Table 2. Basic characteristics of the individual SNP and the association with serum 25(OH)D concentrations in children, adults and all combined.
Children (n = 344) | Adults (n = 414) | All (n = 758) | ||||||||||||||
SNP | MMAF | HWE | M/m | Gt | N | 25(OH)D, | p1 | padj 2 | N | 25(OH)D, | p1 | padj 2 | N | 25(OH)D, | p1 | padj 2 |
nmol/L | nmol/L | nmol/L | ||||||||||||||
(95% CI) | (95% CI) | (95% CI) | ||||||||||||||
CYP2R1 | ||||||||||||||||
rs7116978 | 38.8 | 0.25 | C/T | CC | 124 | 67.6 (65.0–70.2) | <0.0001 | <0.0001 | 156 | 67.5 (64.2–71.0) | 0.0218 | 0.0093 | 280 | 67.5 (65.3–69.8) | <0.0001 | <0.0001 |
CT | 158 | 73.9 (71.4–76.6) | 180 | 72.8 (69.5–76.3) | 338 | 73.3 (71.2–75.6) | ||||||||||
TT | 54 | 79.1 (74.5–83.9) | 66 | 77.5 (71.8–83.8) | 120 | 78.2 (74.4–82.3) | ||||||||||
rs10741657 | 40.8 | 0.31 | G/A | GG | 118 | 67.9 (65.2–70.7) | <0.0001 | <0.0001 | 150 | 66.6 (63.3–70.1) | 0.0039 | 0.0067 | 268 | 67.2 (65.0–69.5) | <0.0001 | <0.0001 |
GA | 175 | 73.9 (71.5–76.4) | 190 | 74.0 (70.7–77.4) | 365 | 73.9 (71.8–76.1) | ||||||||||
AA | 51 | 78.8 (74.1–83.7) | 74 | 75.2 (69.9–80.9) | 125 | 76.6 (73.0–80.5) | ||||||||||
rs1562902 | 45.2 | 0.37 | T/C | TT | 103 | 68.9 (65.9–71.9) | 0.0233 | 0.0086 | 129 | 67.5 (63.9–71.4) | 0.0574 | 0.0353 | 232 | 68.1 (65.7–70.6) | 0.0022 | 0.0005 |
TC | 172 | 73.7 (71.2–76.2) | 196 | 73.3 (70.0–76.6) | 368 | 73.5 (71.4–75.6) | ||||||||||
CC | 69 | 75.0 (71.0–79.1) 79.1 | 89 | 73.4 (68.6–78.5) | 158 | 74.1 (70.9–77.4) | ||||||||||
rs10766197 | 46.9 | 0.15 | G/A | GG | 97 | 76.0 (72.7–79.5) | 0.0048 | 0.0006 | 124 | 73.0 (69.0–77.3) | 0.0557 | 0.0081 | 221 | 74.3 (71.6–77.1) | 0.0013 | <0.0001 |
AG | 168 | 72.7 (70.2–75.2) | 191 | 73.2 (69.9–76.6) | 359 | 72.9 (70.8–75.1) | ||||||||||
AA | 79 | 67.9 (64.6–71.4) | 98 | 66.2 (62.1–70.5) | 177 | 66.9 (64.2–69.8) | ||||||||||
CYP24A1 | ||||||||||||||||
rs6013897 | 20.3 | 0.77 | T/A | TT | 219 | 73.5 (71.3–75.8) | 0.2887 | 0.5044 | 264 | 71.8 (69.1–74.7) | 0.9033 | 0.7058 | 483 | 72.6 (70.8–74.4) | 0.4702 | 0.5228 |
AT | 114 | 70.7 (67.8–73.8) | 132 | 70.9 (67.1–74.9) | 246 | 70.8 (68.4–73.4) | ||||||||||
AA | 11 | 69.5 (60.7–79.5) | 18 | 70.0 (60.3–81.3) | 29 | 69.8 (63.0–77.4) | ||||||||||
rs4809960 | 22.7 | 0.35 | T/C | TT | 198 | 72.0 (69.7–74.3) | 0.8163 | 0.5674 | 244 | 72.2 (69.3–75.1) | 0.3402 | 0.2786 | 442 | 72.1 (70.2–74.0) | 0.4658 | 0.0663 |
TC | 121 | 72.9 (70.0–76.0) | 152 | 69.7 (66.2–73.3) | 273 | 71.1 (68.7–73.5) | ||||||||||
CC | 25 | 73.8 (67.5–80.7) | 18 | 77.2 (66.5–89.6) | 43 | 75.2 (69.1–81.9) | ||||||||||
