Conclusion: The human BOP gene was analyzed for the first time in HCMP to investigate possible association.
Hypertrophic cardiomyopathy (HCMP) is an inherited heart disease, which impairs myocardial function and leads heart failure or sudden death.
QT dispersion (QTd) (14-17) have been used previously as noninvasive prognostic tools in the evaluation and risk stratification of HCMP patients.
Considering all data, human homologous of Bop gene (BOP) seems to be candidate modifier gene for HCMP in which both cardiac hypertrophy and cardiac contraction have central role.
In this study, we aimed to investigate whether there is a relationship between sequence variations in BOP gene and QTd as an noninvasive risk marker for HCMP
The study consisted of 50 patients (30 males, 20 females; mean age 47 [+ or -] 17 years; range 17 to 74 years) with clinically diagnosed HCMP All the patients were evaluated with a detailed history, physical examination, 12-lead electrocardiography and transthoracic echocardiography.
QT dispersion and corrected QT dispersion of HCMP patients with 707CC/710TT/761CC genotype of linked 707G>C, 710C>T, and 761T>C polymorphisms in exon 6 were found to be significantly lower (p=0.03 and p=0.032) than in the others genotypes (GG/CC/ TT and GC/CT/TC) (Table 4).
G275>A nucleotide substitution in exon 2 was found only in one HCMP patient (1/50) and C965>A nucleotide substitution in exon 7 was found in three HCMP patients (3/49) (Fig.
The main observation of this study was that sequence variations in human B0P/SMYD1 gene are related to QT dispersion and cQT dispersion in HCMP patients.
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.