Genome-wide association studies for common diseases and complex traits

JN Hirschhorn, MJ Daly - Nature reviews genetics, 2005 - nature.com
Genetic factors strongly affect susceptibility to common diseases and also influence disease-
related quantitative traits. Identifying the relevant genes has been difficult, in part because …

Association study designs for complex diseases

LR Cardon, JI Bell - Nature Reviews Genetics, 2001 - nature.com
Assessing the association between DNA variants and disease has been used widely to
identify regions of the genome and candidate genes that contribute to disease. However …

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

JP Hugot, M Chamaillard, H Zouali, S Lesage… - Nature, 2001 - nature.com
Crohn's disease, and ulcerative colitis, the two main types of chronic inflammatory bowel
disease, are multifactorial conditions of unknown aetiology. A susceptibility locus for Crohn's …

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

Y Ogura, DK Bonen, N Inohara, DL Nicolae, FF Chen… - Nature, 2001 - nature.com
Crohn's disease is a chronic inflammatory disorder of the gastrointestinal tract, which is
thought to result from the effect of environmental factors in a genetically predisposed host. A …

Common genetic variants on 5p14. 1 associate with autism spectrum disorders

K Wang, H Zhang, D Ma, M Bucan, JT Glessner… - Nature, 2009 - nature.com
Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and
neuropsychiatric disorders characterized by deficits in verbal communication, impairment of …

Multifactor dimensionality reduction software for detecting gene–gene and gene–environment interactions

LW Hahn, MD Ritchie, JH Moore - Bioinformatics, 2003 - academic.oup.com
Motivation: Polymorphisms in human genes are being described in remarkable numbers.
Determining which polymorphisms and which environmental factors are associated with …

Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene

RP Nair, PE Stuart, I Nistor, R Hiremagalore… - The American Journal of …, 2006 - cell.com
Previous studies have narrowed the interval containing PSORS1, the psoriasis-susceptibility
locus in the major histocompatibility complex (MHC), to an∼ 300-kb region containing HLA …

A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans

L Prokunina, C Castillejo-López, F Öberg… - Nature …, 2002 - nature.com
Systemic lupus erythematosus (SLE, OMIM 152700) is a complex autoimmune disease that
affects 0.05% of the Western population, predominantly women 1, 2, 3, 4. A number of …

A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci

Y Liu, C Helms, W Liao, LC Zaba, S Duan… - PLoS …, 2008 - journals.plos.org
A genome-wide association study was performed to identify genetic factors involved in
susceptibility to psoriasis (PS) and psoriatic arthritis (PSA), inflammatory diseases of the skin …

NALP1 in Vitiligo-Associated Multiple Autoimmune Disease

Y Jin, CM Mailloux, K Gowan, SL Riccardi… - … England Journal of …, 2007 - Mass Medical Soc
Background Autoimmune and autoinflammatory diseases involve interactions between
genetic risk factors and environmental triggers. We searched for a gene on chromosome …