Epidermal growth factor receptor gene polymorphisms, R497K, but not (CA)n repeat, is associated with dilated cardiomyopathy.
BACKGROUND
Epidermal growth factor receptor (EGFR) has been recently implicated in pathological tissue remodelling and sustained remodelling processes can lead to pathological outcomes, such as cardiac hypertrophy in heart failure. Dilated cardiomyopathy (DCM) is the most common form of heart muscle disease, comprising 60% of the cases of identified cardiomyopathy. This study aimed to evaluate the association between the EGFR gene polymorphisms and DCM in a Chinese population.


METHODS
Genomic DNA was extracted from whole blood samples in 163 DCM patients and 185 control subjects. EGFR R497K (Arg497Lys) and (CA)n polymorphisms were genotyped, and the difference of their allele and genotype frequencies distribution between DCM patients and controls were analyzed.


RESULTS
No significant difference was observed in the frequency distribution of genotype and allele in (CA)n repeat between DCM patients and control subjects. The frequency of Lys allele in DCM patients was significantly higher than that in controls (64.4% and 53.8%, in DCM patients and controls, respectively p = 0.005, OR = 1.556, 95% CI = 1.146-2.111). The frequency for Lys/Lys genotype was significantly overrepresented in DCM patients (p = 0.020, OR = 2.105, 95% CI = 1.134-3.905, for Lys/Lys vs. Arg/Arg).


CONCLUSIONS
This study suggests that the R497K polymorphism may be associated with DCM in a Chinese population.
Zhou
Bin
B
Laboratory of Molecular Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu 610041, PR China.
Rao
Li
L
Peng
Ying
Y
Zhang
Qiuping
Q
Zhang
Lin
L
D000483:Alleles; D015415:Biomarkers; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016022:Case-Control Studies; D018900:Dinucleotide Repeats; D005260:Female; D018773:Genes, erbB-1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
D015415:Biomarkers