UGT1A1 (TA)n PROMOTER GENOTYPE:
DIAGNOSTIC AND POPULATION
PHARMACOGENETIC MARKER IN SERBIA
Vukovic M, Radlovic N, Lekovic Z, Vucicevic K, Maric N, Kotur N,
Gasic V, Ugrin M, Stojiljkovic M, Dokmanovic L, Zukic B, Pavlovic S
*Corresponding Author: Sonja Pavlovic, Ph.D., Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and
Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO BOX 23, 11010 Belgrade, Serbia.
Tel: +38111-3976445. Fax: +38111-3975808. E-mail: sonya@sezampro.rs
page: 59
|
|
REFERENCES
1. Nagar S, Blanchard RL. Pharmacogenetics of uridine
diphosphoglucuronosyltransferase (UGT)1A family
members and its role in patient response to irinotecan.
Drug Metab Rev. 2006; 38(3): 393-409.
2. Barbarino JM, Haidar CE, Klein TE, Altman RB.
PharmGKB summary: Very important information
for UGT1A1. Pharmacogenet Genomics. 2014; 24(3):
177-183.
3. Gong QH, Cho JW, Huang T, Potter C, Gholami N,
Basu NK, et al. Thirteen UDP-glucuronosyltransferase
genes are encoded at the human UGT1 gene
complex locus. Pharmacogenetics. 2001; 11(4): 357-
368.
4. Strassburg CP, Kneip S, Topp J, Obermayer-Straub P,
Barut A, Tukey RH, et al. Polymorphic gene regulation
and interindividual variation of UDP-glucuronosyltransferase
activity in human small intestine. J
Biol Chem. 2000; 275(46): 36164-36171.
5. Strassburg CP, Nguyen N, Manns MP, Tukey RH.
Polymorphic expression of the UDP-glucuronosyltransferase
UGT1A gene locus in human gastric
epithelium. Mol Pharmacol. 1998; 54(4): 647-654.
6. Wisnumurti D, Sribudiani Y, Porsch RM, Maskoen
AM, Abdulhamied LI, Rahayuningsih SE, et al.
UGT1A1 genetic variations and haplotype associated
with neonatal hyperbilirubinemia in Indonesian
population. Biomed Res Int. 2018; 2018: 9425843.
doi: 10.1155/2018/9425843. 7. Marques SC, Ikediobi ON. The clinical application
of UGT1A1 pharmacogenetic testing: Gene-environment
interactions. Hum Genomics. 2010; 4(4):
238-249.
8. Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de
Boer A, Oostra BA, et al. The genetic basis of the
reduced expression of bilirubin UDP-glucuronosyltransferase
1 in Gilbert’s syndrome. N Engl J Med.
1995; 333(18): 1171-1175.
9. Aono S, Adachi Y, Uyama E, Yamada Y, Keino H,
Nanno T, et al. Analysis of genes for bilirubin UDPglucuronosyltransferase
in Gilbert’s syndrome. Lancet.
1995; 345(8955): 958-959.
10. Bosma P, Chowdhury JR, Jansen PH. Genetic inheritance
of Gilbert’s syndrome. Lancet. 1995;
346(8970): 314-315.
11. Radlović N. Hereditary hyperbilirubinemias. Srp Arh
Celok Lek. 2014; 142(3-4): 257-260.
12. Radu P, Atsom J. Gilbert’s syndrome-clinical and
pharmacological implications. Isr Med Assoc J. 2001;
3(8): 593-598.
13. Radlović N, Leković Z, Mladenović M, Ristić D,
Radlović V, Lekić V, et al. Gilbert’s syndrome in
children – Our experience. Srp Arh Celok Lek. 2007;
135(5-6): 317-320.
14. Radlović N, Ristić D, Brdar R, Janić N, Leković Z,
Janić D, et al. Association of hereditary elliptocytosis
and Gilbert’s syndrome as the cause of biliary
calculosis: Case report. Srp Arh Celok Lek. 2011;
139(5-6): 386-389.
15. Memon N, Weinberger BI, Hegyi T, Aleksunes LM.
Inherited disorders of bilirubin clearance. Pediatr Res.
2016; 79(3): 378-386.
16. Pharmacogenomics Knowledge Base (https://www.
pharmgkb.org) [accessed: April 10 2018]
17. Ha VH, Jupp J, Tsang RY. Oncology drug dosing in
Gilbert Syndrome associated with UGT1A1: A summary
of the literature. Pharmacotherapy. 2017; 37(8):
956-972.
18. de Morais SM, Uetrecht JP, Wells PG. Decreased
glucuronidation and increased bioactivation of acetaminophen
in Gilbert’s syndrome. Gastroenterology.
1992; 102(2): 577-586.
19. Berg AO, Armstrong K, Botkin J, Calonge N, Haddow
J, Kaye C, et al. Evaluation of Genomic Applications
in Practice and Prevention (EGAPP) Working Group.
Recommendations from the EGAPP Working Group:
Can UGT1A1 genotyping reduce morbidity and mortality
in patients with metastatic colorectal cancer treated
with irinotecan? Genet Med. 2009; 11(1): 15-20.
20. Zucker SD, Qin X, Rouster SD, Yu F, Green RM,
Keshavan P, et al. Mechanism of indinavir-induced
hyper-bilirubinemia. Proc Natl Acad Sci USA. 2001;
98(22): 12671-12676.
21. Radojkovic D, Kusic J. Silver staining of denaturing
gradient gel electrophoresis gels. Clin Chem. 2000;
46(6 Pt 1): 883-884.
