克罗地亚人群中 UGT2B7 c.-161C>T 多态性频率。

IF 1.7 4区 医学 Q3 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Arhiv Za Higijenu Rada I Toksikologiju-Archives of Industrial Hygiene and Toxicology Pub Date : 2022-12-30 eCollection Date: 2022-12-01 DOI:10.2478/aiht-2022-73-3663
Tamara Božina, Ena Karačić, Lana Ganoci, Silvija Čuković-Čavka, Jozefina Palić, Nada Božina, Livija Šimičević
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引用次数: 0

摘要

二磷酸尿苷葡萄糖醛酸转移酶-2B7(UGT2B7)是一种通过葡萄糖醛酸化作用消除多种异生物的酶,在肠道、肾脏、肠道和大脑中均有表达。然而,有关克罗地亚人口中 UGT2B7 多态性频率的数据非常有限。本研究旨在评估克罗地亚人群中 UGT2B7 c.-161C>T (rs7668258) 多态性的频率,并将其与其他人群中报告的频率进行比较。该多态性与 UGT2B7 c.802C>T(UGT2B7*2,rs7439366)变异处于完全连锁不平衡状态,而后者在临床医学中非常重要。该研究报告了萨格勒布大学医院中心 501 名参与者的数据。所有数据均为回顾性收集和分析。基因分型是通过实时聚合酶链式反应(PCR),使用 TaqMan® 药物代谢基因分型试剂盒对 UGT2B7 c.-161C>T (rs7668258) 进行的。我们发现,120 人(23.95%)是 UGT2B7 c.-161CC 基因型携带者,255 人(50.9%)是杂合子携带者(UGT2B7 c.-161CT),126 人(25.15%)是变异等位基因的同源携带者(UGT2B7 c.-161TT)。本研究中 UGT2B7 c.-161C>T 等位基因变异的频率为 T=0.506。克罗地亚人群中 UGT2B7 c.-161C>T 等位基因变异和基因型的频率与其他欧洲人群相似。
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UGT2B7 c.-161C>T polymorphism frequency in Croatian population.

Uridine diphosphate glucuronosyltransferase-2B7 (UGT2B7), enzyme responsible for the elimination of a number of xenobiotics through glucuronidation, is expressed in the gut, kidneys, intestines, and brain. However, data on the frequency of UGT2B7 polymorphisms in the Croatian population are limited. The aim of this study was to assess the frequency of the UGT2B7 c.-161C>T (rs7668258) polymorphism in the Croatian population and to compare it with reported frequencies in other populations. This polymorphism is in complete linkage disequilibrium with the UGT2B7 c.802C>T (UGT2B7*2, rs7439366) variant, which is important in clinical medicine. The study reports data of 501 participants from University Hospital Centre Zagreb. All data were collected and analysed retrospectively. Genotyping was performed by real-time polymerase chain reaction (PCR) using the TaqMan® Drug Metabolism Genotyping Assay for UGT2B7 c.-161C>T (rs7668258). We found that 120 (23.95 %) participants were carriers of the UGT2B7 c.-161CC genotype and 255 (50.9 %) were heterozygous carriers (UGT2B7 c.-161CT), while 126 (25.15 %) were homozygous carriers of the variant allele (UGT2B7 c.-161TT). The frequency of the variant UGT2B7 c.-161C>T allele in this study was T=0.506. The frequency of the UGT2B7 c.-161C>T allelic variants and genotypes in the Croatian population is similar to other European populations.

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来源期刊
Arhiv Za Higijenu Rada I Toksikologiju-Archives of Industrial Hygiene and Toxicology
Arhiv Za Higijenu Rada I Toksikologiju-Archives of Industrial Hygiene and Toxicology PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH-TOXICOLOGY
CiteScore
3.50
自引率
4.80%
发文量
26
审稿时长
6-12 weeks
期刊介绍: Archives of Industrial Hygiene and Toxicology (abbr. Arh Hig Rada Toksikol) is a peer-reviewed biomedical scientific quarterly that publishes contributions relevant to all aspects of environmental and occupational health and toxicology.
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