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. 2014 Feb 27;9(2):e89907. doi: 10.1371/journal.pone.0089907

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.

1

Unadjusted P values.

2

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.