Table 3.

Associations between SNPs in the vitamin D₃ pathway genes with serum 25(OH)D₃, 24,25(OH)₂D₃ and 1,25(OH)₂D₃ levels at baseline and after 90-days of D₃ supplementation

D3 metabolites	Gene	SNP ID	Function	Baseline (N = 313)		After D3 supplementation (N = 50)a
				β	p valueb	β	p valueb
25(OH)D3	GC (VDBP)	rs4588	Exon/Missense	−2.43	0.017	−0.19	0.0009
		rs2282679	Intron	−2.49	0.015	−0.19	0.0008
		rs222016	Intron	2.24	0.035	Not significant
	CYP2R1	rs10500804	Intron	Not significant		−0.13	0.04
		rs12794714	Exon/Synonymous			−0.13	0.04
		rs7129781	Intron			0.23	0.04
	CYP24A1	rs111675277	Intron	5.15	0.028	Not significant
	VDR	rs11168267	Intron	−3.59	0.030
24,25(OH)2D3	CYP2R1	rs7129781	Intron	Not significant		0.53	0.02
	CYP24A1	rs6022999	Intron			−0.32	0.02
	VDR	rs11574077	Intron	0.71	0.023	Not significant
1,25(OH)2D3	GC (VDBP)	rs4588	Exon/Missense	−4.86	0.0008c	−0.28	0.01
		rs2282679	Intron	−4.69	0.0012	−0.27	0.02
		rs222016	Intron	3.40	0.025	Not significant
	CYP24A1	rs2762934	mRNA-untranslated	−4.01	0.010
		rs2762939	Intron	−3.72	0.007
	VDR	rs2525044	Intron	Not significant		−0.34	0.007
		rs11574077	Intron			0.59	0.01
		rs739837	mRNA-untranslated			−0.42	0.002
		rs7975232	Intron			−0.43	0.001

Only significant association (p < 0.05) between SNPs and either baseline or day-90 plasma vitamin D₃ variables are shown. The only baseline and day-90 overlapping associations were between GC (rs4855 and rs2282679) with both 25(OH)D₃ and 1,25(OH)₂D₃. SNPs in linkage disequilibrium [LD]: rs4855/rs2282679 (r² = 0.98), rs10500804/rs12794714 (r² = 1.0) and rs7975232/rs739837 (r ² = 0.9). CYP2R1 rs7129781 was associated with high 25(OH)D₃ and 24,25(OH)₂D₃ levels after D₃ supplementation while VDR rs11574077 was associated with high 1,25(OH)₂D₃ levels

^aMost frequent genotype was used as reference and compared with pooled heterozygous and rare genotypes because of small sample size

^bRaw p values (not corrected for multiple testing)

^cThe only significant association after multiple testing