22. Ribrag V, Koscielny S, Casasnovas O, Cazeneuve
C, Brice P, Morschhauser F, et al. Pharmacogenetic
study in Hodgkin lymphomas reveals the impact
of UGT1A1 polymorphisms on patient prognosis.
Blood. 2009; 113(14): 3307-3313.
23. Karan-Djurasevic T, Palibrk V, Kostic T, Spasovski
V, Nikcevic G, Srzentic S, et al. Mutational status
and gene repertoire of IGHV-IGHD-IGHJ rearrangements
in Serbian patients with chronic lymphocytic
leukemia. Clin Lymphoma Myeloma Leuk. 2012;
12(4): 252-260.
24. Wigginton JE, Cutler DJ, Abecasis GR. A note on
exact tests of Hardy-Weinberg equilibrium. Am J
Hum Genet. 2005; 76(5): 887-893.
25. Radoi VE, Ursu RI, Poenaru E, Arsene C, Bohiltea CL,
Bohiltea R. Frequency of the UGT1A1*28 polymorphism
in a Romanian cohort of Gilbert Syndrome individuals.
J Gastrointestin Liver Dis. 2017; 26(1): 25-28.
26. Torres AK, Escartín N, Monzó C, Guzmán C, Ferrer
I, González-Munoz C, et al. Genetic susceptibility to
Gilbert’s syndrome in a Valencian population; efficacy
of the fasting test. Rev Clin Esp. 2017; 217(1): 1-6.
27. Viennas E, Komianou A, Mizzi C, Stojiljkovic M,
Mitropoulou C, Muilu J, et al. Expanded national database
collection and data coverage in the FINDbase
worldwide database for clinically relevant genomic
variation allele frequencies. Nucleic Acids Res. 2017;
45(D1): D846-D853.
28. Beutler E, Gelbart T, Demina A. Racial variability
in the UDP glucuronosyltransferase 1 (UGT1A1)
promoter: A balanced polymorphism for regulation
of bilirubin metabolism? Proc Natl Acad Sci USA.
1998; 95(14): 8170-8174.
29. Premawardhena A, Fisher CA, Liu YT, Verma IC, de
Silva S, Arambepola M, et al. The global distribution
of length polymorphisms of the promoters of the glucuronosyltransferase
1 gene (UGT1A1): Hematologic
and evolutionary implications. Blood Cells Mol Dis.
2003; 31(1): 98-101. 30. Bajro MH, Josifovski T, Panovski M, Jankulovski N,
Nestorovska AK, Matevska N, et al. Promoter length
polymorphism in UGT1A1 and the risk of sporadic
colorectal cancer. Cancer Genet. 2012; 205(4): 163-167.
31. Kapedanovska Nestorovska A, Jakovski K, Naumovska
Z, Hiljadnikova Bajro M, Sterjev Z, Eftimov
A, et al. Distribution of the most common genetic
variants associated with a variable drug response in
the population of the Republic of Macedonia. Balkan
J Med Genet. 2015; 17(2): 5-14.
32. Marinković N, Pasalić D, Grsković B, Ferencak G,
Honović L, Rukavina AS. Genotype frequencies of
UDP-glucuronosyltransferase 1A1 promoter gene
polymorphism in the population of healthy Croatian
pre-scholars. Coll Antropol. 2008; 32(3): 725-729.
33. Mlakar SJ, Ostanek B. Development of a new DHPLC
assay for genotyping UGT1A (TA)n polymorphism
associated with Gilbert’s syndrome. Biochem Med
(Zagreb). 2011; 21(2): 167-173.
34. Ostanek B, Furlan D, Mavec T, Lukac-Bajalo J.
UGT1A1(TA)n promoter polymorphism — A new
case of a (TA)8 allele in Caucasians. Blood Cells
Mol Dis. 2007; 38(2): 78-82.
35. Biondi ML, Turri O, Dilillo D, Stival G, Guagnellini E.
Contribution of the TATA-box genotype (Gilbert syndrome)
to serum bilirubin concentrations in the Italian
population. Clin Chem. 1999; 45(6 Pt 1): 897-898.
36. Etienne-Grimaldi MC, Boyer JC, Thomas F, Quaranta
S, Picard N, Loriot MA, et al. UGT1A1 genotype and
irinotecan therapy: general review and implementation
in routine practice. Fundam Clin Pharmacol.
2015; 29(3): 219-237.
37. Gammal RS, Court MH, Haidar CE, Iwuchukwu OF,
Gaur AH, Alvarellos M, et al.; CPIC. Clinical Pharmacogenetics
Implementation Consortium (CPIC)
Guideline for UGT1A1 and Atazanavir prescribing.
Clin Pharmacol Ther. 2016; 99(4): 363-369.
38. Culley CL, Kiang TK, Gilchrist SE, Ensom MH.
Effect of the UGT1A1 28 allele on unconjugated
hyperbilirubinemia in HIV-positive patients receiving
Atazanavir: A systematic review. Ann Pharmacother.
2013; 47(4): 561-72.
39. Fujita K, Sugiyama M, Akiyama Y, Ando Y, Sasaki
Y. The small-molecule tyrosine kinase inhibitor nilotinib
is a potent noncompetitive inhibitor of the
SN-38 glucuronidation by human UGT1A1. Cancer
Chemother Pharmacol. 2011; 67(1): 237-241.
40. de Souza MM, Vaisberg VV, Abreu RM, Ferreira AS,
da Silva Ferreira C, Nasser PD, et al. UGT1A1 28 relationship
with abnormal total bilirubin levels in chronic
hepatitis C patients: Outcomes from a case-control
study. Medicine (Baltimore). 2017; 96(11): e6306.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
