ArticleAmerican journal of human genetics2001
Sequence variation and linkage disequilibrium in the human T-cell receptor beta (TCRB) locus.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 57 citations in OpenAlex.
- T cell receptor beta germline variability is revealed by inference from repertoire data.Genome medicine · 2022Article
- Enhancing diagnosis of T-cell lymphoma using non-recombined T-cell receptor sequences.Frontiers in oncology · 2022Article
- Article
- Genetic associations of T cell cancer immune response-related genes with T cell phenotypes and clinical outcomes of early-stage lung cancer.Journal for immunotherapy of cancer · 2020Article
- Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans.Life science alliance · 2019Article
- Somatic T-cell Receptor Diversity in a Chronic Kidney Disease PatientPopulation Linked to Electronic Health Records.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2018Article
- The shape of the lymphocyte receptor repertoire: lessons from the B cell receptor.Frontiers in immunology · 2013Review
- Immune parameters to consider when choosing T-cell receptors for therapy.Frontiers in immunology · 2013Article
- Allelic polymorphism in the T cell receptor and its impact on immune responses.The Journal of experimental medicine · 2010Article
- Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus.Human genetics · 2006Article
- The effect of single-nucleotide polymorphism marker selection on patterns of haplotype blocks and haplotype frequency estimates.American journal of human genetics · 2005Article
- Sequence analysis of the mannose-binding lectin (MBL2) gene reveals a high degree of heterozygosity with evidence of selection.Genes and immunity · 2004Article
- Novel procedures for high-throughput analysis of a frequent insertion-deletion polymorphism in the human T-cell receptor beta locus.Immunogenetics · 2004Article
- Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations.American journal of human genetics · 2004Article
- Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium.American journal of human genetics · 2004Article
- Selection of genetic markers for association analyses, using linkage disequilibrium and haplotypes.American journal of human genetics · 2003Article
- Randomly distributed crossovers may generate block-like patterns of linkage disequilibrium: an act of genetic drift.Human genetics · 2003Article
- Extensive linkage disequilibrium, a common 16.7-kilobase deletion, and evidence of balancing selection in the human protocadherin alpha cluster.American journal of human genetics · 2003Article
- Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation.American journal of human genetics · 2002Article
- Human diallelic insertion/deletion polymorphisms.American journal of human genetics · 2002Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
The T-cell receptor (TCR) plays a central role in the immune system, and > 90% of human T cells present a receptor that consists of the alpha TCR subunit (TCRA) and the beta subunit (TCRB). Here we report an analysis of 63 variable genes (BV), spanning 553 kb of TCRB that yielded 279 single-nucleotide polymorphisms (SNPs). Samples were drawn from 10 individuals and represent four populations-African American, Chinese, Mexican, and Northern European. We found nine variants that produce nonfunctional BV segments, removing those genes from the TCRB genomic repertoire. There was significant heterogeneity among population samples in SNP frequency (including the BV-inactivating sites), indicating the need for multiple-population samples for adequate variant discovery. In addition, we observed considerable linkage disequilibrium (LD) (r(2) > 0.1) over distances of approximately 30 kb in TCRB, and, in general, the distribution of r(2) as a function of physical distance was in close agreement with neutral coalescent simulations. LD in TCRB showed considerable spatial variation across the locus, being concentrated in "blocks" of LD; however, coalescent simulations of the locus illustrated that the heterogeneity of LD we observed in TCRB did not differ markedly from that expected from neutral processes. Finally, examination of the extended genotypes for each subject demonstrated homozygous stretches of >100 kb in the locus of several individuals. These results provide the basis for optimization of locuswide SNP typing in TCRB for studies of genotype-phenotype association.
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