rs2296241 | 49.0 | 0.37 | G/A | GG | 90 | 68.9 (65.8–72.2) | 0.0301 | 0.1111 | 103 | 70.3 (66.0–74.8) | 0.6048 | 0.6078 | 193 | 69.6 (66.9–72.5) | 0.0801 | 0.0501 |
AG | 164 | 72.9 (70.4–75.4) | 216 | 71.1 (68.1–74.3) | 380 | 71.9 (69.9–74.0) | ||||||||||
AA | 90 | 75.4 (71.9–79.0) | 95 | 73.5 (68.8–78.4) | 185 | 74.4 (71.4–77.5) | ||||||||||
rs17219315 | 3.1 | 0.75 | A/G | AA | 342 | 72.3 (70.6–74.1) | 0.0895 | 0.1836 | 401 | 71.4 (69.1–73.7) | 0.6621 | 0.3828 | 743 | 71.8 (70.3–73.3) | 0.3674 | 0.2381 |
AG | 2 | 95.4 (69.5–130.9) | 13 | 74.3 (62.3–88.6) | 15 | 76.8 (66.5–88.7) | ||||||||||
rs2426496 | 27.7 | 0.51 | G/T | GG | 176 | 71.3 (68.9–73.8) | 0.3094 | 0.2500 | 214 | 70.5 (67.5–73.6) | 0.6377 | 0.7896 | 390 | 70.8 (68.9–72.9) | 0.2573 | 0.2500 |
GT | 135 | 73.2 (70.4–76.0) | 171 | 72.3 (68.9–75.9) | 306 | 72.7 (70.4–75.0) | ||||||||||
TT | 33 | 75.8 (70.1–81.9) | 29 | 73.9 (65.7–83.1) | 62 | 74.9 (69.8–80.4) | ||||||||||
CYP27B1 | ||||||||||||||||
rs10877012 | 33.5 | 0.02 | G/T | GG | 156 | 72.8 (70.2–75.4) | 0.1846 | 0.5758 | 193 | 71.0 (67.9–74.4) | 0.7822 | 0.9451 | 349 | 71.8 (69.7–74.0) | 0.3792 | 0.9918 |
GT | 142 | 73.4 (70.7–76.2) | 163 | 72.4 (68.9–76.0) | 305 | 72.9 (70.6–75.2) | ||||||||||
TT | 46 | 68.4 (64.1–73.1) | 57 | 69.9 (64.3–76.0) | 103 | 69.2 (65.5–73.2) | ||||||||||
C10orf88 | ||||||||||||||||
rs6599638 | 47.8 | 0.20 | G/A | GG | 98 | 72.5 (69.3–75.8) | 0.3569 | 0.3197 | 106 | 72.0 (67.7–76.6) | 0.8394 | 0.8797 | 204 | 73.3 (69.5–75.1) | 0.8349 | 0.8821 |
GA | 171 | 73.5 (71.0–76.0) | 219 | 70.8 (67.8–73.9) | 390 | 71.9 (69.9–74.0) | ||||||||||
AA | 75 | 70.2 (66.6–73.9) | 88 | 72.2 (67.4–77.2) | 163 | 71.2 (68.2–74.4) | ||||||||||
DHCR7/NADSYN1 | ||||||||||||||||
rs1790349 | 15.1 | 0.55 | A/G | AA | 232 | 71.6 (69.6–73.7) | 0.0174 | 0.0923 | 300 | 70.9 (68.4–73.6) | 0.2381 | 0.3478 | 532 | 71.2 (69.5–73.0) | 0.3767 | 0.8787 |
GA | 105 | 73.2 (70.1–76.4) | 103 | 73.9 (69.5–78.7) | 208 | 73.6 (70.8–76.5) | ||||||||||
GG | 7 | 91.5 (77.4–108.3) | 11 | 63.2 (52.2–76.5) | 18 | 73.0 (64.0–83.2) | ||||||||||
rs12785878 | 27.5 | 0.84 | T/G | TT | 171 | 72.8 (70.4–75.4) | 0.9087 | 0.7649 | 218 | 73.0 (69.9–76.2) | 0.4356 | 0.2169 | 389 | 72.9 (70.9–75.0) | 0.4273 | 0.0998 |
GT | 147 | 72.1 (69.5–74.9) | 163 | 69.6 (66.2–73.1) | 310 | 70.8 (68.6–73.1) | ||||||||||
GG | 26 | 71.7 (65.7–78.4) | 32 | 69.9 (62.5–78.2) | 58 | 70.7 (65.7–76.1) | ||||||||||
GC | ||||||||||||||||
