TABLE 3.
Association of c.85T > C and c.496A > G with UH2/U ratios depends on haplotype structure
| Haplotype frequencies | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Haplotype | DPYD c.85T > C | DPYD c.496A > G | DPYD c.1129‐5923C > G | P‐valuea | Log2 βa | % change in ratiosa | Combined cohortb | Sistonen et al.20 | Hamzic et al. | Nie et al.22 | LD LINKc |
| (%/n) | (%) | (%) | (%) | (%) | |||||||
| H1 | T | A | C | Base haplotype | 72.2/1201 | 74.3 | 73.9 | 66.8 | 75.6 | ||
| H2 | C | A | C | .004 | 0.119 | 8.6% | 12.2/203 | 11.8 | 12.4 | 12.4 | 10.2 |
| H3 | C | G | C | .003 | −0.146 | −9.6% | 8.1/135 | 9.1 | 9.1 | 4.9 | 9.1 |
| H4 | C | A | G | <.0001 | −0.266 | −16.8% | 4.4/73 | 1.4 | 1.7 | 12.8 | 2.2 |
| H5 | T | G | C | .002 | −0.267 | −16.9% | 2.7/45 | 3.2 | 2.5 | 2.2 | 2.9 |
| H6 | T | A | G | .765 | −0.069 | −4.7% | 0.4/7 | 0.0 | 0.4 | 0.9 | 0.0 |
Minor alleles are in bold and underlined.
a
β‐coefficients and P‐values were calculated in the complete cohort using a multivariate model with sex, study cohort and DPYD risk variants as independent variables; P‐values < .01 are in bold, and % change in ratios is given per allele.
b
The observed haplotype frequency does not reflect true population frequencies because the Nie et al. cohort is enriched for DPYD risk variants. Total sample size n = 1664 haplotypes.
c
Frequencies for the European population obtained from LDhap Tool, https://ldlink.nci.nih.gov/.