In this study, we have demonstrated that electrocardiographic presentation of HCMP is influenced by the allelic variants of the B0P/SMYD1 gene.
Since HCMP is mostly hereditary disease, it is important to give medical and genetic advice to other members of the patient's family.
Although HCMP is a genetic disease, the exact molecular mechanism of the hypertrophy is not known.
Defective development of right ventricle and excessive development of the left ventricle in the absence of Bop gene expression in mice, might support the idea that human BOP gene might play role in HCMP pathogenesis (1, 2).
In our result, the known substitutions in exon 6 and exon 9 were significantly different between HCMP patients and controls.
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.
Therefore, the factors, which change QT dispersion might effect clinical presentation of the disease like HCMP and arrhythmic heart diseases.
13) showed that the production of the atrial natriuretic factor (ANF) which was the most important feature of HCMP increased when the expression of the BOP in HCMP patients increased.
As this haplotype block shows a statistically significant relationship with HCMP it could be claimed that one of those substitutions or other undefined substitution within this haplotype block might affect gene function.
To elucidate the possible modifier role of BOP gene in the HCMP we analyzed all coding regions of the human Bop gene at 50 HCMP patient and 60 control.
Study group: As the diagnosis of HCMP requires advanced cardiological techniques and exclusion of other possible causes of cardiac hypertrophy, patient number of recent study was limited.
Modifier role of BOP gene in the HCMP will be confirmed by future studies with higher number of patients.