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. Author manuscript; available in PMC: 2017 Jun 1.
Published in final edited form as: Bone. 2016 Mar 24;87:71–77. doi: 10.1016/j.bone.2016.01.028

Table 2.

Summary of SNPs linked (LOD>2.50) in the MALD analysis of vitamin D concentrations, parathyroid hormone concentrations, and bone mineral density with fine-mapping from GWAS data in the AA-DHS sample.

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
1

Reference/other allele,

2

AA-DHS (nmax=552),

3

CEPH (Utah Residents with Northern and Western European Ancestry) (n=60),

4

Yoruba in Ibadan, Nigeria (n=60),

5

number of variants (directly genotyped and imputed) in the LOD-1 confidence interval,

6

Additive model,

7

Variation in phenotype explained by the genetic variant