ArticleGenome research2006
Functional genomics of membrane transporters in human populations.
Article in Genome research, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00187668 (Study Of PHarmacogenetics in Ethnically Diverse Populations), which is not on this map. Cited by 25 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Study Of PHarmacogenetics in Ethnically Diverse Populations (SOPHIE Study)
Who cites it
25 citing papers in PubMed.
- Pharmacogenomics with red cells: a model to study protein variants of drug transporter genes.Vox sanguinis · 2021Review
- Article
- Alternative Splicing: Expanding Diversity in Major ABC and SLC Drug Transporters.The AAPS journal · 2017Review
- Inter-Subject Variability in OCT1 Activity in 27 Batches of Cryopreserved Human Hepatocytes and Association with OCT1 mRNA Expression and Genotype.Pharmaceutical research · 2017Article
- A Dual Model for Prioritizing Cancer Mutations in the Non-coding Genome Based on Germline and Somatic Events.PLoS computational biology · 2015Article
- Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1.Genome medicine · 2015Article
- Trichloroethylene: Mechanistic, epidemiologic and other supporting evidence of carcinogenic hazard.Pharmacology & therapeutics · 2014Review
- Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency.Clinical genetics · 2012Article
- OATPs, OATs and OCTs: the organic anion and cation transporters of the SLCO and SLC22A gene superfamilies.British journal of pharmacology · 2012Review
- Genetic variants of human organic anion transporter 4 demonstrate altered transport of endogenous substrates.American journal of physiology. Renal physiology · 2010Article
- Pharmacogenomics of membrane transporters: past, present and future.Pharmacogenomics · 2010Article
- Human genetic variation recognizes functional elements in noncoding sequence.Genome research · 2010Article
- The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.Clinical pharmacology and therapeutics · 2010Review
- Pharmacogenomic discovery using cell-based models.Pharmacological reviews · 2009Review
- Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy.Pharmacogenomics · 2009Article
- Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function.The pharmacogenomics journal · 2009Article
- Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2).The Journal of pharmacology and experimental therapeutics · 2009Article
- Genetic variation in drug transporters in ethnic populations.Clinical pharmacology and therapeutics · 2008Review
- Novel variants in human Aquaporin-4 reduce cellular water permeability.Human molecular genetics · 2008Article
- Creating and evaluating genetic tests predictive of drug response.Nature reviews. Drug discovery · 2008Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
Although considerable progress has been made toward characterizing human DNA sequence variation, there remains a deficiency in information on human phenotypic variation at the single-gene level. We systematically analyzed the function of all protein-altering variants of eleven membrane transporters in heterologous expression systems. Coding-region variants were identified by screening DNA from a large sample (n = 247-276) of ethnically diverse subjects. In total, we functionally analyzed 88 protein-altering variants. Fourteen percent of the polymorphic variants (defined as variants with allele frequencies > or =1% in at least one major ethnic group) had no activity or significantly reduced function. Decreased function variants had significantly lower allele frequencies and were more likely to alter evolutionarily conserved amino acid residues. However, variants at evolutionarily conserved positions with approximately normal activity in cellular assays were also at significantly lower allele frequencies, suggesting that some variants with apparently normal activity in biochemical assays may influence occult functions or quantitative degrees of function that are important in human fitness but not measured in these assays. For example, eight (14%) of the 58 variants for which we had measured the transport of at least two substrates showed substrate-specific defects in transport. These variants and the reduced function variants provide plausible candidates for disease susceptibility or variation in clinical drug response.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.