Genetic susceptibility to Gilbert's syndrome in a Valencian population; efficacy of the fasting test

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• 作者：A.K. Torres^a ; N. Escartí ; n^a ; C. Monzó ; ^a ; C. Guzmá ; n^a ; I. Ferrer^a ; C. Gonzá ; lez-Mu&ntilde ; oz^b ; P. Pe&ntilde ; a^c ; V. Monzó ; ^c ; G. Marcaida^a ; ^c ; R. Rodrí ; guez-Ló ; pez^a ; ^{rodriguez_raqlop@gva.es}
• 关键词：Gilbert's syndrome ; Hyperbilirubinemia ; Fasting ; UGT1A1
• 刊名：Revista Clínica Española (English Edition)
• 出版年：2017
• 出版时间：January-February 2017
• 年：2017
• 卷：217
• 期：1
• 页码：1-6
• 全文大小：890 K
• 卷排序：217

文摘

To describe the population 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.Patients and methodsWe studied the prevalence of the genotypes (TA)6/6 (TA)6/7 and (TA)7/7 of 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.ResultsThe rate of heterozygosity of allele (TA)7 in the control population was 32% and increased to 87.59% among the patients with suspected GS. The rate of genotype TA7/7 was 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.ConclusionsThe high frequency of allele (TA)7 among 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.