Abstract： Objective To determine the effect of cMYBPC on the clinical phenotype of hypertrophic cardiomyopathy. Methods 226 patients with hypertrophic cardiomyopathy and 226 age- and sex-matched controls were recruited according to the diagnostic criteria of WHO. Genotyping was completed using PCR, restrictive enzyme digestion, and sequencing. Results Among three polymorphisms of MYBPC3 studied, only the GG genotype at 18443 in exon 30 was associated with the thicker left ventricular wall (25.2±5.9) mm in patient group, unlike the AA and AG genotypes (18.9±4.98) mm. After multiple regression analysis for adjustment of age and sex, the association remained. No difference was found in the genotype distribution between control and patients. Conclusions GG genotype of MYBPC3 might be a genetic risk factor for the expression of cardiac hypertrophic phenotype in patients with hypertrophic cardiomyopathy.
王 萍，惠汝太. 心脏型肌球蛋白结合蛋白C基因18443 A/G多态与肥厚型心肌病表型关系[J]. 武警医学, 2012, 23(5): 421-423.
WANG Ping, and HUI Rutai. MYBPC3 polymorphism modifies the expression of cardiachypertrophy in patients with hypertrophic cardiomyopathy. Med. J. Chin. Peop. Armed Poli. Forc., 2012, 23(5): 421-423.
