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Saba R, Booth SA (2013). "The genetics of susceptibility to variant Creutzfeldt-Jakob disease". Public Health Genomics. 16 (1-2 ... Variant Creutzfeldt-Jakob disease (vCJD), commonly referred to as "mad cow disease" or "human mad cow disease" to distinguish ... "Variant Creutzfeldt-Jakob Disease (VCJD) , Prion Diseases". U.S. Centers for Disease Control and Prevention (CDC). 25 January ... Sikorska, B; Liberski, PP (2012). Human prion diseases: from Kuru to variant Creutzfeldt-Jakob disease. Subcellular ...
Pritchard JK (2001). "Are rare variants responsible for susceptibility to complex diseases?". Am J Hum Genet. 69 (1): 124-137. ... Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model. Another ... The number of variants contributing to a disease and the interactions among those variants also could influence the ... Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere ...
"IL18 Gene Variants Influence the Susceptibility to Chagas Disease". PLOS Neglected Tropical Diseases. 10 (3): e0004583. doi: ... Examples of non-infectious granulomatous diseases are sarcoidosis, Crohn's disease, berylliosis, giant-cell arteritis, ... Aberrant IFN-γ expression is associated with a number of autoinflammatory and autoimmune diseases. The importance of IFN-γ in ... Interferon-γ 1b is approved by the U.S. Food and Drug Administration to treat chronic granulomatous disease (CGD) and ...
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Variants at IL18RAP have been linked to susceptibility to Coeliac disease. Interleukin-18 receptor GRCh38: Ensembl release 89: ... 2002). "Interleukin 18 and associated markers of T helper cell type 1 activity in coeliac disease". Gut. 50 (2): 186-90. doi: ... 2008). "Identification of IL-18RAP mRNA truncated splice variants in human testis and the other human tissues". Cytokine. 39 (3 ... "Novel celiac disease genetic determinants related to the immune response". Nat. Genet. 40 (4): 395-402. doi:10.1038/ng.102. PMC ...
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411:599-603. PMID ... found a susceptibility locus for Crohn disease, a granulomatous inflammation of the bowel, on chromosome 16 close to the locus ... from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. RMD Open 2015; 1: e000097. PMID ... Based on the above information Blau suggested in 1998 that the genetic defect in Blau syndrome and Crohn Disease might be the ...
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Buschman E, Skamene E (2004). "Linkage of leprosy susceptibility to Parkinson's disease genes". International Journal of ... Multiple transcript variants encoding different isoforms have been found for this gene. GRCh38: Ensembl release 89: ... 2004). "Susceptibility to leprosy is associated with PARK2 and PACRG". Nature. 427 (6975): 636-40. Bibcode:2004Natur.427..636M ... Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex ...
"Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease". The Lancet. 353 ( ... However, evidence has been presented that suggests no harmful effect of these variants with regard to mengingococcal disease. ... "Genetic susceptibility to invasive meningococcal disease: MBL2 structural polymorphisms revisited in a large case-control study ... "Age-Dependent Association of Human Mannose-Binding Lectin Mutations with Susceptibility to Invasive Meningococcal Disease in ...
"Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease". Clinical ... "IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease". Gastroenterology. 132 (5): ... "Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype". Inflammatory Bowel ... Three variants in the IL23R gene have been shown to protect against Crohn's disease and ulcerative colitis. The effect of IL- ...
"Electrophoresis and phage susceptibility studies on a filament-producing variant of the E. coli bacterium". Biochimica et ... These pili then served as binding sites for the lysogenic bacteriophage that carries the disease-causing toxin. The gene for ... Their presence greatly enhances the bacteria's ability to attach to the host and cause disease. Nonpathogenic strains of V. ... Caugant DA, Maiden MC (2009). "Meningococcal carriage and disease--population biology and evolution". Vaccine. 27 Suppl 2 (4): ...
... is associated with susceptibility to lumbar disc disease". Nature Genetics. 37 (6): 607-12. doi:10.1038/ng1557. PMID 15864306. ... The gene variant was hypothesized to disrupt normal building and maintenance of cartilage. However, this association was not ... is associated with susceptibility to lumbar disc disease". Nature Genetics. 37 (6): 607-612. doi:10.1038/ng1557. PMID 15864306 ... Lumbar disc disease is the drying out of the spongy interior matrix of an intervertebral disc in the spine. Many physicians and ...
... and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease". Human Immunology. 70 (11): 946-9. doi: ... November 2010). "NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients". ... July 2010). "Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with ... "Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients". Inflammatory Bowel Diseases. 16 (6): ...
"Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling". Gut. 58 (8): 1078-83. doi: ... "Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and ... Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple ... "Shared and distinct genetic variants in type 1 diabetes and celiac disease". N. Engl. J. Med. 359 (26): 2767-77. doi:10.1056/ ...
A variant TM6SF2 gene causes susceptibility to nonalcoholic fatty liver disease due to impaired very low density lipoprotein ( ... "Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease". ...
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nature ... "A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn's disease in ATG16L1". " ... and population genetics whereas his main disease focus has been inflammatory bowel diseases, including Crohn's disease and ... He also contributed to a study that aimed to identify genetic variants for gallstone disease. Through transcript mapping, ...
... association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease". Nature ... The Pediatric Infectious Disease Journal. 26 (5): 416-422. doi:10.1097/01.inf.0000260253.22994.61. ISSN 0891-3668. PMC 2810843 ... and compare them to a comprehensive library of the gene signatures of particular diseases. Carrol is the Knowledge Exchange ... "High Pneumococcal DNA Loads Are Associated With Mortality in Malawian Children With Invasive Pneumococcal Disease". ...
"Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population". ... Wang M, Ye Y, Qian H, Song Z, Jia X, Zhang Z, Zhou J, Ni C (2010). "Common genetic variants in pre-microRNAs are associated ... Liu Z, Li G, Wei S, Niu J, El-Naggar AK, Sturgis EM, Wei Q (2010). "Genetic variants in selected pre-microRNA genes and the ...
... of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease". ... is more frequent in people with the disease, the variant is said to be associated with the disease. The associated SNPs are ... GWA studies identify SNPs and other variants in DNA associated with a disease, but they cannot on their own specify which genes ... These participants may be people with a disease (cases) and similar people without the disease (controls), or they may be ...
February 2007). "A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ... February 2007). "A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ... "Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease". Gut. 56 ... "Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease ...
"Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants". ... The RASD1 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease. The RASD1 gene resides ... of common variants demonstrated a substantial overlap in the genetic risk of ischemic stroke and coronary artery disease, such ... coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention ...
According to the CD-CV hypothesis, some of those variants lead to susceptibility to complex polygenic diseases. Each variant at ... in the search for common variants that influence susceptibility to common diseases. Research has linked common SNPs to diseases ... or variants, will be found in all human populations which manifest a given disease. Common variants (not necessarily disease- ... The common disease-common variant (often abbreviated CD-CV) hypothesis predicts that common disease-causing alleles, ...
"Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus". ... Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in ... "Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus". Nat. Genet. 40 (2): 211-6. doi: ... "Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus". Nat. Genet. 40 (2): 211-6. doi: ...
... a lot in the aspects of preventative medicines because it allows us to associate gene variants with susceptibility to disease. ... Many diabetic studies have tried to deduce as to what and how many genes are involved in susceptibility to disease in Japanese ... The more resounding knowledge on the effect of smoking and the link to disease susceptibility has most likely driven this ... Most importantly, how these gene variants interact with environmental factors could tell us lot about how a disease develops in ...
Genetic variants and polymorphisms associated with the SIAE gene have been implicated in susceptibility to Autoimmune Disease 6 ... "OMIM Entry - # 613551 - AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6". Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, ... Individuals harboring rare heterozygous loss-of-function variants or homozygous defective polymorphic variants commonly ... Rare variants for SIAE have also been implicated in autoimmune Addison's disease, but their pathogenic roles are inconclusive. ...
The different structural variant alleles of the same gene were shown to have different phenotypes and susceptibility to disease ... discovered structural variants are thought to play a very significant role in phenotypic diversity and disease susceptibility. ... These studies lead to discoveries associating genetic variants to certain phenotypes as well as their implications in disease. ... These effects can have significant implications in susceptibility to disease. The first gene dosage effect that was observed, ...
"Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian ...
March 2008). "Interferon gamma allelic variants: sex-biased multiple sclerosis susceptibility and gene expression". Archives of ... Furthermore, CD26+ CD4+ T cells produce IL-26 in a model of graft-versus-host disease (GvHD). CD4+ T cells polarized toward a ... The expression of IL-26 is elevated in the inflamed colonic mucosa of patients with Crohn's disease and it was reported that IL ... April 2009). "Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway ...
... meaning that there are several genes that control susceptibility to the disease. SLE is regarded as a prototype disease due to ... Other genes which contain risk variants for SLE are IRF5, PTPN22, STAT4, CDKN1A, Integrin alpha M, Tyrosine-protein kinase BLK ... Some of the susceptibility genes may be population specific. Genetic studies of the rates of disease in families supports the ... Rates of disease in the developing world are unclear. Lupus is Latin for "wolf": the disease was so-named in the 13th century ...