ArticleHuman genetics2011
A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 35 citations in OpenAlex.
- Roles of Uridine Diphosphoglucuronosyltransferase 2B Enzymes in Cancer Susceptibility and Treatment: A Review.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Transcriptome study exploring the mechanisms linking pollutants and breast cancer aggressiveness.Scientific reports · 2025Article
- Distilling functional variations for human UGT2B4 upstream region based on selection signals and implications for phenotypes of Neanderthal and Denisovan.Scientific reports · 2023Article
- Comprehensive Analysis Identifies the PPAR-Targeted Genes Associated with Ovarian Cancer Prognosis and Tumor Microenvironment.PPAR research · 2023Article
- Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor.Science advances · 2021Article
- Whole-exome Sequencing of Prostate Cancer in Sardinian Identify Recurrent UDP-glucuronosyltransferase Amplifications.Journal of Cancer · 2021Article
- Population genetic variation ofJournal of genetics · 2021Article
- Increased number of subclones in lung squamous cell carcinoma elicits overexpression of immune related genes.Translational lung cancer research · 2020Article
- SPIN1, negatively regulated by miR-148/152, enhances Adriamycin resistance via upregulating drug metabolizing enzymes and transporter in breast cancer.Journal of experimental & clinical cancer research : CR · 2018Article
- The genomic landscape at a late stage of stickleback speciation: High genomic divergence interspersed by small localized regions of introgression.PLoS genetics · 2018Article
- Selection in the Introgressed Regions of the Chimpanzee Genome.Genome biology and evolution · 2018Article
- Signatures of Long-Term Balancing Selection in Human Genomes.Genome biology and evolution · 2018Article
- Natural selection in a population of Drosophila melanogaster explained by changes in gene expression caused by sequence variation in core promoter regions.BMC evolutionary biology · 2016Article
- The Impact of Evolutionary Driving Forces on Human Complex Diseases: A Population Genetics Approach.Scientifica · 2016Review
- Correlations between ASCC3 Gene Polymorphisms and Chronic Hepatitis B in a Chinese Han Population.PloS one · 2015Article
- Article
- Glioma Association and Balancing Selection of ZFPM2.PloS one · 2015Article
- Polymorphisms in UGT2B4 and susceptibility to pancreatic cancer.International journal of clinical and experimental medicine · 2015Article
- Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver.Human molecular genetics · 2014Article
- The impact of natural selection on health and disease: uses of the population genetics approach in humans.Evolutionary applications · 2013Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
UDP-glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4) is an important metabolizing enzyme involved in the clearance of many xenobiotics and endogenous substrates, especially steroid hormones and bile acids. The HapMap data show that numerous SNPs upstream of UGT2B4 are in near-perfect linkage disequilibrium with each other and occur at intermediate frequency, indicating that this region might contain a target of natural selection. To investigate this possibility, we chose three regions (4.8 kb in total) for resequencing and observed a striking excess of intermediate-frequency alleles that define two major haplotypes separated by many mutation events and with little differentiation across populations, thus suggesting that the variation pattern upstream UGT2B4 is highly unusual and may be the result of balancing selection. We propose that this pattern is due to the maintenance of a regulatory polymorphism involved in the fine tuning of UGT2B4 expression so that heterozygous genotypes result in optimal enzyme levels. Considering the important role of steroid hormones in breast cancer susceptibility, we hypothesized that variation in this region could predispose to breast cancer. To test this hypothesis, we genotyped tag SNP rs13129471 in 1,261 patients and 825 normal women of African ancestry from three populations. The frequency comparison indicated that rs13129471 was significantly associated with breast cancer after adjusting for ethnicity [P = 0.003; heterozygous odds ratio (OR) 1.02, 95% confidence interval (CI) 0.81-1.28; homozygous OR 1.50, 95% CI 1.15-1.95]. Our results provide new insights into UGT2B4 sequence variation and indicate that a signal of natural selection may lead to the identification of disease susceptibility variants.
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