Multiple sclerosis genetics

S Sawcer, RJM Franklin, M Ban - The Lancet Neurology, 2014 - thelancet.com
Genome-wide association studies have revolutionised the genetic analysis of multiple
sclerosis. Through international collaborative efforts involving tens of thousands of cases …

Genome-wide association studies: findings at the major histocompatibility complex locus in psychosis

A Corvin, DW Morris - Biological psychiatry, 2014 - Elsevier
The major histocompatibility complex (MHC) is one of the most intensively investigated,
genetically diverse regions of the genome. In its extended form, it encodes more than 400 …

Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications

A Rimmer, H Phan, I Mathieson, Z Iqbal, SRF Twigg… - Nature …, 2014 - nature.com
High-throughput DNA sequencing technology has transformed genetic research and is
starting to make an impact on clinical practice. However, analyzing high-throughput …

[HTML][HTML] HIBAG—HLA genotype imputation with attribute bagging

X Zheng, J Shen, C Cox, JC Wakefield… - The …, 2014 - nature.com
Genotyping of classical human leukocyte antigen (HLA) alleles is an essential tool in the
analysis of diseases and adverse drug reactions with associations mapping to the major …

[HTML][HTML] Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes

Y Okada, B Han, LC Tsoi, PE Stuart… - The American Journal of …, 2014 - cell.com
Psoriasis vulgaris (PsV) risk is strongly associated with variation within the major
histocompatibility complex (MHC) region, but its genetic architecture has yet to be fully …

[HTML][HTML] Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis

MD Mayes, L Bossini-Castillo, O Gorlova… - The American Journal of …, 2014 - cell.com
In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with
the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human …

[HTML][HTML] Genome-wide associations between genetic and epigenetic variation influence mRNA expression and insulin secretion in human pancreatic islets

AH Olsson, P Volkov, K Bacos, T Dayeh, E Hall… - PLoS …, 2014 - journals.plos.org
Genetic and epigenetic mechanisms may interact and together affect biological processes
and disease development. However, most previous studies have investigated genetic and …

[HTML][HTML] HLA Diversity in the 1000 Genomes Dataset

PA Gourraud, P Khankhanian, N Cereb, SY Yang… - PloS one, 2014 - journals.plos.org
The 1000 Genomes Project aims to provide a deep characterization of human genome
sequence variation by sequencing at a level that should allow the genome-wide detection of …

[HTML][HTML] Multiple sclerosis-associated IL2RA polymorphism controls GM-CSF production in human TH cells

FJ Hartmann, M Khademi, J Aram, S Ammann… - Nature …, 2014 - nature.com
Genome-wide association studies implicate dysregulation of immune mechanisms in the
pathogenesis of multiple sclerosis (MS). Particularly, polymorphisms in genes involved in T …

Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations

Y Okada, K Kim, B Han, NE Pillai… - Human molecular …, 2014 - academic.oup.com
Previous studies have emphasized ethnically heterogeneous human leukocyte antigen
(HLA) classical allele associations to rheumatoid arthritis (RA) risk. We fine-mapped RA risk …