Table 2.
Allele frequency | MALD | GWAS | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Locus | SNP | Gene | Alleles1 | Observed2 | CEU3 | YRI4 | Model | LOD Score | n5 | Beta±SE | P-value6 | R27 |
1,25-dihydroxyvitamin D | ||||||||||||
13q21.2 | rs1622710 | A/G | 0.73 | 0.05 | 0.83 | Recessive | 3.20 | |||||
rs183787871 | PCDH20/- | C/T | 0.01 | 34937 | 2.07±0.53 | 9.12E-05 | 0.06 | |||||
12q13.2 | rs11171526 | T/A | 0.34 | 0.97 | 0.23 | Additive | 3.10 | |||||
rs10783612 | CALCOCO1/HOXC13 | C/T | 0.42 | 39571 | −0.34±0.08 | 2.52E-05 | 0.05 | |||||
4p15.32 | rs2872795 | C/T | 0.23 | 0.83 | 0.14 | Additive | 2.82 | |||||
rs144095555 | FAM184B | C/T | 0.01 | 25896 | −0.39±0.11 | 2.18E-04 | 0.001 | |||||
Vitamin D Binding Protein | ||||||||||||
4q13.3 | rs7689609 | A/G | 0.14 | 0.93 | 0.00 | Additive | 11.05 | |||||
rs7041 | GC | C/A | 0.15 | 4472 | 0.52±0.02 | 1.38E-82 | 0.52 | |||||
2q35 | rs16859382 | A/G | 0.38 | 1.00 | 0.19 | Recessive | 2.64 | |||||
rs719325 | SLC4A3/- | T/C | 0.33 | 145403 | −0.09±0.02 | 2.91E-05 | 0.03 | |||||
1q32.2 | rs979698 | A/G | 0.76 | 0.18 | 0.9 | Additive | 2.54 | |||||
rs1284852 | FLVCR1/VASH2 | A/G | 0.61 | 4930 | −0.079±0.021 | 1.33E-04 | 0.03 | |||||
rs4951471 | FLVCR1/VASH2 | A/G | 0.61 | −0.079±0.021 | 1.33E-04 | 0.03 | ||||||
Bioavailable Vitamin D | ||||||||||||
17q12 | rs739753 | A/T | 0.25 | 0.81 | 0.15 | Dominant | 2.58 | |||||
rs4375714 | FAM134C | T/C | 0.46 | 26458 | −0.06±0.01 | 1.03E-04 | 0.03 | |||||
Intact parathyroid hormone | ||||||||||||
9q31.3 | rs7854368 | A/G | 0.29 | 0.74 | 0.17 | Additive | 3.14 | |||||
rs10125548 | KLF4/ACTL7B | A/G | 0.70 | 7395 | −0.13±0.03 | 7.81E-05 | 0.03 | |||||
1q42.2 | rs701185 | A/C | 0.22 | 0.71 | 0.06 | Recessive | 2.69 | |||||
rs623448 | G/A | 0.07 | 4006 | −0.22±0.06 | 1.46E-04 | 0.02 | ||||||
Lumbar Volumetric Bone Mineral Density | ||||||||||||
15q11.2 | rs2719890 | A/G | 0.73 | 0.03 | 0.88 | Dominant | 2.52 | |||||
rs8040786 | NDN/PWRN2 | A/G | 0.06 | 927 | 0.61±0.18 | 5.90E-4 | 0.01 |
Reference/other allele,
AA-DHS (nmax=552),
CEPH (Utah Residents with Northern and Western European Ancestry) (n=60),
Yoruba in Ibadan, Nigeria (n=60),
number of variants (directly genotyped and imputed) in the LOD-1 confidence interval,
Additive model,
Variation in phenotype explained by the genetic variant