UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: Is there an association?

Pediatric Research

Volumn 72, Issue 2, 2012, Pages 169-173

  De Azevedo, Laura Alencastro ^a,b   Da Silveira, Themis Reverbel ^a,b   Carvalho, Clarissa Gutierrez ^a   De Castro, Simone Martins ^a   Giugliani, Roberto ^a,b   Matte, Ursula ^a,b  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUCURONOSYLTRANSFERASE 1A1; ORGANIC ANION TRANSPORTER; ORGANIC ANION TRANSPORTER 2; SLCO1B3 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BIRTH WEIGHT; BLOOD GROUP ABO INCOMPATIBILITY; CAPILLARY ELECTROPHORESIS; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; GESTATIONAL AGE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HOMOZYGOTE; HUMAN; HYDROLYSIS; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN JAUNDICE; PHOTOTHERAPY; PRIORITY JOURNAL; SEX DIFFERENCE;

BAYES THEOREM; BILIRUBIN; CASE-CONTROL STUDIES; ELECTROPHORESIS, CAPILLARY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GESTATIONAL AGE; GLUCURONOSYLTRANSFERASE; HUMANS; HYDROLYSIS; HYPERBILIRUBINEMIA, NEONATAL; INFANT, NEWBORN; LOGISTIC MODELS; MALE; ODDS RATIO; ORGANIC ANION TRANSPORTERS; ORGANIC ANION TRANSPORTERS, SODIUM-INDEPENDENT; POLYMORPHISM, GENETIC; SEX FACTORS;

EID: 84864370842     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1038/pr.2012.60     Document Type: Article

References (37)

