Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia (Articolo in rivista)

Type
Label
  • Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1093/hmg/ddp203 (literal)
Alternative label
  • Serena Sanna;1 Fabio Busonero;1 Andrea Maschio;1 Patrick F. McArdle;2 Gianluca Usala;1 Mariano Dei;1 Sandra Lai;1 Antonella Mulas;1 Maria Grazia Piras;1 Lucia Perseu;1 Marco Masala;1 Mara Marongiu;1 Laura Crisponi;1 Silvia Naitza;1 Renzo Galanello;3 Gonçalo R. Abecasis;4 Alan R. Shuldiner;2,5 David Schlessinger;6 Antonio Cao;1 and Manuela Uda1 (2009)
    Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
    in Human molecular genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Serena Sanna;1 Fabio Busonero;1 Andrea Maschio;1 Patrick F. McArdle;2 Gianluca Usala;1 Mariano Dei;1 Sandra Lai;1 Antonella Mulas;1 Maria Grazia Piras;1 Lucia Perseu;1 Marco Masala;1 Mara Marongiu;1 Laura Crisponi;1 Silvia Naitza;1 Renzo Galanello;3 Gonçalo R. Abecasis;4 Alan R. Shuldiner;2,5 David Schlessinger;6 Antonio Cao;1 and Manuela Uda1 (literal)
Pagina inizio
  • 2711 (literal)
Pagina fine
  • 2718 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 18 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Istituto di Neurogenetica e Neurofarmacologia del Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy 2Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD, USA 3Clinica Pediatrica, Ospedale Regionale delle Microcitemie, Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, 09121 Cagliari, Italy 4Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA 5Veterans Administration Medical Center, Geriatric Research and Education Clinical Center, Baltimore, MD, USA 6Laboratory of Genetics, National Institute on Aging, Baltimore, MD, USA (literal)
Titolo
  • Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia (literal)
Abstract
  • Bilirubin, resulting largely from the turnover of hemoglobin, is found in the plasma in two main forms: unconjugated or conjugated with glucuronic acid. Unconjugated bilirubin is transported into hepatocytes. There, it is glucuronidated by UGT1A1 and secreted into the bile canaliculi. We report a genome wide association scan in 4300 Sardinian individuals for total serum bilirubin levels. In addition to the two known loci previously involved in the regulation of bilirubin levels, UGT1A1 (P= 6.2 x 10-62) and G6PD (P = 2.5 x 10-8), we observed a strong association on chromosome 12 within the SLCO1B3 gene (P= 3.9 x 10-9). Our findingswere replicated in an independent sample of 1860 Sardinians and in 832 subjects from the Old Order Amish (combined P < 5 x10-14). We also show that SLC01B3 variants contribute to idiopathic mild unconjugated hyperbilirubinemia. Thus, SLC01B3 appears to be involved in the regulation of serum bilirubin levels in healthy individuals and in some bilirubin-related disorders that are only partially explained by other known gene variants (literal)
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