ArticleHuman genetics2009
Identification of common genetic variants that account for transcript isoform variation between human populations.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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Who cites it
60 citing papers in PubMed, 84 citations in OpenAlex.
- Trial
- Variation of microRNA expression in the human placenta driven by population identity and sex of the newborn.BMC genomics · 2021Article
- Homozygous carriers of the TCF7L2 rs7903146 T-allele show altered postprandial response in triglycerides and triglyceride-rich lipoproteins.Scientific reports · 2017Article
- The roles of RNA processing in translating genotype to phenotype.Nature reviews. Molecular cell biology · 2017Review
- Article
- Simultaneous genome-wide gene expression and transcript isoform profiling in the human malaria parasite.PloS one · 2017Article
- Characterization of visceral and subcutaneous adipose tissue transcriptome in pregnant women with and without spontaneous labor at term: implication of alternative splicing in the metabolic adaptations of adipose tissue to parturition.Journal of perinatal medicine · 2016Article
- Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.Scientific reports · 2016Article
- Transcript Isoform Variation Associated with Cytosine Modification in Human Lymphoblastoid Cell Lines.Genetics · 2016Article
- Article
- Article
- Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.PLoS genetics · 2015Article
- In vitro human cell line models to predict clinical response to anticancer drugs.Pharmacogenomics · 2015Review
- Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels.American journal of human genetics · 2014Article
- Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture.PLoS genetics · 2014Article
- The contribution of the functional IL6R polymorphism rs2228145, eQTLs and other genome-wide SNPs to the heritability of plasma sIL-6R levels.Behavior genetics · 2014Article
- Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.PLoS genetics · 2014Article
- Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway.Human mutation · 2014Article
- Integrative genomics and transcriptomics analysis of human embryonic and induced pluripotent stem cells.BioData mining · 2014Article
- Gene-environment interactions and health inequalities: views of underserved communities.Journal of community genetics · 2013Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
Abstract
In addition to the differences between populations in transcriptional and translational regulation of genes, alternative pre-mRNA splicing (AS) is also likely to play an important role in regulating gene expression and generating variation in mRNA and protein isoforms. Recently, the genetic contribution to transcript isoform variation has been reported in individuals of recent European descent. We report here results of an investigation of the differences in AS patterns between human populations. AS patterns in 176 HapMap lymphoblastoid cell lines derived from individuals of European and African ancestry were evaluated using the Affymetrix GeneChip Human Exon 1.0 ST Array. A variety of biological processes such as response to stimulus and transcription were found to be enriched among the differentially spliced genes. The differentially spliced genes also include some involved in human diseases that have different prevalence or susceptibility between populations. The genetic contribution to the population differences in transcript isoform variation was then evaluated by a genome-wide association using the HapMap genotypic data on single nucleotide polymorphisms (SNPs). The results suggest that local and distant genetic variants account for a substantial fraction of the observed transcript isoform variation between human populations. Our findings provide new insights into the complexity of the human genome as well as the health disparities between the two populations.
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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.