Table 1 Single nucleotide polymorphisms identified in genome-wide analyses for circulating 25-hydroxyvitamin D concentrations
Gene | SNP | Chromosome: Position | Effect/reference allele | Allele frequency | Meta-GWAS estimates | ||
|---|---|---|---|---|---|---|---|
Effect (Beta) | Standard Error | P-value | |||||
First stage discovery meta-GWAS (N = 79,366) | |||||||
GC | rs3755967 | 4:72828262 | T/C | 0.28 | −0.089 | 0.0023 | 4.74E–343 |
NADSYN1/ DHCR7 | rs12785878 | 11:70845097 | T/G | 0.75 | 0.036 | 0.0022 | 3.80E–62 |
CYP2R1 | rs10741657 | 11:14871454 | A/G | 0.4 | 0.031 | 0.0022 | 2.05E–46 |
CYP24A1 | rs17216707 | 20:52165769 | T/C | 0.79 | 0.026 | 0.0027 | 8.14E–23 |
AMDHD1 | rs10745742 | 12:94882660 | T/C | 0.4 | 0.017 | 0.0022 | 1.88E–14 |
SEC23A | rs8018720 | 14:38625936 | C/G | 0.82 | −0.017 | 0.0029 | 4.72E–09 |
Replication data set 1: samples collected by EPIC (N = 40,562) | |||||||
AMDHD1 | rs10745742 | 12:94882660 | T/C | 0.41 | 0.041 | 0.0071 | 1.21E–08 |
SEC23A | rs8018720 | 14:38625936 | C/G | 0.83 | −0.032 | 0.0093 | 5.24E–04 |
Replication data set 2: additional control samples collected by SOCCS (N=2195) | |||||||
AMDHD1 | rs10745742 | 12:94882660 | T/C | 0.37 | 0.045 | 0.021 | 0.03 |
SEC23A | rs8018720 | 14:38625936 | C/G | 0.81 | −0.051 | 0.026 | 0.04 |
Pooled analysis (discovery meta-GWAS + replication 1 + replication 2) (N = 122,123) | |||||||
AMDHD1 | rs10745742 | 12:94882660 | T/C | 0.39 | 0.019 | 0.002 | 2.10E–20 |
SEC23A | rs8018720 | 14:38625936 | C/G | 0.82 | −0.019 | 0.0027 | 1.11E–11 |