Update on the genetic architecture of rheumatoid arthritis

K Kim, SY Bang, HS Lee, SC Bae - Nature Reviews Rheumatology, 2017 - nature.com
Human genetic studies into rheumatoid arthritis (RA) have uncovered more than 100 genetic
loci associated with susceptibility to RA and have refined the RA-association model for HLA …

Genetics of primary sclerosing cholangitis and pathophysiological implications

X Jiang, TH Karlsen - Nature reviews Gastroenterology & hepatology, 2017 - nature.com
Primary sclerosing cholangitis (PSC) is a chronic disease leading to fibrotic scarring of the
intrahepatic and extrahepatic bile ducts, causing considerable morbidity and mortality via …

Distinguishing functional polymorphism from random variation in the sequences of >10,000 HLA-A, -B and -C alleles

J Robinson, LA Guethlein, N Cereb, SY Yang… - PLoS …, 2017 - journals.plos.org
HLA class I glycoproteins contain the functional sites that bind peptide antigens and engage
lymphocyte receptors. Recently, clinical application of sequence-based HLA typing has …

HLA-DRB1 the notorious gene in the mosaic of autoimmunity

MT Arango, C Perricone, S Kivity, E Cipriano… - Immunologic …, 2017 - Springer
The major histocompatibility complex system is the most polymorphic gene cluster of the
mammal genome. In humans, this is a genomic locus known as the human leukocyte …

What has GWAS done for HLA and disease associations?

AE Kennedy, U Ozbek, MT Dorak - International journal of …, 2017 - Wiley Online Library
The major histocompatibility complex (MHC) is located in chromosome 6p21 and contains
crucial regulators of immune response, including human leucocyte antigen (HLA) genes …

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants

JH Karnes, L Bastarache, CM Shaffer… - Science Translational …, 2017 - science.org
Although many phenotypes have been associated with variants in human leukocyte antigen
(HLA) genes, the full phenotypic impact of HLA variants across all diseases is unknown. We …

Sequences of 95 human MHC haplotypes reveal extreme coding variation in genes other than highly polymorphic HLA class I and II

PJ Norman, SJ Norberg, LA Guethlein… - Genome …, 2017 - genome.cshlp.org
The most polymorphic part of the human genome, the MHC, encodes over 160 proteins of
diverse function. Half of them, including the HLA class I and II genes, are directly involved in …

HLA-DP in unrelated hematopoietic cell transplantation revisited: challenges and opportunities

K Fleischhauer, BE Shaw - Blood, The Journal of the American …, 2017 - ashpublications.org
When considering HLA-matched hematopoietic cell transplantation (HCT), sibling and
unrelated donors (UDs) are biologically different because UD-HCT is typically performed …

HLA-DRB1* 15: 01 and HLA-DRB3* 02: 02 in PLA2R-related membranous nephropathy

WB Le, JS Shi, T Zhang, L Liu, HZ Qin… - Journal of the …, 2017 - journals.lww.com
Idiopathic membranous nephropathy (MN) is associated with HLA; however, the HLA allele
involved remains unknown. To identify the HLA risk alleles associated with phospholipase …

The genetics of multiple sclerosis

A Didonna, JR Oksenberg - Exon Publications, 2017 - exonpublications.com
Multiple sclerosis (MS) is an autoimmune disease of the central nervous system,
characterized by focal inflammation, demyelination, and axonal injury. The etiology of MS is …