title: Genetic susceptibility to Gilbert's syndrome in a valencian population; efficacy of the fasting test.
abstract: OBJECTIVE
  To describe the populational distribution of the UGT1A1*28 variant (genetic variant code rs8175347) located in the promotor of the UGT gene and correlate its genotypes with the results of the fasting test, as well as its relationship with the biochemical disorder of Gilbert's syndrome (GS) in a Valencian population.
  
  
  METHODS
  We studied the prevalence of the genotypes (TA)6/6(TA)6/7and (TA)7/7of the deleterious variant rs8175347 in 144 patients with hyperbilirubinemia, 38 of whom had previously undergone the fasting test to diagnose GS, and in 150 control patients. By analysing the genomic region of the TATA box of the UGT1A1 gene promotor using Sanger sequencing, we established the correlation between the rs8175347 genotypes and the fasting test results and with the patients' biochemical disorders.
  
  
  RESULTS
  The rate of heterozygosity of allele (TA)7in the control population was 32% and increased to 87.59% among the patients with suspected GS. The rate of genotype TA7/7was 81.94% among the patients with hyperbilirubinemia, compared with 11.33% in the control patients. The fasting test showed a 15.79% rate of false negatives and a 5.26% rate of false positives.
  
  
  CONCLUSIONS
  The high frequency of allele (TA)7among the Valencian control population, almost double the 5% reported for European control patients, confirms the high rate of GS reported in the Spanish population, without observing significant differences between the geographical ends of the country. The efficacy and reliability of the fasting test for the diagnosis of GS is questionable.
authors.affiliation: Laboratorio de Genética Molecular, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España.
authors.forename: A K
authors.initials: AK
authors.lastname: Torres
authors.affiliation: Laboratorio de Genética Molecular, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España.
authors.forename: N
authors.initials: N
authors.lastname: Escartín
authors.affiliation: Laboratorio de Genética Molecular, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España.
authors.forename: C
authors.initials: C
authors.lastname: Monzó
authors.affiliation: Laboratorio de Genética Molecular, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España.
authors.forename: C
authors.initials: C
authors.lastname: Guzmán
authors.affiliation: Laboratorio de Genética Molecular, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España.
authors.forename: I
authors.initials: I
authors.lastname: Ferrer
authors.affiliation: Servicio de Digestivo, Hospital General de Valencia, Valencia, España.
authors.forename: C
authors.initials: C
authors.lastname: González-Muñoz
authors.affiliation: Laboratorio de Bioquímica, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España.
authors.forename: P
authors.initials: P
authors.lastname: Peña
authors.affiliation: Laboratorio de Bioquímica, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España.
authors.forename: V
authors.initials: V
authors.lastname: Monzó
authors.affiliation: Laboratorio de Genética Molecular, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España; Laboratorio de Bioquímica, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España.
authors.forename: G
authors.initials: G
authors.lastname: Marcaida
authors.affiliation: Laboratorio de Genética Molecular, Servicio de Análisis Clínicos, Hospital General de Valencia, Valencia, España. Electronic address: rodriguez_raqlop@gva.es.
authors.forename: R
authors.initials: R
authors.lastname: Rodríguez-López
keywords: Ayuno; Fasting; Gilbert's syndrome; Hiperbilirrubinemia; Hyperbilirubinemia; Síndrome de Gilbert; UGT1A1