rs294775 is a cis-regulatory SNP for human UGT2B10.

Clin Exp Pharmacol Physiol

State Key Laboratory for Conservation and Utilization of Bio-Resources in Yunnan, Yunnan University, Kunming, Yunnan, China.

Published: June 2018

UGT2B10 is an important metabolism enzyme in human body and its substrates include multiple amine-containing compounds, especially nicotine, tamoxifen and multiple antidepressants. Multiple common SNPs have been observed in its promoter region, but their role in expression regulation has never been investigated. In this preliminary study, we identified a novel cis-regulatory SNP, rs294775, for UGT2B10 by plasmid construction, mutagenesis, and luciferase assay, whose mechanism was also investigated. Our work provides a basis for further pharmacogenetics study.

Download full-text PDF

Source
http://dx.doi.org/10.1111/1440-1681.12925DOI Listing

Publication Analysis

Top Keywords

cis-regulatory snp
8
rs294775 cis-regulatory
4
snp human
4
human ugt2b10
4
ugt2b10 ugt2b10
4
ugt2b10 metabolism
4
metabolism enzyme
4
enzyme human
4
human body
4
body substrates
4

Similar Publications

Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.

Clin Epigenetics

December 2024

Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.

Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.

View Article and Find Full Text PDF

Natural variation in an HD-ZIP factor identifies its role in controlling apple leaf cuticular wax deposition.

Dev Cell

December 2024

State Key Laboratory for Crop Stress Resistance and High-Efficiency Production, College of Horticulture, Northwest A&F University, Yangling, China. Electronic address:

Natural variation is an invaluable genetic resource for plant trait improvement. Here, we performed a genome-wide association study (GWAS) analysis and identified MdHDG5, which controls apple leaf cuticular wax. An A-to-G single-nucleotide polymorphism (SNP) on the HDG5 promoter is associated with HDG5 expression and hexacosanol content (a component of leaf cuticular wax).

View Article and Find Full Text PDF

Genome-wide association study of subfoveal choroidal thickness in a longitudinal cohort of older adults.

Sci Rep

October 2024

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 173-82 Gumi-ro, Bundang-gu, Seongnam-si, 13620, Gyeonggi-do, Republic of Korea.

Article Synopsis
  • * Significant associations were found with three specific single nucleotide polymorphisms (SNPs), with two SNPs (rs1916762 and rs7587019) confirmed to affect choroidal thickness, while one (rs13320098) did not show consistent results.
  • * The gene FAM124B, located near the identified SNPs, was found to be crucial as its expression in endothelial cells correlated with changes in vascular health, suggesting it plays a role in subfoveal choroidal thickness in aging
View Article and Find Full Text PDF
Article Synopsis
  • Recent genomic studies have found common genetic factors among alcohol, opioid, tobacco, and cannabis use disorders, though the specific genes and variants involved remain largely unknown.
  • Researchers utilized advanced genomic datasets from various human cell types to investigate genomic regions related to these disorders, identifying significant heritability enrichments in specific cell types, especially in iPSC-derived cortical neurons and pancreatic beta cells.
  • The study also uncovered important genetic connections between substance use disorders and Type 2 diabetes, suggesting that certain cell types play crucial roles in understanding the mechanisms behind these disorders.
View Article and Find Full Text PDF
Article Synopsis
  • Kidney disease is largely influenced by genetics, yet the specific genes and mechanisms involved are still not fully understood; a recent GWAS identified 462 genetic loci associated with kidney function.
  • Researchers used single-cell ATAC-seq maps to explore chromatin accessibility in the kidney, finding that regulatory elements in kidney tubule epithelial cells accounted for the majority of genetic heritability related to kidney function.
  • The study further utilized CRISPR interference to demonstrate how inherited variations in regulatory elements impact gene expression in tubule epithelial cells, ultimately linking these differences to a predisposition for kidney disease in humans.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!