Epidermal growth factor receptor gene polymorphisms, R497K, but not (CA)n repeat, is associated with dilated cardiomyopathy.

作者: Bin zhou , Li Rao , Ying Peng , Qiuping Zhang , Lin Zhang

DOI: 10.1016/J.CCA.2009.02.014

关键词: Genotype frequencyCase-control studyDilated cardiomyopathyGenotypeBiologyInternal medicineAlleleEndocrinologyCardiomyopathyHeart failureEpidermal growth factorMolecular biology

摘要: Background Epidermal growth factor receptor (EGFR) has been recently implicated in pathological tissue remodelling and sustained processes can lead to outcomes, such as cardiac hypertrophy heart failure. Dilated cardiomyopathy (DCM) is the most common form of muscle disease, comprising 60% cases identified cardiomyopathy. This study aimed evaluate association between EGFR gene polymorphisms DCM a Chinese population. Methods Genomic DNA was extracted from whole blood samples 163 patients 185 control subjects. R497K (Arg497Lys) (CA)n were genotyped, difference their allele genotype frequencies distribution controls analyzed. Results No significant observed frequency repeat The Lys significantly higher than that (64.4% 53.8%, controls, respectively p = 0.005, OR 1.556, 95% CI 1.146-2.111). for Lys/Lys overrepresented (p 0.020, 2.105, 1.134-3.905, vs. Arg/Arg). Conclusion suggests polymorphism may be associated with

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