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Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene.
- Source :
-
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver [Dig Liver Dis] 2007 Apr; Vol. 39 (4), pp. 351-5. Date of Electronic Publication: 2007 Mar 07. - Publication Year :
- 2007
-
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.<br />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).<br />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.<br />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.
Details
- Language :
- English
- ISSN :
- 1590-8658
- Volume :
- 39
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
- Publication Type :
- Academic Journal
- Accession number :
- 17347060
- Full Text :
- https://doi.org/10.1016/j.dld.2006.12.019