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Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han

In this report, we describe combined polymorphisms of the UGT1A9, UGT1A7 and UGT1A1 genes in 100 unrelated, healthy Chinese Han subjects. The functional regions of these genes were sequenced and comprehensively analyzed for genetic polymorphisms. Thirty variants were detected, including five novel f...

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Autores principales: Zhang, Xiaoqing, Ao, Guokun, Wang, Yuewen, Yan, Wei, Wang, Min, Chen, Erfei, Yang, Fangfang, Yang, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3389530/
https://www.ncbi.nlm.nih.gov/pubmed/22888291
http://dx.doi.org/10.1590/S1415-47572012005000036
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author Zhang, Xiaoqing
Ao, Guokun
Wang, Yuewen
Yan, Wei
Wang, Min
Chen, Erfei
Yang, Fangfang
Yang, Jin
author_facet Zhang, Xiaoqing
Ao, Guokun
Wang, Yuewen
Yan, Wei
Wang, Min
Chen, Erfei
Yang, Fangfang
Yang, Jin
author_sort Zhang, Xiaoqing
collection PubMed
description In this report, we describe combined polymorphisms of the UGT1A9, UGT1A7 and UGT1A1 genes in 100 unrelated, healthy Chinese Han subjects. The functional regions of these genes were sequenced and comprehensively analyzed for genetic polymorphisms. Thirty variants were detected, including five novel forms. Tentative functional predictions indicated that a Cys → Arg substitution at position 277 in the UGT1A7 gene could alter the protein conformation and that 12460T > G in the 3′UTR might influence protein translation through specifically expressed miRNAs. UGT1A9*1b was a major functional variant in the subjects examined whereas the *1f allele had a frequency of only 0.5%. A special functional haplotype (GAGAAC) was identified for UGT1A9, 1A7 and 1A1. These findings provide fundamental genetic information that may serve as a basis for larger studies designed to assess the metabolic phenotypes associated with UGT1A polymorphisms. They also provide important data for the implementation of personalized medicine in Chinese Han.
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spelling pubmed-33895302012-08-10 Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han Zhang, Xiaoqing Ao, Guokun Wang, Yuewen Yan, Wei Wang, Min Chen, Erfei Yang, Fangfang Yang, Jin Genet Mol Biol Human and Medical Genetics In this report, we describe combined polymorphisms of the UGT1A9, UGT1A7 and UGT1A1 genes in 100 unrelated, healthy Chinese Han subjects. The functional regions of these genes were sequenced and comprehensively analyzed for genetic polymorphisms. Thirty variants were detected, including five novel forms. Tentative functional predictions indicated that a Cys → Arg substitution at position 277 in the UGT1A7 gene could alter the protein conformation and that 12460T > G in the 3′UTR might influence protein translation through specifically expressed miRNAs. UGT1A9*1b was a major functional variant in the subjects examined whereas the *1f allele had a frequency of only 0.5%. A special functional haplotype (GAGAAC) was identified for UGT1A9, 1A7 and 1A1. These findings provide fundamental genetic information that may serve as a basis for larger studies designed to assess the metabolic phenotypes associated with UGT1A polymorphisms. They also provide important data for the implementation of personalized medicine in Chinese Han. Sociedade Brasileira de Genética 2012 2012-05-24 /pmc/articles/PMC3389530/ /pubmed/22888291 http://dx.doi.org/10.1590/S1415-47572012005000036 Text en Copyright © 2012, Sociedade Brasileira de Genética. License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Human and Medical Genetics
Zhang, Xiaoqing
Ao, Guokun
Wang, Yuewen
Yan, Wei
Wang, Min
Chen, Erfei
Yang, Fangfang
Yang, Jin
Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han
title Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han
title_full Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han
title_fullStr Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han
title_full_unstemmed Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han
title_short Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han
title_sort genetic variants and haplotypes of the ugt1a9, 1a7 and 1a1 genes in chinese han
topic Human and Medical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3389530/
https://www.ncbi.nlm.nih.gov/pubmed/22888291
http://dx.doi.org/10.1590/S1415-47572012005000036
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