Polymorphisms of uridine-diphosphoglucuronosyltransferase 1A7 gene in Taiwan Chinese

Huang, May-Jen; Yang, Sien–Sing; Lin, Min-Shung; Huang, Ching‐Shan

doi:10.3748/wjg.v11.i6.797

Cited by 21 publications

(23 citation statements)

References 33 publications

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“…Very recently, we found that Taiwanese differed from Caucasians and Japanese with respect to the allele frequencies of the UGT1A7 gene and the UGT1A7 * 4 (Asn 129 Arg 131 Arg 208 ) allele, with 0.017 in frequency in Caucasians (15), was not detected in our study subjects (21). We also observed that the functional polymorphisms at nucleotide 387 (T to G) (Asn 129 Lys) was associated with SNPs at nucleotides 391 (C to A) (Arg 131 Lys) and 392 (G to A) (Arg 131 Lys) in one of the variant haplotypes and the nucleotide changes at positions 387, 391, 392, and 622 (T to C) (Trp 208 Arg) were in linkage in another variant haplotype (21).…”

Section: Introductioncontrasting

confidence: 69%

UDP-Glucuronosyltransferase 1A7 Genetic Polymorphisms Are Associated with Hepatocellular Carcinoma Risk and Onset Age

Tseng

Tang

et al. 2005

Am J Gastroenterology

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Section: Introductioncontrasting

confidence: 69%

UDP-Glucuronosyltransferase 1A7 Genetic Polymorphisms Are Associated with Hepatocellular Carcinoma Risk and Onset Age

Tseng

Tang

et al. 2005

Am J Gastroenterology

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“…Here we corroborated haplotype patterns and frequencies both within genes and between genes, and have established haplotypes across the entire UGT1A locus in a Caucasian and an Asian population. Previous reports investigated haplotype patterns for some of the UGT1As, either individually or in combination with other UGT1As (Lampe, et al, 1999;Guillemette, et al, 2000b;Ando, et al, 2002;Huang, et al, 2002;Saeki, et al, 2002;Villeneuve, et al, 2003;Girard, et al, 2004;Iwai, et al, 2004;Nagar, et al, 2004;Sai, et al, 2004;Verlaan, et al, 2004;Huang, et al, 2005;Innocenti, et al, 2005;Mori, et al, 2005;Saeki, et al, 2005a;Saeki, et al, 2005b;Saeki, et al, 2006). Decreasing LD with distance between UGT1A1 promoter polymorphisms was observed in African-Americans (Innocenti, et al, 2002;Maitland, et al, 2006) and differences in haplotype patterns in three ethnic groups were reported (Kaniwa, et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

Genetic variability, haplotypes, and htSNPs for exons 1 at the humanUGT1Alocus

Thomas

Lampe

et al. 2006

Hum. Mutat.

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UDP-Glucuronosyltransferases (UGTs) are a superfamily of enzymes responsible for glucuronidation of xenobiotics and endobiotics. Genetic polymorphisms have been identified in the promoter and exonic regions of several UGT genes. The UGT1As on chromosome 2q37 have unique exons 1 but share the remainder of their coding sequence. We screened exon 1 of each of the nine functional UGT1As in Asians (n=46) and Caucasians (n=92) with the aim of determining linkage disequilibrium (LD) and haplotypes across the entire locus in both populations. For polymorphisms in UGT 1A3, 1A4, 1A5, 1A7, and 1A8, we observed significant differences in the allele frequency between the two populations. The haplotype block structure across the UGT1A locus was constructed using all 83 polymorphisms and showed four and five haplotype blocks in Caucasians and Asians, respectively. There was long-distance LD between UGT pairs: 1A8 and 1A10; 1A1 and 1A3; 1A1 and 1A6; 1A6 and 1A7; and 1A7 and 1A9. Whereas both ethnic groups shared some haplotype-tagging SNPs (htSNPs), Caucasians and Asians also had unique htSNPs. This was partly due to the fact that rare variants (<5% allele frequency) were included in our analyses. Haplotypes with frequencies >5% represented only 60% of Caucasian and 65% of Asian UGT1A haplotypes. Differences in haplotype distribution patterns suggest individual and ethnic differences in glucuronidation capacity.

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“…In Taiwanese, carriage of the variant UGT1A1 gene at nt-211 (a risk factor of unconjugated hyperbilirubinemia) was found to be highly associated with the carriage of UGT1A7*3 allele [32]. UGT1A7*3 represents the allele that features the least benzopyrene (a carcinogen)-metabolite glucuronidation activity [33], and polymorphism in the UGT1A1 gene may cause decreased glucuronidation function for some carcinogens, such as estrogen [31], and therefore they are thought by a number of researchers to be risk factors for the development of cancers [31,33,34].…”

Section: Hereditary Unconjugated Hyperbilirubinemia and Cancer Suscepmentioning

confidence: 98%

Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese

Huang

2005

J Biomed Sci

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In bilirubin metabolism, increased destruction of erythrocytes, defect in the function of organic anion transporter polypeptide 2 (OATP2) or UDP-glucuronosyltransferase 1A1 (UGT1A1) may result in unconjugated hyperbilirubinemia. Although glucose-6-phosphate dehydrogenase (G6PD) deficiency is known to be associated with the development of neonatal hyperbilirubinemia, it was observed that in neonates severe hyperbilirubinemia caused by G6PD deficiency, without associated polymorphisms in the UGT1A1 or the OATP2 gene, was preventable. Variations at the nucleotide (nt) 388 of OATP2 gene and nt-211 of UGT1A1 gene, were found to be a risk factor for severe hyperbilirubinemia amongst Taiwanese neonates, respectively. G6PD deficiency, variations at nts 388 and 521 of OATP2 gene, and variations at nt-211 and in the promoter area of UGT1A1 gene were reported to be the risk factors for the occurrence of mild hyperbilirubinemia amongst Taiwanese adults. The status of the haplotypes of G6PD, OATP2, and UGT1A1 genes affected the odds ratio and the bilirubin levels in the hyperbilirubinemic subjects. Moreover, carriage of the variant-211 UGT1A1 allele, as well as UGT1A7*3 allele, was demonstrated to represent a risk factor for the development of, and a determinant for, metastases associated with Taiwanese colorectal-cancer patients. Further investigation is warranted to evaluate this phenomenon.

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Polymorphisms of uridine-diphosphoglucuronosyltransferase 1A7 gene in Taiwan Chinese

Cited by 21 publications

References 33 publications

UDP-Glucuronosyltransferase 1A7 Genetic Polymorphisms Are Associated with Hepatocellular Carcinoma Risk and Onset Age

UDP-Glucuronosyltransferase 1A7 Genetic Polymorphisms Are Associated with Hepatocellular Carcinoma Risk and Onset Age

Genetic variability, haplotypes, and htSNPs for exons 1 at the humanUGT1Alocus

Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese

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