Ann Lab Med.  2020 May;40(3):281-283. 10.3343/alm.2020.40.3.281.

Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia

• Kim JJ
• Oh J
• Kim Y
• Lee KA

• KMID: 2466026
• DOI: http://doi.org/10.3343/alm.2020.40.3.281

Abstract

No abstract available.

MeSH Terms

Humans
Hyperbilirubinemia*

Reference

1. Mackenzie PI, Miners JO, McKinnon RA. Polymorphisms in UDP glucuronosyltransferase genes: functional consequences and clinical relevance. Clin Chem Lab Med. 2000; 38:889–892. PMID: 11097345.

2. Bosma PJ, Seppen J, Goldhoorn B, Bakker C, Elferink RO, Chowdhury JR, et al. Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Biol Chem. 1994; 269:17960–17964. PMID: 8027054.

3. 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. 1998; 95:8170–8174. PMID: 9653159.

4. Guillemette C. Pharmacogenomics of human UDP-glucuronosyltransferase enzymes. Pharmacogenomics J. 2003; 3:136. PMID: 12815363.

5. Kim SY, Lee SH, Koh H, Lee ST, Ki CS, Kim JW, Chung K. A case of Crigler-Najjar syndrome type 2 diagnosed using genetic mutation analysis. Korean J Pediatr Gastroenterol Nutr. 2008; 11:219–222.

6. Ko JS, Chang JY, Moon JS, Yang HR, Seo JK. Molecular analysis of the UGT1A1 gene in Korean patients with Crigler-Najjar syndrome type II. Pediatr Gastroenterol Hepatol Nutr. 2014; 17:37–40. PMID: 24749086.

7. Li L, Deng G, Tang Y, Mao Q. Spectrum of UGT1A1 variations in Chinese patients with Crigler-Najjar syndrome type II. PLoS One. 2015; 10:e0126263. PMID: 25993113.

8. Takeuchi K, Kobayashi Y, Tamaki S, Ishihara T, Maruo Y, Araki J, et al. Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler–Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. J Gastroenterol Hepatol. 2004; 19:1023–1028. PMID: 15304120.

9. Ki CS, Lee KA, Lee SY, Kim HJ, Cho SS, Park JH, et al. Haplotype structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population. Clin Chem. 2003; 49:2078–2081. PMID: 14633881.

10. Gantla S, Bakker CTM, Deocharan B, Thummala NR, Zweiner J, Sinaasappel M, et al. Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. Am J Hum Genet. 1998; 62:585–592. PMID: 9497253.

11. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17:405–424. PMID: 25741868.