Table 3.
Genes that are candidate modifiers for hypertrophic cardiomyopathy (HCM)
| Gene | Symbol | Locus | Polymorphism | Results |
|---|---|---|---|---|
| Angiotensin-1 converting enzyme-1 | ACE | 17q23 | I/D | DD is associated with higher risk of SCD [73] |
| DD is associated with severity of hypertrophy [74,81] | ||||
| DD is more common in HCM patients [82,83] | ||||
| Frequency of DD genotype unchanged [84] | ||||
| No association with indices of hypertrophy [84,85] | ||||
| Angiotensinogen | AGT | 1q42 | −6G/A | No association with indices of hypertrophy [75,84] |
| T174M | 235T allele more common in HCM [70] | |||
| M235T | Frequency of T174M and M235T unchanged [84] | |||
| Angiotensin II receptor 1 | AGTR1 | 3q21–q25 | 1166A/C | No association with indices of hypertrophy [75] |
| C allele is associated with severity of hypertrophy [85] | ||||
| Chymase | CMA1 | 14q11.1 | 1625A/G | No changes in frequency in HCM [82] |
| Bradykinin B2 receptor | BDKRB2 | 14q32.1– q32.2 | −412C/G T21M | T21M was found in HCM cases but not in controls [71] |
| Aldosterone synthase | CYP11B2 | 8q21–q22 | −344T/C | No association with indices of hypertrophy [76] |
| Endothelin-1 | EDN1 | 6p24.1 | 8002G/A | A allele is associated with severity of hypertrophy [75] |
| Tumor necrosis factor α | TNF | 6p21.3 | −308G/A | A allele is associated with severity of hypertrophy [76] |
| Insulin-like growth factor 2 | IGF2 | 11p15.5 | 820G/A | No association with indices of hypertrophy [76] |
| Transforming growth factor β1 | TGFB1 | 19p13.2 | −509C/T | No association with indices of hypertrophy [76] |
| Interleukin 6 | IL6 | 7p21 | −174G/C | No association with indices of hypertrophy [76] |
| Platelet activating factor acetylhydrolase | PLA2G7 | 6p21.2-p12 | 994G/T (V279T) | T allele is more common in HCM and is associated with increased left ventricular dimension and decreased function [72] |