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.
In conclusion, though we have not found any mutation in BOP gene, it seems like that human BOP gene plays role in HCMP as a modifier gene.
On the other hand, it's function in the cardiomyocyte development and in the heart contractility suggest that BOP gene might be a modifier gene for heart diseases like HCMP or arrhythmic heart diseases.
This diversity suggests the presence of modifier genes (1, 2).
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.
Mutations in these genes account for a small proportion of HSCR patients (7%) and have reduced penetrance and various effects on the length of the aganglionosis (1, 2), suggesting that modifier genes
influence the penetrance and severity of the phenotype (28, 29).
However, chemicals exert their adverse effects over dose and time, and there are modifier genes
in various species or strains that can affect the action of a chemical through metabolism or during some of the basic processes of injury and repair.
For example, research into individual susceptibility in mice to nickel-induced acute lethal lung injury revealed that response to this metallic constituent of particulate matter and cigarette smoke is controlled by a region on mouse chromosome 6 with modifier genes
suggested on chromosomes 1, 2, and possibly 9 and 16 (27,28).
The UNC-Chapel Hill Center for BioInformatics is also actively involved with the creation of a data warehouse to integrate clinical, demographic and genomics data in search of modifier genes
that influence the severity of the genetic disease Cystic Fibrosis in order to discover novel treatments and drug targets that will benefit the global community.