A human disease modifier gene is a modifier gene[1][2] that alters expression of a human gene at another locus that in turn causes a genetic disease. Whereas medical genetics has tended to distinguish between monogenic traits, governed by simple, Mendelian inheritance, and quantitative traits, with cumulative, multifactorial causes, increasing evidence suggests that human diseases exist on a continuous spectrum between the two.[3]
In the context of human disease, the terms 'modifier gene' and 'oligogene' have similar meanings, and characterization of a particular locus depends on characterization of the phenotype (effects) that it causes or modifies. The term 'modifier gene' may be taken to mean a gene in which genetic variation modifies the effects of mutation at a major locus, but has no effect on the normal condition, a condition not necessarily met for oligogenic interactions.[1] The study of diseases that arise from interactions amongst genes is important for understanding the genetic basis of disease. For these purposes, the study of both modifier genes and oligogenes are useful.
^ abGénin E, Feingold J, Clerget-Darpoux F (2008). "Identifying modifier genes of monogenic disease: strategies and difficulties". Human Genetics. 124 (4): 357–68. doi:10.1007/s00439-008-0560-2. PMC 2911473. PMID 18784943.
^Hall J, Horton W (1997). "Modifier Gene". Genetics Glossary. Growth, Genetics and Hormones. Archived from the original on 2019-05-31. Retrieved 2016-05-23.
^Badano JL, Katsanis N (2002). "Beyond Mendel: an evolving view of human genetic disease transmission". Nature Reviews. Genetics. 3 (10): 779–89. doi:10.1038/nrg910. PMID 12360236. S2CID 4714288.
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for phase 3 clinical trials. Other modifiers of other well-understood steps in the pathogenesis of coeliac disease, such as the action of HLA-DQ2 or tissue...
effect of a gene mutation is dependent on the presence or absence of mutations in one or more other genes, respectively termed modifiergenes. In other...
muscles. Another gene, SMN2, is considered a disease modifying gene, since usually the more the SMN2 copies, the milder is the disease course. The diagnosis...
For instance, in single gene disorders there is one gene primarily responsible for development of the disease, but modifiergenes inherited separately can...
quantitative resistance (discussed below) refers to plant disease resistance that is controlled by multiple genes and multiple molecular mechanisms that each have...
another gene, called a modifier. An example of such a case is the gene TGFB1 which modified a person's risk of developing Alzheimer's disease if they...
gene number prediction represents a lower bound on the total number of human protein-coding genes. The following is a partial list of genes on human chromosome...
proposed as a way to control mosquitos, a vector for many deadly diseases. Although humangene therapy is still relatively new, it has been used to treat genetic...
by its genetic heterogeneity and modifiergenes. It is also the most common of the inherited cystic kidney diseases — a group of disorders with related...
(Zhu-Tokita-Takenouchi-Kim syndrome) is a rare multisystem disease caused in humans by a genetic mutation of the SON gene. Common symptoms include developmental delay...
collection of autoimmune diseases in which the human immune system becomes hyperactive and attacks healthy tissues. Symptoms of these diseases can affect many...
inflammatory disorder.: 149 FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid protein called...
treatment efficacy, or other genetic modifiers. PASLI disease is caused by gain-of-function mutations in the gene PIK3CD, which stands for phosphatidylinositol...
945–947. doi:10.1080/000164801317166835. PMID 11813900. "WHO | Genes and humandisease". Who.int. 7 December 2010. Archived from the original on 20 October...
(hydrophobia) is a fatal viral disease that can affect any mammal, although the close relationship of dogs with humans makes canine rabies a zoonotic...
and further characterized throughout the late 1970s and 1980s. Four genes in the human genome code for ubiquitin: UBB, UBC, UBA52 and RPS27A. The addition...
Interferon-stimulated gene 15 (ISG15) is a 17 kDA secreted protein that in humans is encoded by the ISG15 gene. ISG15 is induced by type I interferon (IFN)...
is estimated that the human gut microbiota have around a hundred times as many genes as there are in the human genome. In humans, the gut microbiota has...
inhibitor-type biological disease-modifying anti-rheumatic drug (DMARD). Biologics (also called biological response modifiers) are a class of therapeutics...
medication approved to treat this disease. Risdiplam is a survival of motor neuron 2-directed RNA splicing modifier. In clinical trials, the most common...
Louros N, Erkol E, Vlaeminck I, et al. (December 2023). "LRRC37B is a humanmodifier of voltage-gated sodium channels and axon excitability in cortical neurons"...
disease onset; there were notable efforts in this search. Currently, CAG repeat length is considered the biggest onset age modifier for TNR diseases....
pancreatitis related to CFTR: complex inheritance and identification of a modifiergene". Journal of Investigative Medicine. 50 (5): 247S–255S. doi:10.1136/jim-50-suppl5-01...
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