1. Bhutani VK, Gourley GR, Adler S, Kreamer B, Dalin C, Johnson LH. Noninvasive measurement of total serum bilirubin in a multiracial predischarge newborn population to assess the risk of severe hyperbilirubinemia. Pediatrics 2000;106:E17.
2. AAP. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics 2004;114:297-316.
3. Watchko JF, Lin Z, Clark RH, Kelleher AS, Walker MW, Spitzer AR; Pediatrix Hyperbilirubinemia Study Group. Complex multifactorial nature of significant hyperbilirubinemia in neonates. Pediatrics 2009;124:e868-77.
4. Bosma P, Chowdhury JR, Jansen PH. Genetic inheritance of Gilbert's syndrome. Lancet 1995;346:314-5.
5. Maisels MJ. Jaundice. In: Avery GB, MacDonald MG, Seshia MMK, Mullet MD, eds. Avery's Neonatology: Pathophysiology & Management of the Newborn. Philadelphia: Lippincott Williams & Wilkins, 2005:768-846.
6. 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;95:8170-4. (Pubitemid 28326085)
7. Cui Y, Kniig J, Leier I, Buchholz U, Keppler D. Hepatic uptake of bilirubin and its conjugates by the human organic anion transporter SLC21A6. J Biol Chem 2001;276:9626-30.
8. Kalliokoski A, Niemi M. Impact of OATP transporters on pharmacokinetics. Br J Pharmacol 2009;158:693-705.
9. Watchko JF, Lin Z. Exploring the genetic architecture of neonatal hyperbilirubinemia. Semin Fetal Neonatal Med 2010;15:169-75.
10. Sanna S, Busonero F, Maschio A, et al. Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum Mol Genet 2009;18:2711-8.
11. Mezzacappa MA, Facchini FP, Pinto AC, et al. Clinical and genetic risk factors for moderate hyperbilirubinemia in Brazilian newborn infants. J Perinatol 2010;30:819-26.
12. Donovan EF, Lannon C, Bailit J, Rose B, Iams JD, Byczkowski T; Ohio Perinatal Quality Collaborative Writing Committee. A statewide initiative to reduce inappropriate scheduled births at 36(0/7)-38(6/7) weeks' gestation. Am J Obstet Gynecol 2010;202:243.e1-8.
13. Prachukthum S, Nunnarumit P, Pienvichit P, et al. Genetic polymorphisms in Thai neonates with hyperbilirubinemia. Acta Paediatr 2009;98:1106-10.
14. Wong FL, Boo NY, Ainoon O, Wang MK. Variants of organic anion transporter polypeptide 2 gene are not risk factors associated with severe neonatal hyperbilirubinemia. Malays J Pathol 2009;31:99-104.
15. Castro SM, Weber R, Matte U, Giugliani R. Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS. Genet Mol Biol 2007;30:10-3. (Pubitemid 46592658)
16. Castro S, Weber R, Dadalt V, Tavares V, Giugliani R. Prevalence of G6PD deficiency in newborns in the south of Brazil. J Med Screen 2006;13:85-6. (Pubitemid 43925922)
17. Saad ST, Salles TS, Carvalho MH, Costa FF. Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Brazil. Hum Hered 1997;47:17-21. (Pubitemid 27051100)
18. Compri MB, Saad ST, Ramalho AS. Genetico-epidemiological and molecular investigation of G-6-PD deficiency in a Brazilian community. Cad Saude Publica 2000;16:335-42.
19. Weimer TA, Salzano FM, Westwood B, Beutler E. Molecular characterization of glucose-6-phosphate dehydrogenase variants from Brazil. Hum Biol 1993;65:41-7.
20. Huang MJ, Kua KE, Teng HC, Tang KS, Weng HW, Huang CS. Risk factors for severe hyperbilirubinemia in neonates. Pediatr Res 2004;56:682-9.
21. Zhang HX, Zhao X, Yang Z, et al. OATP 1B1 T521C/A388G is an important polymorphism gene related to neonatal hyperbilirubinemia. Zhonghua Er Ke Za Zhi 2010;48:650-5.
22. Strassburg CP, Lankisch TO, Manns MP, Ehmer U. Family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A): from Gilbert's syndrome to genetic organization and variability. Arch Toxicol 2008;82:415-33.
23. Carvalho CG, Castro SM, Santin AP, de Azevedo LA, Pereira ML, Giugliani R. Polymorphic variants of UGT1A1 in neonatal jaundice in southern Brazil. J Trop Pediatr 2010;56:366-7.
24. Kohlrausch FB, de Crsia Estrela R, Barroso PF, Suarez-Kurtz G. The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men. Br J Clin Pharmacol 2010;69:95-8.
25. Niemi M. Role of OATP transporters in the disposition of drugs. Pharmacogenomics 2007;8:787-802. (Pubitemid 47288978)
26. Kang TW, Kim HJ, Ju H, et al. Genome-wide association of serum bilirubin levels in Korean population. Hum Mol Genet 2010;19:3672-8.
27. Wang P, Kim RB, Chowdhury JR, Wolkoff AW. The human organic anion transport protein SLC21A6 is not sufficient for bilirubin transport. J Biol Chem 2003;278:20695-9. (Pubitemid 36806371)
28. Zucker SD, Goessling W, Hoppin AG. Unconjugated bilirubin exhibits spontaneous diffusion through model lipid bilayers and native hepatocyte membranes. J Biol Chem 1999;274:10852-62. (Pubitemid 29191067)
29. Pimenta JR, Zuccherato LW, Debes AA, et al. Color and genomic ancestry in Brazilians: a study with forensic microsatellites. Hum Hered 2006;62:190-5. (Pubitemid 44971645)
30. Sortica VD, Ojopi EB, Genro JP, et al. Influence of Genomic Ancestry on the Distribution of SLCO1B1, SLCO1B3 and ABCB1 Gene Polymorphisms among Brazilians. Basic Clin Pharmacol Toxicol 2012;110:460-8.
31. Mandelbrot L, Mazy F, Floch-Tudal C, et al. Atazanavir in pregnancy: impact on neonatal hyperbilirubinemia. Eur J Obstet Gynecol Reprod Biol 2011;157:18-21.
32. Castro SM, Weber R, Matte U, et al. The use of LR values to check the best fit of cut-off values in G6PD deficient cases. Clin Biochem 2007;40:496-8. (Pubitemid 46483330)
33. Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991;19:5444.
34. Cittadella R, Civitelli D, Manna I, et al. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily. Ann Hum Genet 1997;61(Pt 3):229-34. (Pubitemid 27341686)
35. Bouanga JC, Mou R, Pru C, Wajcman H, Feingold J, Galactos F. Glucose-6-phosphate dehydrogenase deficiency and homozygous sickle cell disease in Congo. Hum Hered 1998;48:192-7. (Pubitemid 28362460)
36. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68:978-89. (Pubitemid 32289743)
37. Stephens M, Scheet P. Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 2005;76:449-62. (Pubitemid 40250525)