rs16846876 | 33.2 | 0.88 | A/T | AA | 158 | 76.5 (73.9–79.2) | <0.0001 | 0.0004 | 184 | 74.1 (70.7–77.6) | 0.0161 | 0.0024 | 342 | 75.2 (73.0–77.4) | <0.0001 | <0.0001 |
AT | 153 | 70.3 (67.8–72.8) | 185 | 70.9 (67.7–74.3) | 338 | 70.6 (68.5–72.8) | ||||||||||
TT | 33 | 64.5 (59.8–69.6) | 45 | 63.6 (57.9–69.8) | 78 | 64.0 (60.1–68.1) | ||||||||||
rs12512631 | 36.2 | 0.62 | T/C | TT | 137 | 68.6 (66.1–71.2) | 0.0007 | 0.0012 | 166 | 66.8 (63.6–70.1) | 0.0022 | 0.0004 | 303 | 67.6 (65.5–69.8) | <0.0001 | <0.0001 |
TC | 157 | 74.4 (71.8–77.1) | 196 | 74.6 (71.3–78.0) | 353 | 74.5 (72.4–76.7) | ||||||||||
CC | 50 | 77.5 (72.8–82.5) | 52 | 75.3 (69.0–82.1) | 102 | 76.4 (72.3–80.6) | ||||||||||
rs17467825 | 27.6 | 0.53 | A/G | AA | 181 | 76.3 (73.9–78.8) | <0.0001 | <0.0001 | 219 | 73.8 (70.7–77.0) | 0.0519 | 0.0015 | 400 | 74.9 (72.9–77.0) | <0.0001 | <0.0001 |
GA | 142 | 70.1 (67.6–72.7) | 160 | 70.0 (66.6–73.6) | 302 | 70.1 (67.9–72.3) | ||||||||||
GG | 21 | 57.7 (52.5–63.3) | 34 | 63.6 (57.1–70.8) | 55 | 61.2 (56.9–65.9) | ||||||||||
rs2282679 | 27.4 | 0.41 | A/C | AA | 181 | 76.3 (73.9–78.8) | <0.0001 | <0.0001 | 219 | 73.8 (70.7–77.0) | 0.0672 | 0.0020 | 400 | 74.9 (72.9–77.0) | <0.0001 | <0.0001 |
CA | 138 | 70.0 (76.4–72.6) | 156 | 70.1 (66.6–73.7) | 294 | 70.0 (67.8–72.3) | ||||||||||
CC | 21 | 57.7 (52.5–63.3) | 34 | 63.6 (57.1–70.8) | 55 | 61.2 (56.9–65.9) | ||||||||||
rs842999 | 4.5 | 0.65 | G/C/A | GG | 105 | 76.7 (73.5–80.0) | <0.0001 | <0.0001 | 112 | 74.2 (70.0–78.7) | 0.0114 | 0.0046 | 217 | 75.4 (72.7–78.3) | <0.0001 | <0.0001 |
GC | 153 | 72.6 (70.1–75.2) | 188 | 73.7 (70.4–77.1) | 341 | 73.2 (71.1–75.4) | ||||||||||
CC | 57 | 63.7 (60.2–67.5) | 75 | 66.6 (61.9–71.5) | 132 | 65.3 (62.3–68.5) | ||||||||||
GA | 19 | 74.3 (67.3–82.1) | 23 | 64.9 (57.0–73.9) | 42 | 69.0 (63.4–75.1) | ||||||||||
CA | 7 | 76.3 (64.6–89.6) | 12 | 55.8 (46.6–66.9) | 19 | 62.6 (55.2–71.0) | ||||||||||
AA | 0 | - | 1 | 75.5 (40.5–140.9) | 1 | 75.5 (43.6–130.8) | ||||||||||
rs4588 | 27.7 | 0.57 | C/A | CC | 181 | 76.3 (73.9–78.8) | <0.0001 | <0.0001 | 219 | 74.1 (71.0–77.3) | 0.0167 | 0.0008 | 400 | 75.1 (73.1–77.2) | <0.0001 | <0.0001 |
CA | 142 | 70.1 (67.6–72.7) | 161 | 69.7 (66.3–73.2) | 303 | 69.9 (67.7–72.1) | ||||||||||
AA | 21 | 57.7 (52.5–63.3) | 34 | 63.6 (57.1–70.8) | 55 | 61.2 (56.9–65.9) | ||||||||||
rs222020 | 15.6 | 0.13 | T/C | TT | 250 | 70.5 (68.6–72.5) | 0.0009 | 0.0021 | 291 | 70.5 (67.9–73.1) | 0.1954 | 0.5338 | 541 | 70.5 (68.8–72.2) | 0.0103 | 0.0739 |
TC | 88 | 78.4 (74.8–82.1) | 117 | 73.2 (69.1–77.6) | 205 | 75.4 (72.5–78.4) | ||||||||||
