Table 4.
Effect of Different Haplotype Combinations of the Low-Frequency (rs117913124) and Common (rs10741657) CYP2R1 Variants on 25OHD Levels
| Haplotypea | Betab | p Value | n |
|---|---|---|---|
| GA GA | −0.02 | 0.79 | 156 |
| AG GA | −0.49 | 0.02 | 23 |
| AG GG | −0.3 | 0.13 | 27 |
| GA GG | 0.01 | 0.87 | 477 |
| GG GG | 0.05 | 0.58 | 330 |
Results are based on individuals from the TUK WGS cohort.
The first allele in each chromatid corresponds to the low-frequency variant rs117913124; the second allele corresponds to the common variant rs10741657. The two AG blocks contain the 25OHD decreasing allele (A) of the low-frequency variant, which is always inherited with the 25OHD decreasing allele (G) of the common variant.
Beta values represent changes in standard deviations of the standardized log-transformed 25OHD levels.