MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy.
Clinical phenotype of hypertrophic cardiomyopathy exhibits significant inter- and intra-familial heterogeneities. To test if MYBPC3 polymorphism could modify the expression of cardiac hypertrophy, 226 patients with hypertrophic cardiomyopathy and 226 age- and sex-matched controls were recruited according to the diagnostic criteria of WHO. Genotyping was completed by using PCR, restrictive enzyme digestion, and sequencing. Three polymorphisms of MYBPC3 were studied, only the GG genotype at 18443 in exon 30 associated with thicker left ventricular wall (25.2+/-5.9 mm) in patient group, not the AA and AG genotypes (19.0+/-5.0mm, P<0.001). 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. Our results point out that GG genotype of MYBPC3 might be a genetic risk factor for the expression of cardiac hypertrophic phenotype in the patients with hypertrophic cardiomyopathy.
Wang
Ping
P
Sino-German Laboratory for Molecular Medicine, Department of Cardiology, FuWai Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Zou
Yubao
Y
Fu
Chunyan
C
Zhou
Xianliang
X
Hui
Rutai
R
D024741:Cardiomyopathy, Hypertrophic, Familial / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics*; D015984:Causality; D002681:China / Q000453:epidemiology; D015897:Comorbidity; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D015995:Prevalence; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D012720:Severity of Illness Index; D016037:Single-Blind Method; D014463:Ultrasonography; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics / Q000378:metabolism*; D000099163:Myosin Binding Protein C
D002352:Carrier Proteins; D000099163:Myosin Binding Protein C