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Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers.

Abstract：

BACKGROUND:Genetic variations of UDP-glucuronyltransferase 1A1 (UGT1A1) influence the concentration of serum bilirubin. We investigated the association of four common polymorphisms including UGT1A1-53(TA)(n), and common haplotypes of the UGT1A1 gene with bilirubin levels in 218 Caucasian volunteers. METHODS:Total bilirubin was measured in serum of 218 healthy Caucasian volunteers. Genotyping of four genetic variants was performed: UGT1A1-53(TA)(6/7), UGT1A1c.-3279T>G, UGT1A1c.-3156G>A, and UGT1A1c.211G>A. The association between polymorphisms/haplotypes and bilirubin levels were determined. RESULTS:Minor allele frequencies were 0.36 for UGT1A1-53(TA)(7), 0.47 for c.-3279G, 0.33 for c.-3156A and 0.006 for c.211A. The three promoter polymorphisms were in close linkage disequilibrium. Common haplotypes were: -53(TA)(6)/c.-3279T/c.211G (frequency 0.530), -53(TA)(7)/c.-3279G/c.211G (frequency 0.365), and -53(TA)(6)/c.-3279G/c.211G (frequency 0.099). Male sex, UGT1A1-53(TA)(6/7) and the c.-3279GG variant were significantly associated with higher bilirubin concentrations. CONCLUSIONS:Two UGT1A1 promoter polymorphisms (-53(TA)(6/7) and c.-3279T>G) and a common haplotype of the UGT1A1 gene are associated with serum bilirubin concentrations in Caucasians.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Borucki K,Weikert C,Fisher E,Jakubiczka S,Luley C,Westphal S,Dierkes J

doi

10.1016/j.clinbiochem.2009.08.011

subject

Has Abstract

pub_date

2009-11-01 00:00:00

pages

1635-41

issue

16-17

eissn

0009-9120

issn

1873-2933

pii

S0009-9120(09)00361-0

journal_volume

42

pub_type

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