CC | 6 | 69.7 (58.3–83.5) | 6 | 86.4 (66.7–111.8) | 12 | 77.6 (66.1–91.1) | ||||||||||
rs2298849 | 20.2 | 0.57 | T/C | TT | 229 | 71.1 (69.1–73.2) | 0.0170 | 0.2204 | 262 | 70.3 (67.6–73.1) | 0.4399 | 0.4591 | 491 | 70.7 (69.0–72.5) | 0.0390 | 0.2605 |
CT | 99 | 75.4 (72.1–78.8) | 137 | 73.4 (69.5–77.5) | 236 | 74.2 (71.6–77.0) | ||||||||||
CC | 15 | 71.1 (63.4–79.7) | 15 | 73.3 (62.3–86.3) | 30 | 72.2 (65.2–79.9) | ||||||||||
VDR | ||||||||||||||||
rs731236 | 40.3 | 0.18 | T/C | TT | 113 | 70.0 (67.1–73.0) | 0.1929 | 0.0753 | 154 | 68.9 (65.4–72.5) | 0.1499 | 0.1306 | 267 | 69.3 (67.0–71.7) | 0.0753 | 0.0346 |
TC | 181 | 74.2 (71.8–76.7) | 186 | 72.3 (69.0–75.7) | 367 | 73.2 (71.1–75.4) | ||||||||||
CC | 49 | 72.0 (67.5–76.7) | 74 | 74.9 (69.6–80.6) | 123 | 73.7 (70.1–77.5) | ||||||||||
rs757343 | 11.5 | 0.45 | G/A | GG | 261 | 73.9 (71.9–76.0) | 0.0134 | 0.0103 | 326 | 72.2 (69.7–74.7) | 0.2350 | 0.0896 | 587 | 72.9 (71.3–74.6) | 0.0144 | 0.0025 |
AG | 77 | 68.4 (65.1–72.0) | 81 | 69.6 (64.9–74.7) | 158 | 69.1 (66.1–72.2) | ||||||||||
AA | 6 | 63.7 (53.1–76.3) | 7 | 59.9 (47.1–76.0) | 13 | 61.6 (52.8–71.9) | ||||||||||
rs10783219 | 36.4 | 0.10 | A/T | AA | 147 | 72.5 (69.8–75.2) | 0.9862 | 0.7067 | 160 | 70.1 (66.7–73.7) | 0.4908 | 0.3913 | 307 | 71.2 (69.0–73.5) | 0.6600 | 0.2023 |
TA | 152 | 72.6 (70.0–75.2) | 207 | 71.8 (68.7–75.0) | 359 | 72.1 (70.0–74.3) | ||||||||||
TT | 45 | 72.1 (67.4–77.1) | 47 | 74.6 (68.0–81.8) | 92 | 73.4 (69.2–77.8) | ||||||||||
rs7139166 | 43.0 | 0.48 | C/G | CC | 114 | 72.4 (69.5–75.5) | 0.6063 | 0.4251 | 131 | 73.2 (69.2–77.3) | 0.2755 | 0.4324 | 245 | 72.8 (70.3–75.5) | 0.8342 | 0.7845 |
CG | 167 | 71.6 (69.2–74.1) | 210 | 71.7 (68.6–74.8) | 377 | 71.6 (69.6–73.7) | ||||||||||
GG | 62 | 74.9 (70.8–79.3) | 73 | 67.9 (63.0–73.1) | 135 | 71.0 (67.7–74.5) |
Bold numbers represent significant P values.
SNP single nucleotide polymorphism (ordered by position), MAF minor allele frequency for the adult population in procent, HWE P-values for Hardy-Weinberg equilibrium in the adult population, M/m major and minor alleles, Gt genotype, Mean, raw serum 25(OH)D concentrations were log-transformed to approximate a normal distribution an given as geometric mean (nmol/L), 95% CI 95%-confident interval.
Unadjusted P values.
Adjusted P values. Linear mixed models with family as a random factor, adjusted for age, sex, BMI, ski and sun holidays, use of solarium, dietary vitamin D intake, use of multivitamin and vitamin D supplementation.