A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

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dc.catalogadoraba
dc.contributor.authorBuch, S.
dc.contributor.authorSchafmayer, C.
dc.contributor.authorVölzke, H.
dc.contributor.authorBecker, C.
dc.contributor.authorFranke, A.
dc.contributor.authorVon Eller-Eberstein, H.
dc.contributor.authorKluck, C.
dc.contributor.authorBässmann, I.
dc.contributor.authorBrosch, M.
dc.contributor.authorLammert, F.
dc.contributor.authorMiquel P., Juan Francisco
dc.contributor.authorNervi, Flavio
dc.contributor.authorWittig, M.
dc.contributor.authorRosskopf, D.
dc.contributor.authorTimm, B.
dc.contributor.authorHöll, C.
dc.contributor.authorSeeger, M.
dc.contributor.authorElsharawy, A.
dc.contributor.authorLu, T.
dc.contributor.authorEgberts, J.
dc.contributor.authorFändrich, F.
dc.contributor.authorFölsch, U. R.
dc.contributor.authorKrawczak, M.
dc.contributor.authorSchreiber, S.
dc.contributor.authorNürnberg, P.
dc.contributor.authorTepel, J.
dc.contributor.authorHampe, J.
dc.date.accessioned2024-08-09T15:07:15Z
dc.date.available2024-08-09T15:07:15Z
dc.date.issued2007
dc.description.abstractWith an overall prevalence of 10-20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries1,2. We performed an association scan of 4500,000 SNPs in 280 individuals with gallstones and 360 controls. A follow-up study of the 235 most significant SNPs in 1,105 affected individuals and 873 controls replicated the disease association of SNP A-1791411 in ABCG8 (allelic P value P-CCA = 4.1 x 10(-9)), which was subsequently attributed to coding variant rs11887534 (D19H). Additional replication was achieved in 728 German (P = 2.8 x 10(-7)) and 167 Chilean subjects (P = 0.02). The overall odds ratio for D19H carriership was 2.2 (95% confidence interval: 1.8-2.6, P = 1.4 x 10(-14)) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile.
dc.fuente.origenConveris
dc.identifier.doi10.1038/ng2101
dc.identifier.eissn1546-1718
dc.identifier.issn1061-4036
dc.identifier.urihttps://doi.org/10.1038/ng2101
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/87387
dc.identifier.wosidWOS:000248446900017
dc.information.autorucEscuela de Medicina; Miquel P., Juan Francisco; 0000-0002-0526-4377; 72216
dc.information.autorucEscuela de Medicina; Nervi, Flavio; 0000-0002-6642-7985; 99156
dc.language.isoen
dc.pagina.final999
dc.pagina.inicio995
dc.revistaNature Genetics
dc.rightsacceso restringido
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleA genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
dc.typeartículo
dc.volumen39
sipa.codpersvinculados72216
sipa.codpersvinculados99156
sipa.trazabilidadConveris;20-07-2021
sipa.trazabilidadORCID;2024-08-05
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