Table 5.
SNV | Genotype | DAO Activity | p-Value * | p-Value ** | ||
---|---|---|---|---|---|---|
<3 U/mL | 3–10 U/mL | >10 U/mL | ||||
rs10156191 | C/C # | 3 | 14 | 31 | 0.214 | 0.504 |
C/T | 1 | 18 | 21 | |||
T/T | 1 | 6 | 5 | |||
rs1049793 | C/C # | 2 | 13 | 26 | 0.545 | 0.211 |
C/G | 3 | 25 | 27 | |||
G/G | 0 | 0 | 4 | |||
rs2052129 | G/G # | 2 | 17 | 30 | 0.694 | 0.039 |
G/T | 2 | 9 | 21 | |||
T/T | 1 | 12 | 6 |
# The most common allelic frequency in the general population, according to Phan et al., 2020 [17]. * p-Value of the comparison of the number of individuals harboring AOC1-reference genotype versus the two DAO deficiency-associated genotypes (i.e., CC vs. CT + TT for rs10156191 and rs1049742, CC vs. CG + GG for rs1049793 and GG vs. GT + TT for rs2052129) between patients according to their DAO activity levels. ** p-Value of the comparison of the number of individuals harboring AOC1-reference genotype plus heterozygous DAO deficiency-associated genotype versus homozygous DAO deficiency-associated genotype (i.e., CC + CT vs. TT for rs10156191 and rs1049742, CC + CG vs. GG for rs1049793 and GG + GT vs. TT for rs2052129) between patients according to their DAO activity levels.