In this study, we first showed that human BOP gene might be
modifier gene for HCMP The linked rare allele of three SNPs at exon 6 of human BOP gene had significantly relationship with QT dispersion values of HCMP patients.
Single major partially dominant genes explain the segregation of resistance to common bunt race T19 in L8474D1 and SC8021V2 when crossed with HY377, with the possibility of at least one
modifier gene in SC8021V2.
It is anticipated the AE phenotype could be dependent on either
modifier genes or an unknown putative AE gene.
But only 18% of the patients with ARS responded to medical or surgical (used solely or in combination) treatment, this may be due to surgical complications such as early fibrosis and the presence of
modifier genes [27].
The clinical variability observed in HCM disease, could be influenced by several factors, such as
modifier genes, epigenetic factors, microRNAs, posttranslation protein modifications and environmental factors (1, 24, 25).
This phenomenon has been termed "reduced penetrance." Reduced penetrance is probably the result of
modifier genes that are present elsewhere in the genome, and which can now be more easily identified because of the HGP and ENCODE; in turn, these
modifier genes can be used to increase predictive precision in the form of modifier gene-complemented monogenic diagnostic tests.
To explain the phenotypic variability within the presented family, it can be speculated that additional polymorphisms or
modifier genes influenced the variable phenotype.
Sutcliffe's gene hunt offered up good matches, candidates, for each of the three disease
modifier genes discovered by the Case Western scientists, and one of these candidates-the mouse gene corresponding to a gene known to predispose humans carrying particular variations of it to develop early-onset Alzheimer's disease-was of special interest to his team.
Through the research, the scientists will also be able to identify potential
modifier genes and examine their relationship to cardiac structure and function in athletes of differing ethnicities and diseased individuals.
Background-specific
modifier genes may be responsible for this.
The authors concluded that MyD88-dependent signaling controls the expression of several key
modifier genes of intestinal tumorigenesis and has a critical role in spontaneous and carcinogen-induced tumor development.
Even in the so-called "single gene" disorders (e.g., cystic fibrosis), where we previously thought pathways were relatively straightforward, there are often complicating factors, such as
modifier genes. To help define
modifier genes, it is important to precisely define clinical phenotypes (3).