Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilena

Background: In Europeans the TATA box TA7 repeat promoter variant in the UGT1A1 gene (UGT1A1*28) is the major determinant of bilirubin levels. Aim: To study the prevalence of Gilbert Syndrome (GS) and its genetic determinants in Chile. Material and Methods: Three different studies were conducted. Th...

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Autores principales:	Méndez,Luis, Lagoa,Marcela, Quiroga,Teresa, Margozzini,Paula, Azócar,Lorena, Molina,Héctor R, Vera,Alejandra, Villarroel,Luis, Arrese,Marco, Hampe,Jochen, Buch,Stephan, Miquel,Juan F
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2013
Materias:	Gilbert disease Glucuronosyl transferase Hyperbilirubinemia Organic anion transporters
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872013001000005
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spelling	oai:scielo:S0034-988720130010000052014-10-10Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilenaMéndez,LuisLagoa,MarcelaQuiroga,TeresaMargozzini,PaulaAzócar,LorenaMolina,Héctor RVera,AlejandraVillarroel,LuisArrese,MarcoHampe,JochenBuch,StephanMiquel,Juan F Gilbert disease Glucuronosyl transferase Hyperbilirubinemia Organic anion transporters Background: In Europeans the TATA box TA7 repeat promoter variant in the UGT1A1 gene (UGT1A128) is the major determinant of bilirubin levels. Aim: To study the prevalence of Gilbert Syndrome (GS) and its genetic determinants in Chile. Material and Methods: Three different studies were conducted. The prevalence of GS in Chile was assessed in 991 subjects with normal liver tests (ALT and GGT) from the 2nd National Health Survey. We defined GS as a total bilirubin (TB) between 1.4-5mg/dL. The second study assessed the genotype prevalence of SNP rs6742078 (in LD with UGT1A128) and rs4149056 in 500 DNA samples of non-related Hispanics. Finally, a case-control study was designed to assess the phenotype-genotype correlation. UGT1A128 and rs4149056 variants were determined by direct sequencing and allelic discrimination assays (TaqMan), respectively. Results: Prevalence of GS in the general Chilean population was 2.6% (4.5% in males and 0.5% in female). No correlation with age, educational level or home location was found. Genotypes for UGT1A128 (TA6/6 50.5%, TA6/7 37.8%, TA7/7 11.7%) and rs4149056 (TT 74.1%, CT 22.8%, and CC 3.1%) variants were similar to Europeans. In the case-control study, most patients with GS were homozygotes for UGT1A128 (TA7/7, 74%). Of note, 44% of patients with intermediate TB levels were also TA7/7, compared to 7% in normal subjects. SLCO1B1 genotype was not correlated with TB levels. Conclusions: While the prevalence of GS was lower in Chile compared to Europeans (~5%), the prevalence of UGT1A128 homozygotes was similar (~12%). In Chilean Hispanics, the UGT1A1*28 variant explain 75% of GS phenotype.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.141 n.10 20132013-10-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872013001000005es10.4067/S0034-98872013001000005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Gilbert disease Glucuronosyl transferase Hyperbilirubinemia Organic anion transporters
spellingShingle	Gilbert disease Glucuronosyl transferase Hyperbilirubinemia Organic anion transporters Méndez,Luis Lagoa,Marcela Quiroga,Teresa Margozzini,Paula Azócar,Lorena Molina,Héctor R Vera,Alejandra Villarroel,Luis Arrese,Marco Hampe,Jochen Buch,Stephan Miquel,Juan F Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilena
description	Background: In Europeans the TATA box TA7 repeat promoter variant in the UGT1A1 gene (UGT1A128) is the major determinant of bilirubin levels. Aim: To study the prevalence of Gilbert Syndrome (GS) and its genetic determinants in Chile. Material and Methods: Three different studies were conducted. The prevalence of GS in Chile was assessed in 991 subjects with normal liver tests (ALT and GGT) from the 2nd National Health Survey. We defined GS as a total bilirubin (TB) between 1.4-5mg/dL. The second study assessed the genotype prevalence of SNP rs6742078 (in LD with UGT1A128) and rs4149056 in 500 DNA samples of non-related Hispanics. Finally, a case-control study was designed to assess the phenotype-genotype correlation. UGT1A128 and rs4149056 variants were determined by direct sequencing and allelic discrimination assays (TaqMan), respectively. Results: Prevalence of GS in the general Chilean population was 2.6% (4.5% in males and 0.5% in female). No correlation with age, educational level or home location was found. Genotypes for UGT1A128 (TA6/6 50.5%, TA6/7 37.8%, TA7/7 11.7%) and rs4149056 (TT 74.1%, CT 22.8%, and CC 3.1%) variants were similar to Europeans. In the case-control study, most patients with GS were homozygotes for UGT1A128 (TA7/7, 74%). Of note, 44% of patients with intermediate TB levels were also TA7/7, compared to 7% in normal subjects. SLCO1B1 genotype was not correlated with TB levels. Conclusions: While the prevalence of GS was lower in Chile compared to Europeans (~5%), the prevalence of UGT1A128 homozygotes was similar (~12%). In Chilean Hispanics, the UGT1A1*28 variant explain 75% of GS phenotype.
author	Méndez,Luis Lagoa,Marcela Quiroga,Teresa Margozzini,Paula Azócar,Lorena Molina,Héctor R Vera,Alejandra Villarroel,Luis Arrese,Marco Hampe,Jochen Buch,Stephan Miquel,Juan F
author_facet	Méndez,Luis Lagoa,Marcela Quiroga,Teresa Margozzini,Paula Azócar,Lorena Molina,Héctor R Vera,Alejandra Villarroel,Luis Arrese,Marco Hampe,Jochen Buch,Stephan Miquel,Juan F
author_sort	Méndez,Luis
title	Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilena
title_short	Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilena
title_full	Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilena
title_fullStr	Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilena
title_full_unstemmed	Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilena
title_sort	prevalencia de síndrome de gilbert y sus determinantes genéticas en población chilena
publisher	Sociedad Médica de Santiago
publishDate	2013
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872013001000005
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Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilena

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