The HLA genomic loci map: expression, interaction, diversity and disease
By T. Shiina, K. Hosomichi, H. Inoko, Jerzy K. Kulski. Journal of Human Genetics, 2009
746 citations recorded by the source corpus.
The human leukocyte antigen (HLA) super-locus is a genomic region in the chromosomal position 6p21 that encodes the six classical transplantation HLA genes and at least 132 protein coding genes that have important roles in the regulation of the immune system as well as some other fundamental molecular and cellular processes. This small segment of the human genome has been associated with more than 100 different diseases, including common diseases, such as diabetes, rheumatoid arthritis, psoriasis, asthma and various other autoimmune disorders. The first complete and continuous HLA 3.6 Mb genomic sequence was reported in 1999 with the annotation of 224 gene loci, including coding and non-coding genes that were reviewed extensively in 2004. In this review, we present (1) an updated list of all the HLA gene symbols, gene names, expression status, Online Mendelian Inheritance in Man (OMIM) numbers, including new genes, and latest changes to gene names and symbols, (2) a regional analysis of the extended class I, class I, class III, class II and extended class II subregions, (3) a summary of the interspersed repeats (retrotransposons and transposons), (4) examples of the sequence diversity between different HLA haplotypes, (5) intra- and extra-HLA gene interactions and (6) some of the HLA gene expression profiles and HLA genes associated with autoimmune and infectious diseases. Overall, the degrees and types of HLA super-locus coordinated gene expression profiles and gene variations have yet to be fully elucidated, integrated and defined for the processes involved with normal cellular and tissue physiology, inflammatory and immune responses, and autoimmune and infectious diseases.
Subfields: Epidemiology, Immunology
View Paper: https://www.semanticscholar.org/paper/ccdbe52c631220ccb2f7654c434b02e25a457893
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
- Jerzy K. Kulski
- F. González-Galarza
- Kin Fai Au
- Eric E. Schadt
- Michael Snyder
- Sayed Mohammad Ebrahim Sahraeian
- Hagen U. Tilgner
- D. Middleton
Citations in the corpus
- HIBAG – HLA Genotype Imputation with Attribute Bagging (2013, neutral): “This region has been shown to be important in human disease, adverse drug reactions and organ transplantation.”
- Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis (2017, background): “…other genes with important roles in the regulation of the immune system as well as in some fundamental cellular processes and known to be associated with more than 100 diseases, including common ones such as diabetes, rheumatoid arthritis, psoriasis, asthma, and various autoimmune disorders 67 .”
- Allele frequency net: a database and online repository for immune gene frequencies in worldwide populations (2010, background): “The HLA system is recognized for its importance in transplantation (4), associations in infectious diseases (5), autoimmune diseases (6) and studies of diversity in populations (7).”
- Next-Generation Sequencing — An Overview of the History, Tools, and “Omic” Applications (2016, background): “Genotyping HLA genes of humans for clinical diagnosis or research by sequencing the entire gene [97, 128] or just the exons [129] is an example of targeted resequencing to identify polymorphisms that are important in tissue or cell matching for transplantation [130].”