Table 3.
SNV | Genotype | Patients n = 100 |
Controls n = 100 |
p-Value * | p-Value ** |
---|---|---|---|---|---|
rs10156191 | C/C # | 48 | 61 | 0.065 | 0.037 |
C/T | 40 | 35 | |||
T/T | 12 | 4 | |||
rs1049742 | C/C # | 82 | 87 | 0.329 | 0.316 |
C/T | 17 | 13 | |||
T/T | 1 | 0 | |||
rs1049793 | C/C # | 41 | 50 | 0.201 | 0.733 |
C/G | 55 | 45 | |||
G/G | 4 | 5 | |||
rs2052129 | G/G # | 49 | 53 | 0.572 | <0.001 |
G/T | 32 | 47 | |||
T/T | 19 | 0 |
# 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 the patient and control groups. ** 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 the patient and control groups.