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Multiple variants in UGT1A1 gene are factors to develop indirect hyper-bilirubinemia

  
@article{HBSN4312,
	author = {Rei-Ting Hu and Nai-Yuan Wang and May-Jen Huang and Ching-Shan Huang and Ding-Shinn Chen and Sien-Sing Yang},
	title = {Multiple variants in UGT1A1 gene are factors to develop indirect hyper-bilirubinemia},
	journal = {Hepatobiliary Surgery and Nutrition},
	volume = {3},
	number = {4},
	year = {2014},
	keywords = {},
	abstract = {Most Taiwanese patients with hyper-bilirubinemia have genetic abnormalities in the uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) gene beyond the variants in the TATA box upstream of UGT1A1 associated with Gilbert’s syndrome. To investigate the role of UGT1A1 in the pathogenesis of indirect hyper-bilirubinemia, we prospectively studied 97 consecutive patients with indirect hyper-bilirubinemia for genotypes of promoter [(TA)6TAA6, (TA)7TAA7] and coding region [nucleotide (nt)-211, nt-686, nt-1,091 and nt-1,456] of UGT1A1. Thirty-six of the patients (45.6%) were found to have Gilbert’s syndrome with 7/7 genotype; among them, 14 also carried variants at nt-686. Forty-two patients (43.3%) had the 6/7 genotype; among them, 36 patients were found to have one or more variants in the coding region. Patients with higher serum total bilirubin are associated with higher likelihood of carrying Gilbert’s syndrome genotype: 60.0% (P=0.007) patients with serum total bilirubin level ≥2.5 mg/dL carried the Gilbert’s syndrome genotype, while only 23.9% of patients with serum total bilirubin level },
	issn = {2304-389X},	url = {https://hbsn.amegroups.org/article/view/4312}
}