Table 3.
Distribution of HCP1 genetic variants in HEIRS Study participants
| nm_080669.2 (HCP1 mRNA) | Racial/ethnic groups | |||||||
|---|---|---|---|---|---|---|---|---|
| Position and variation (Codon Frame) | Asian | African American | Hispanic | White | ||||
| High N=73* |
Random N=75 |
High N=75 |
Random N=75 |
High N=75 |
Random N=75 |
High N=75 |
Random N=75 |
|
| c.85 G>A (GTC > ATC) (p.V29I) | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 |
| c.189 G>C (AGG > AGC) (p.R63S) | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| c.228+17 G>A (IVS1+17) | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| c.228+76 G>A (IVS1+76) | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
| c.756 C>G (GTC > GTG) (p.V252V) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| c.883 A>G (ACA > GCA) (p.T295A) | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
| C282Y homozygotes from the study population | ||||||||
| With highest TS/SF | With lowest TS/SF | Random selected homozygotes | ||||||
| N=75 | N=75 | N=75 | ||||||
| c.294 C>A (CTC > CTA) (p.L98L) | 0 | 1 | 0 | |||||
| c.1366 C>T (CCC > TCC) (p.P456S) | 0 | 0 | 2 | |||||
*
Two samples had insufficient or poor quality DNA and could not be PCR amplified.