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
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
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).