Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism

Journal of Human Genetics

Volumn 53, Issue 6, 2008, Pages 524-528

  Martins, Rute ^a   Morais, Anabela ^b   Dias, Alexandra ^c   Soares, Isabel ^d   Rolão, Cristiana ^b   Ducla Soares, J L ^b   Braga, Lígia ^e   Seixas, Teresa ^a   Nunes, Baltazar ^a   Olim, Gabriel ^f   Romão, Luísa ^a   Lavinha, João ^a   Faustino, Paula ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c HOSPITAL FERNANDO FONSECA   (Portugal)

^d HOSPITAL GARCIA DE ORTA   (Portugal)

^e HOSPITAL DONA ESTEFÂNIA   (Portugal)

^f Hospital da Forca Aerea   (Portugal)

Author keywords

Alpha thalassaemia; Hyperbilirubinaemia; Modifier genes; Sickle cell disease; UGT1A1

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE 1A1; HEMOGLOBIN;

ADOLESCENT; ARTICLE; CHILD; CHOLECYSTECTOMY; CHOLELITHIASIS; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENOTYPE; HAPLOTYPE; HUMAN; HYPERBILIRUBINEMIA; MAJOR CLINICAL STUDY; MALE; RETICULOCYTE; SICKLE CELL ANEMIA;

ADOLESCENT; ALPHA-THALASSEMIA; ANEMIA, SICKLE CELL; BILIRUBIN; CHILD; CHILD, PRESCHOOL; CHOLELITHIASIS; DINUCLEOTIDE REPEATS; FEMALE; GLUCURONOSYLTRANSFERASE; HUMANS; INFANT; MALE; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS);

EID: 44449151454     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0281-3     Document Type: Article

References (19)

1. Adekile A, Kutlar F, McKie A, Addington A, Elam D, Holley L, Clair B, Kutlar A (2005) The influence of uridine diphosphate glucuronyl transferase 1A promoter polymorphisms, βS-globin trait and HbF on steady-state bilirubin levels in sickle cell anemia. Eur J Haematol 75:150-155
2. Beutler E, Gelbart T, Demina A (1998) Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA 95:8170-8174
3. Chaar V, Kéclard L, Diara JP, Leturdu C, Elion J, Krishnamoorthy R, Clayton J, Romana M (2005) Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia. Haematologica 90:188-193
4. Chaar V, Keclard L, Etienne-Julan M, Diara JP, Elion J, Krishnamoorthy R, Romana M (2006) UGT1A1 polymorphism outweighs the modest effect of deletional (-3.7 kb) alpha-thalassemia on cholelithogenesis in sickle cell anemia. Am J Hematol 81:377-379
5. anti3.7 triplication by enzymatic amplification analysis. Br J Haematol 83:105-111
6. Fertrin KY, Melo MB, Assis AM, Saad STO, Costa FF (2003) UDP- glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. Clin Genet 64:160-162
7. Galanello R, Perseu L, Melis M, Cipollina L, Barella S, Giagu N (1997) Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. Br J Haematol 99:433-436
8. Galanello R, Cipollina M, Carboni G, Perseu L, Barella S, Corrias A, Cao A (1999a) Hyperbilirubinemia, glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome. Eur J Pediatr 158:914-916
9. Galanello R, Cipollina M, Dessi C, Giaqu N, Lai E, Cao A (1999b) Co-inherited Gilbert's syndrome: a factor determining hyperbilirubinemia in homozygous beta-thalassemia. Haematologica 84:103-105
10. Haider MZ, Ashebu S, Aduh P, Adekile AD (1998) Influence of alpha-thalassemia on cholelithiasis in SS patients with elevated Hb F. Acta Haematol 100:147-150
11. Harverfield EV, McKenzie CA, Forrester T, Bouzekri N, Harding R, Serjeant G, Walker T, Peto TEA, Ward R, Weatherall DJ (2005) UGT1A1 variation and gallstone formation in sickle cell disease. Blood 105:968-972
12. Liu Q, Thorland EC, Heit JA, Sommer SS (1997) Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res 7:389-398
13. Miller SA, Dykes DD, Polesky HF (1988) A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
14. Monaghan G, Ryan M, Seddon R, Hume R, Burchell B (1996) Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 347:578-581
15. Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boeham CD, Sexton JP, Waber PG, Giardina PJ (1982) Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphism in human β-globin gene cluster. Nature 296:627-631
16. Passon RG, Howard TA, Zimmerman SA, Schultz WH, Ware RE (2001) Influence of Bilirubin Uridine Diphosphate-Glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia. J Pediatr Hematol Oncol 23:448-451
17. Serjeant GR (2001) The emerging understanding of sickle cell disease. Br J Haematol 112:3-18
18. Steinberg MH, Adewoye AH (2006) Modifier genes and sickle cell anaemia. Curr Opin Hematol 13:131-136
19. Vasavda N, Menzel S, Kondaveeti S, Maytham E, Awogbade M, Bannister S, Cunningham J, Eichholz A, Daniel Y, Okpala I, Fulford T, Thein SW (2007) The linear effects of α-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease. Br J Haematol 138:263-270