Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes
Abstract The human Major Histocompatibility Complex (MHC) or Human Leukocyte Antigen
(HLA) super-locus is a highly polymorphic genomic region that encodes more than 140 …
(HLA) super-locus is a highly polymorphic genomic region that encodes more than 140 …
The MHC in the era of next-generation sequencing: Implications for bridging structure with function
EW Petersdorf, C O'hUigin - Human immunology, 2019 - Elsevier
The MHC continues to have the most disease-associations compared to other regions of the
human genome, even in the genome-wide association study (GWAS) and single nucleotide …
human genome, even in the genome-wide association study (GWAS) and single nucleotide …
Global discovery of lupus genetic risk variant allelic enhancer activity
Genome-wide association studies of Systemic Lupus Erythematosus (SLE) nominate 3073
genetic variants at 91 risk loci. To systematically screen these variants for allelic …
genetic variants at 91 risk loci. To systematically screen these variants for allelic …
Clinicogenomic factors of biotherapy immunogenicity in autoimmune disease: A prospective multicohort study of the ABIRISK consortium
S Hässler, D Bachelet, J Duhaze, N Szely… - PLoS …, 2020 - journals.plos.org
Background Biopharmaceutical products (BPs) are widely used to treat autoimmune
diseases, but immunogenicity limits their efficacy for an important proportion of patients. Our …
diseases, but immunogenicity limits their efficacy for an important proportion of patients. Our …
Expression estimation and eQTL mapping for HLA genes with a personalized pipeline
The HLA (Human Leukocyte Antigens) genes are well-documented targets of balancing
selection, and variation at these loci is associated with many disease phenotypes. Variation …
selection, and variation at these loci is associated with many disease phenotypes. Variation …
Regulation of expression quantitative trait loci by SVA retrotransposons within the major histocompatibility complex
JK Kulski, AL Pfaff, LD Marney… - Experimental …, 2023 - journals.sagepub.com
Genomic and transcriptomic studies of expression quantitative trait loci (eQTL) revealed that
SINE-VNTR-Alu (SVA) retrotransposon insertion polymorphisms (RIPs) within human …
SINE-VNTR-Alu (SVA) retrotransposon insertion polymorphisms (RIPs) within human …
Gene expression variability in human and chimpanzee populations share common determinants
Inter-individual variation in gene expression has been shown to be heritable and is often
associated with differences in disease susceptibility between individuals. Many studies …
associated with differences in disease susceptibility between individuals. Many studies …
Regulation of HLA class I expression by non-coding gene variations
The Human Leukocyte Antigen (HLA) is a critical genetic system for different outcomes after
solid organ and hematopoietic cell transplantation. Its polymorphism is usually determined …
solid organ and hematopoietic cell transplantation. Its polymorphism is usually determined …
Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease
The MHC region is highly associated with autoimmune and infectious diseases. Here we
conduct an in-depth interrogation of associations between genetic variation, gene …
conduct an in-depth interrogation of associations between genetic variation, gene …
Nongenic cancer-risk SNPs affect oncogenes, tumour-suppressor genes, and immune function
Background Genome-wide association studies (GWASes) have identified many noncoding
germline single-nucleotide polymorphisms (SNPs) that are associated with an increased risk …
germline single-nucleotide polymorphisms (SNPs) that are associated with an increased risk …