Table 4.
Comparison between the bone densities (Z score) of patients before start of ERT (Z pre-ERT), at the moment of evaluation (Z under ERT), and the Z score increase under ERT (delta Z), depending on the analyzed gene variants of the osteoprotegerin, estrogen receptor 1, calcitonin receptor, and vitamin D receptor genes
| TNFRSF11B (OPG) (c.9C>G; rs2073618) | ||||||
|---|---|---|---|---|---|---|
| GG (n=17) | GC (n=19) | CC (n=14) | P(GG,GC) | P(GG,CC) | P(GC,CC) | |
| Z pre-ERT | −1.8 (−2.2; −0.73) | −1.9 (−2.48; −0.59) | −2.69 (−3.09; −2.29) | 0.98 | 0.32 | 0.35 |
| Z under ERT | −0.1 (−0.95; 0.03) | −0.8 (−1.1; 0.1) | −0.3 (−0,4; 0.3) | 0.88 | 0.99 | 0.18 |
| Delta Z | 1.11 (1.95; 2.70) | 1.10 (0.6; 1.7) | 2.89 (2.54; 3.04) | 0.991 | 0.093 | 0.003* |
| ESR1 (c.453–351A>G; rs 9340799) | ||||||
| AA (n=9) | AG (n=38) | GG (n=3) | P(AA,AG) | P(AA,GG) | P(AG,GG) | |
| Z pre-ERT | −2.10 (−2.65; −1.75) | −1.86 (−2.57; −0.85) | −3.28 (−3.56; −2.99) | 0.88 | 0.30 | 0.17 |
| Z under ERT | 0.0 (−1.00; 0.05) | −0.75 (−1.10; 0.12) | −0.40 (−0.45; −0.35) | 0.98 | 0.6 | 0.38 |
| Delta Z | 1.70 (0.74; 2.00) | 1.18 (0.76; 1.78) | 2.88 (2.54; 3.21) | 0.95 | 0.31 | 0.15 |
| ESR1 (c.453–397T>C; rs 2234693) | ||||||
| CC (n=13) | CT (n=25) | TT (n=12) | P(CC,CT) | P(CC,TT) | P(CT,TT) | |
| Z pre-ERT | −1.81 (−2.62; −0.27) | −2.08 (−2.57; −1.59) | −1.40 (−2.71; −0.28) | 0.90 | 1.00 | 0.81 |
| Z under ERT | −0.10 (−0.95; 0.25) | −0.65 (−1.02; 0.18) | −0.90 (−1.50; −0.35) | 0.89 | 0.41 | 0.60 |
| Delta Z | 1.27 (0.67; 1.75) | 1.42 (0.97; 2.52) | 0.85 (−0.35; 1.58) | 0.68 | 0.53 | 0.30 |
| CALCR (c.1340T>C; rs 1801197) | ||||||
| CC (n=6) | CT (n=14) | TT (n=30) | P(CC,CT) | P(CC,TT) | P(CT,TT) | |
| Z pre-ERT | −0.89 (−1.38; −0.59) | −1.7 (−2.83; −1.4) | −2.16 (−2.65; −1.50) | 0.240 | 0.041* | 0.998 |
| Z under ERT | −0.25 (−0.73; 1.12) | −0.30 (−0.90; 0.20) | −0.80 (−1.15; 0.05) | 0.89 | 0.40 | 0.62 |
| Delta Z | 0.88 (0.18; 1.83) | 1.60 (1.10; 2.59) | 1.16 (0.73; 2.03) | 0.67 | 0.93 | 0.60 |
| VDR (c.1024+283G>A; rs1544410) | ||||||
| GG (n=6) | GA (n=22) | AA (n=22) | P(GG,GA) | P(GG,AA) | P(GA,AA) | |
| Z pre-ERT | −1.85 (−2.61; −1.05) | −1.47 (−1.81; −0.45) | −2.60 (−2.83; −2.07) | 0.734 | 0.689 | 0.033* |
| Z under ERT | −0.65 (−0.8; −0.12) | −0.40 (−1.10; 0.28) | −0.60 (−1.30; 0.00) | 0.970 | 0.870 | 0.750 |
| Delta Z | 1.94 (1.05; 2.95) | 1.13 (0.50; 1.54) | 1.70 (0.80; 2.63) | 0.580 | 0.990 | 0.120 |
Notes: Values are given as medians and interquartile ranges. Bold values indicate statistically significant values, P<0.05. All P-values for each genotype were corrected for multiple testing;
Bonferroni correction was added for statistically significant P-values (corrected for the three variables that were assessed per each genotype).
Abbreviations: CALCR, calcitonin receptor gene; delta Z, difference between Z score at present and Z score before the start of ERT; ERT, enzyme replacement therapy; ESR1, estrogen receptor α gene; TNFRSF11B (OPG), osteoprotegerin gene; VDR, vitamin D receptor gene.