Tamara Božina, Ena Karačić, Lana Ganoci, Silvija Čuković-Čavka, Jozefina Palić, Nada Božina, Livija Šimičević
{"title":"克罗地亚人群中 UGT2B7 c.-161C>T 多态性频率。","authors":"Tamara Božina, Ena Karačić, Lana Ganoci, Silvija Čuković-Čavka, Jozefina Palić, Nada Božina, Livija Šimičević","doi":"10.2478/aiht-2022-73-3663","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>UGT2B7</i> polymorphisms in the Croatian population are limited. The aim of this study was to assess the frequency of the <i>UGT2B7 c.-161C>T</i> (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 <i>UGT2B7</i> c.<i>802C>T</i> (<i>UGT2B7*2</i>, 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<sub>®</sub> Drug Metabolism Genotyping Assay for <i>UGT2B7 c.-161C>T</i> (rs7668258). We found that 120 (23.95 %) participants were carriers of the <i>UGT2B7 c</i>.-<i>161CC</i> genotype and 255 (50.9 %) were heterozygous carriers (<i>UGT2B7 c</i>.-<i>161CT</i>), while 126 (25.15 %) were homozygous carriers of the variant allele (<i>UGT2B7 c</i>.-<i>161TT</i>). The frequency of the variant <i>UGT2B7 c</i>.-<i>161C</i>><i>T</i> allele in this study was T=0.506. The frequency of the <i>UGT2B7 c</i>.-<i>161C>T</i> allelic variants and genotypes in the Croatian population is similar to other European populations.</p>","PeriodicalId":55462,"journal":{"name":"Arhiv Za Higijenu Rada I Toksikologiju-Archives of Industrial Hygiene and Toxicology","volume":"73 4","pages":"303-307"},"PeriodicalIF":1.7000,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/df/3b/aiht-73-303.PMC9985345.pdf","citationCount":"0","resultStr":"{\"title\":\"<i>UGT2B7 c.-161C>T</i> polymorphism frequency in Croatian population.\",\"authors\":\"Tamara Božina, Ena Karačić, Lana Ganoci, Silvija Čuković-Čavka, Jozefina Palić, Nada Božina, Livija Šimičević\",\"doi\":\"10.2478/aiht-2022-73-3663\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 <i>UGT2B7</i> polymorphisms in the Croatian population are limited. The aim of this study was to assess the frequency of the <i>UGT2B7 c.-161C>T</i> (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 <i>UGT2B7</i> c.<i>802C>T</i> (<i>UGT2B7*2</i>, 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<sub>®</sub> Drug Metabolism Genotyping Assay for <i>UGT2B7 c.-161C>T</i> (rs7668258). We found that 120 (23.95 %) participants were carriers of the <i>UGT2B7 c</i>.-<i>161CC</i> genotype and 255 (50.9 %) were heterozygous carriers (<i>UGT2B7 c</i>.-<i>161CT</i>), while 126 (25.15 %) were homozygous carriers of the variant allele (<i>UGT2B7 c</i>.-<i>161TT</i>). The frequency of the variant <i>UGT2B7 c</i>.-<i>161C</i>><i>T</i> allele in this study was T=0.506. The frequency of the <i>UGT2B7 c</i>.-<i>161C>T</i> allelic variants and genotypes in the Croatian population is similar to other European populations.</p>\",\"PeriodicalId\":55462,\"journal\":{\"name\":\"Arhiv Za Higijenu Rada I Toksikologiju-Archives of Industrial Hygiene and Toxicology\",\"volume\":\"73 4\",\"pages\":\"303-307\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2022-12-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/df/3b/aiht-73-303.PMC9985345.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Arhiv Za Higijenu Rada I Toksikologiju-Archives of Industrial Hygiene and Toxicology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2478/aiht-2022-73-3663\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/12/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Arhiv Za Higijenu Rada I Toksikologiju-Archives of Industrial Hygiene and Toxicology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2478/aiht-2022-73-3663","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/12/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH","Score":null,"Total":0}
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.
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.