[HTML][HTML] The complement system and human autoimmune diseases

SL Coss, D Zhou, GT Chua, RA Aziz, RP Hoffman… - Journal of …, 2023 - Elsevier
Genetic deficiencies of early components of the classical complement activation pathway
(especially C1q, r, s, and C4) are the strongest monogenic causal factors for the prototypic …

The heterogeneous pathogenesis of type 1 diabetes mellitus

J Ilonen, J Lempainen, R Veijola - Nature Reviews Endocrinology, 2019 - nature.com
Type 1 diabetes mellitus (T1DM) results from the destruction of pancreatic β-cells that is
mediated by the immune system. Multiple genetic and environmental factors found in …

Single-cell multi-omics analysis of human pancreatic islets reveals novel cellular states in type 1 diabetes

M Fasolino, GW Schwartz, AR Patil, A Mongia… - Nature …, 2022 - nature.com
Abstract Type 1 diabetes (T1D) is an autoimmune disease in which immune cells destroy
insulin-producing beta cells. The aetiology of this complex disease is dependent on the …

Bayesian test for colocalisation between pairs of genetic association studies using summary statistics

C Giambartolomei, D Vukcevic, EE Schadt… - PLoS …, 2014 - journals.plos.org
Genetic association studies, in particular the genome-wide association study (GWAS)
design, have provided a wealth of novel insights into the aetiology of a wide range of human …

Mechanisms of diabetic complications

JM Forbes, ME Cooper - Physiological reviews, 2013 - journals.physiology.org
It is increasingly apparent that not only is a cure for the current worldwide diabetes epidemic
required, but also for its major complications, affecting both small and large blood vessels …

Integrating predicted transcriptome from multiple tissues improves association detection

AN Barbeira, M Pividori, J Zheng, HE Wheeler… - PLoS …, 2019 - journals.plos.org
Integration of genome-wide association studies (GWAS) and expression quantitative trait
loci (eQTL) studies is needed to improve our understanding of the biological mechanisms …

Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis

S Raychaudhuri, C Sandor, EA Stahl, J Freudenberg… - Nature …, 2012 - nature.com
The genetic association of the major histocompatibility complex (MHC) to rheumatoid
arthritis risk has commonly been attributed to alleles in HLA-DRB1. However, debate …

Variance component model to account for sample structure in genome-wide association studies

HM Kang, JH Sul, SK Service, NA Zaitlen, S Kong… - Nature …, 2010 - nature.com
Although genome-wide association studies (GWASs) have identified numerous loci
associated with complex traits, imprecise modeling of the genetic relatedness within study …

Type 1 diabetes: etiology, immunology, and therapeutic strategies

TL Van Belle, KT Coppieters… - Physiological …, 2011 - journals.physiology.org
Type 1 diabetes (T1D) is a chronic autoimmune disease in which destruction or damaging of
the beta-cells in the islets of Langerhans results in insulin deficiency and hyperglycemia. We …

Genetic insights into common pathways and complex relationships among immune-mediated diseases

M Parkes, A Cortes, DA Van Heel… - Nature Reviews Genetics, 2013 - nature.com
Shared aetiopathogenic factors among immune-mediated diseases have long been
suggested by their co-familiality and co-occurrence, and molecular support has been …