Comparative genomics analysis of human sequence variation in the UGT1A gene cluster (Q46825406)

25 December 2017

title

Comparative genomics analysis of human sequence variation in the UGT1A gene cluster (English)

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25 December 2017

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M L Maitland

1

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25 December 2017

C Grimsley

2

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25 December 2017

H Kuttab-Boulos

3

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25 December 2017

D Witonsky

4

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25 December 2017

K E Kasza

5

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25 December 2017

L Yang

6

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25 December 2017

B A Roe

7

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25 December 2017

A Di Rienzo

8

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25 December 2017

publication date

1 January 2006

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25 December 2017

The Pharmacogenomics Journal

published in

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25 December 2017

volume

6

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25 December 2017

issue

1

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25 December 2017

page(s)

52-62

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25 December 2017

https://scigraph.springernature.com/pub.10.1038/sj.tpj.6500351

exact match

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cites work

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Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus

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Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation

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Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity

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The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

21 January 2018

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Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype

21 January 2018

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Haplotype structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population.

21 January 2018

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Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia

21 January 2018

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Evidence for a gene influencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study

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Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia

21 January 2018

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UGT1A1 variation and gallstone formation in sickle cell disease

21 January 2018

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Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?

21 January 2018

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Pharmacokinetic and pharmacodynamic evaluation of the topoisomerase inhibitor irinotecan in cancer patients.

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Relationship of baseline serum bilirubin to efficacy and toxicity of single-agent irinotecan in patients with metastatic colorectal cancer

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Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes

21 January 2018

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Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38).

21 January 2018

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UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity

21 January 2018

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Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan

21 January 2018

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UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer

21 January 2018

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Irinotecan dosing: does the CPT in CPT-11 stand for "Can't Predict Toxicity"?

21 January 2018

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A Gilbert's syndrome UGT1A1 variant confers susceptibility to tranilast-induced hyperbilirubinemia.

21 January 2018

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Identification of a pharmacogenetic effect by linkage disequilibrium mapping

21 January 2018

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Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1

21 January 2018

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Natural variation in human membrane transporter genes reveals evolutionary and functional constraints

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Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

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Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome

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Placental mammal diversification and the Cretaceous-Tertiary boundary

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The phenobarbital response enhancer module in the human bilirubin UDP-glucuronosyltransferase UGT1A1 gene and regulation by the nuclear receptor CAR.

21 January 2018

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On the number of segregating sites in genetical models without recombination

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Understanding human disease mutations through the use of interspecific genetic variation

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Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

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Characterization of single-nucleotide polymorphisms in coding regions of human genes

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Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

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Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology

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Advances in pharmacogenomics and individualized drug therapy: exciting challenges that lie ahead

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Six novel UDP-glucuronosyltransferase (UGT1A3) polymorphisms with varying activity

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SIFT: Predicting amino acid changes that affect protein function

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Predicting deleterious amino acid substitutions

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Accounting for human polymorphisms predicted to affect protein function

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An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology

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Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

21 January 2018

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Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.

21 January 2018

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Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels

21 January 2018

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Linkage disequilibrium in the human genome

21 January 2018

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Linkage disequilibrium patterns vary substantially among populations

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Results of Prevention of REStenosis with Tranilast and its Outcomes (PRESTO) trial

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Pharmacogenetics and drug development: the path to safer and more effective drugs

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Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups

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Genetic variants in the UGT1A6 enzyme, aspirin use, and the risk of colorectal adenoma

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UDP glucuronosyltransferase (UGT1A7) gene polymorphisms increase the risk of chronic pancreatitis and pancreatic cancer

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Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk

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Functional polymorphisms of UDP-glucuronosyltransferases 1A1, 1A6 and 1A8 are not involved in chronic pancreatitis

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UDP-glucuronosyltransferase 1A7 genetic polymorphisms are associated with hepatocellular carcinoma in japanese patients with hepatitis C virus infection

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Tobacco carcinogen-detoxifying enzyme UGT1A7 and its association with orolaryngeal cancer risk

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Whole-genome patterns of common DNA variation in three human populations

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MultiPipMaker and supporting tools: Alignments and analysis of multiple genomic DNA sequences

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PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

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LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA

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Estimation of linkage disequilibrium in randomly mating populations

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Polymorphisms of the human UDP-glucuronosyltransferase (UGT) 1A7 gene in colorectal cancer

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Genetic link of hepatocellular carcinoma with polymorphisms of the UDP-glucuronosyltransferase UGT1A7 gene

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Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II

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Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia

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Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase

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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.

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Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism

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Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II

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Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II

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Comprehensive UGT1A1 genotyping in a Japanese population by pyrosequencing

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Predicted homozygous mis-sense mutation in Gilbert's syndrome

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Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese

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Identifiers

DOI

10.1038/SJ.TPJ.6500351

1 reference

25 December 2017

PubMed ID

16314881

1 reference

25 December 2017