Friedrich, F. W., Bausero, P., Sun, Y., Treszl, A., Kramer, E., Juhr, D., Richard, P., Wegscheider, K., Schwartz, K., Brito, D., Arbustini, E., Waldenstrom, A., Isnard, R., Komajda, M., Eschenhagen, T., Carrier, L., for the EUROGENE Heart Failure Project
30 Jun 2009 | 5:00 pm
Aims Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in genes encoding sarcomeric proteins. Incomplete penetrance suggests the existence of modifier genes. Calmodulin (CaM) could be of importance given the key role of Ca2+ for cardiac contractile function and growth. Any variant that affects CaM expression and/or function may impact on FHC clinical expression. Methods and results We screened the promoter region of human calmodulin III gene (CALM3) and identified a new –34T>A polymorphism with a T-allele frequency of 0.70. The distribution of CALM3 genotypes differed…