However, ChE activity is influenced by genetic factors. Integrating genotype and phenotype information in clinical laboratory tests would increase the accuracy of the reference values in well-defined populations.
  
  
  OBJECTIVE
  To establish genetic-based reference values for acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) activity in a Colombian population.
  
  
  METHODS
  A total of 397 healthy adults from Bucaramanga were included in the study. AChE and BChE activities were measured in blood samples by potentiometry and spectrophotometry, respectively. Genotyping for ACHE rs17880573 and BCHE rs1803274 was performed using the TaqMan allelic discrimination assay. The statistical analyses to obtain the reference values were performed with the MedCalc® software.
  
  
  RESULTS
  Allele frequencies were 10.58% for rs17880573 A and 8.82% for rs1803274 A. People with genotypes rs1803274 AA and AG showed a reduction of 20.69% and 10.92% respectively in mean BChE activity compared to people with genotype GG. No significant differences were identified in AChE activity between rs17880573 alleles or genotypes. In the overall sample, the corresponding reference values were as follows: for AChE activity, 0.62-0.98 D pH/h and for BChE activity, 4796.3-10321.1 U/L for people carrying the allele rs1803274A and 5768.2-11180.4 U/L for people carrying the genotype rs1803274 GG.
  
  
  CONCLUSIONS
  We strongly recommend using these genetic-based reference values for ChE enzymes in our well-defined population in daily clinical practice.
authors.affiliation: Grupo de Inmunología y Epidemiología Molecular, Escuela de Microbiología, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.
authors.forename: Luz Helena
authors.initials: LH
authors.lastname: Sánchez
authors.affiliation: Grupo de Inmunología y Epidemiología Molecular, Escuela de Microbiología, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.
authors.forename: Olga Marcela
authors.initials: OM
authors.lastname: Medina
authors.affiliation: Escuela de Medicina, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Gómez
authors.affiliation: Grupo de Inmunología y Epidemiología Molecular, Escuela de Microbiología, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.
authors.forename: Clara Isabel
authors.initials: CI
authors.lastname: González
authors.affiliation: Grupo de Inmunología y Epidemiología Molecular, Escuela de Microbiología, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.
authors.forename: Óscar
authors.initials: Ó
authors.lastname: Flórez-Vargas
mesh_terms: D000110:Acetylcholinesterase / Q000235:genetics / Q000378:metabolism*; D000328:Adult; D002091:Butyrylcholinesterase / Q000235:genetics / Q000378:metabolism*; D003105:Colombia; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D057285:Precision Medicine; D012016:Reference Values; D055815:Young Adult
chemical_list: D000110:Acetylcholinesterase; D002091:Butyrylcholinesterase