Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene. (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene. (Articolo in rivista) (literal)

Anno

• 2007-01-01T00:00:00+01:00 (literal)

Alternative label

• Clementi M; Di Gianantonio E; Fabris L; Forabosco P; Strazzabosco M; Tenconi R; Okolicsanyi L (2007)
  Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene.
  in Digestive and Liver Disease
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Clementi M; Di Gianantonio E; Fabris L; Forabosco P; Strazzabosco M; Tenconi R; Okolicsanyi L (literal)

Pagina inizio

• 351 (literal)

Pagina fine

• 355 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 39 (literal)

Rivista

• Digestive and Liver Disease (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Clinical Genetics and Epidemiology, Department of Pediatrics, University of Padua, Italy Department of Surgical and Gastroenterological Sciences, University of Padua, Italy Centro Nazionale Ricerche (CNR), Cagliari, Italy Department of Internal Medicine, Section of Digestive Diseases, TAC Building, Room 233, Yale University, New Haven, USA (literal)

Titolo

• Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene. (literal)

Abstract

• BACKGROUND AND AIM: To clarify the precise mode of inheritance of Gilbert syndrome, an unconjugated familial hyperbilirubinemia, where impaired bilirubin conjugation is caused by reduced UGT1A1 activity determined by a defective function of the A(TA)6TAA promoter region of the UGT1A1 gene. SUBJECTS AND METHODS: Serum bilirubin levels were measured in a large, homogeneous resident population from North-Eastern Italy, consisting of 1.639 males (age 44.5+/-13.9, range 18-89 years), and 1.420 females (age 45.1+/-15.0, range 18-85). In 112 nuclear families from hyperbilirubinemic probands living in the same area a complex segregation analysis was then performed. In both samples we carefully excluded potentially confounding factors of bilirubin levels (alcohol abuse, excessive cigarette smoking, drug consumption, overt haemolysis and liver disease). RESULTS: Mean serum bilirubin concentrations are higher in males than in females, showing fluctuations through the different age periods in males. Complex segregation results demonstrate that unconjugated hyperbilirubinemia exhibits a precise mode of inheritance in which a major recessive gene with a frequency of 0.45 is responsible for higher serum bilirubin values. CONCLUSIONS: This major recessive gene accounts only for a part of the serum bilirubin concentration, thus implying additional, environmental factors for the clinical appearance of GS. (literal)

Prodotto di

• Institute of population genetics (IGP) (Istituto)
• Identificazione di fattori genetici associati a malattie multifattoriali comuni tramite un originale approccio allo studio di isolati genetici (SV.P18.001.001) (Modulo)

Autore CNR

• PAOLA FORABOSCO (Unità di personale interno)

Incoming links:

Autore CNR di

• PAOLA FORABOSCO (Unità di personale interno)

Prodotto

• Institute of population genetics (IGP) (Istituto)
• Identificazione di fattori genetici associati a malattie multifattoriali comuni tramite un originale approccio allo studio di isolati genetici (SV.P18.001.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Digestive and Liver Disease (Rivista)