HLA imputation and its application to genetic and molecular fine-mapping of the MHC region in autoimmune diseases

T Naito, Y Okada - Seminars in immunopathology, 2022 - Springer
Variations of human leukocyte antigen (HLA) genes in the major histocompatibility complex
region (MHC) significantly affect the risk of various diseases, especially autoimmune …

Inflammatory bowel disease: a comprehensive analysis of molecular bases, predictive biomarkers, diagnostic methods, and therapeutic options

E Diez-Martin, L Hernandez-Suarez… - International Journal of …, 2024 - mdpi.com
In inflammatory bowel diseases (IBDs), such as Crohn's disease (CD) and ulcerative colitis
(UC), the immune system relentlessly attacks intestinal cells, causing recurrent tissue …

Detailed stratified GWAS analysis for severe COVID-19 in four European populations

F Degenhardt, D Ellinghaus, S Juzenas… - Human molecular …, 2022 - academic.oup.com
Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a
deeper analysis of the host genetic contribution to severe COVID-19 is important to improve …

A novel unconventional T cell population enriched in Crohn's disease

E Rosati, GR Martini, MV Pogorelyy, AA Minervina… - Gut, 2022 - gut.bmj.com
Objective One of the current hypotheses to explain the proinflammatory immune response in
IBD is a dysregulated T cell reaction to yet unknown intestinal antigens. As such, it may be …

HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases

G Butler-Laporte, J Farjoun, T Nakanishi, T Lu… - Communications …, 2023 - nature.com
The human leukocyte antigen (HLA) region on chromosome 6 is strongly associated with
many immune-mediated and infection-related diseases. Due to its highly polymorphic nature …

[HTML][HTML] Pathological mechanism and targeted drugs of ulcerative colitis: A review

M Guo, X Wang - Medicine, 2023 - journals.lww.com
Ulcerative colitis (UC) is a chronic inflammatory disease of the colon with abdominal pain,
diarrhea, and mucopurulent stools as the main symptoms. Its incidence is increasing …

A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies

C Strippel, M Herrera-Rivero, M Wendorff, AK Tietz… - Brain, 2023 - academic.oup.com
Autoimmune neurological syndromes (AINS) with autoantibodies against the 65 kDa isoform
of the glutamic acid decarboxylase (GAD65) present with limbic encephalitis, including …

Variation within the non-coding genome influences genetic and epigenetic regulation of the human leukocyte antigen genes

T Arumugam, T Adimulam, A Gokul… - Frontiers in …, 2024 - frontiersin.org
Variation within the non-coding genome may influence the regulation and expression of
important genes involved in immune control such as the human leukocyte antigen (HLA) …

18th international HLA and immunogenetics workshop: report on the SNP‐HLA reference consortium (SHLARC) component

NSB Silva, S Bourguiba‐Hachemi, V Douillard… - 2024 - Wiley Online Library
The SNP‐HLA Reference Consortium (SHLARC), a component of the 18th International
HLA and Immunogenetics Workshop, is aimed at collecting diverse and extensive human …

Sex-dimorphic analyses identify novel and sex-specific genetic associations in inflammatory bowel disease

M Khrom, D Li, T Naito, HS Lee… - Inflammatory Bowel …, 2023 - academic.oup.com
Background Sex is an integral variable often overlooked in complex disease genetics.
Differences between sexes have been reported in natural history, disease complications …