05 February 2024: Articles
Pharmacogenetic Analysis of an 8-Year Old Girl with Reye Syndrome Associated with Use of Naproxen
Challenging differential diagnosis, Diagnostic / therapeutic accidents, Management of emergency care, Unexpected drug reaction, Rare disease, Clinical situation which can not be reproduced for ethical reasons
Byungwook Kim A , Joo-Youn Cho D , Ildae Song ** , Jaeseong Oh **DOI: 10.12659/AJCR.942242
Am J Case Rep 2024; 25:e942242
Table 3. Drug metabolizing enzymes and transporters (DMET) test results for genes with homozygote variants.
| Genes | RS number | Common name | Results |
|---|---|---|---|
| rs2070673 | CYP2E1*7_-333T>A(Promoter) | A/A | |
| rs2463437 | CHST11_c.*2506G>A | A/A | |
| rs1048662 | CHST11_c.*4046A>G | G/G | |
| rs1051332 | ATP7B_c.*1172G>A | T/T | |
| rs1801249 | ATP7B_c.3419T>C(V1140A) | G/G | |
| rs732774 | ATP7B_c.2855G>A(R952K) | T/T | |
| rs1061472 | ATP7B_c.2495A>G(K832R) | C/C | |
| rs2297322 | SLC15A1_c.350G>A(S117N) | T/T | |
| rs2281677 | SLC7A7_c.-86C>T | A/A | |
| rs2069514 | CYP1A2*1C_-3860G>A(Promoter) | A/A | |
| rs35694136 | CYP1A2*1D_-2467delT(Promoter) | –/– | |
| rs3743369 | SLCO3A1_c.*1204G>A | A/A | |
| rs11401 | CCDC101_c.846A>G(R282R) | G/G | |
| rs4788172 | SPN_G>A(rs4788172) | A/A | |
| rs1060463 | CYP4F11_20043G>A(D446N) | T/T | |
| rs3765070 | CYP4F11_4927T>C(I106I) | G/G | |
| rs3869579 | CYP2A7_c.931C>T(R311C) | A/A | |
| rs305968 | CYP2F1_96G>A(P32P) | A/A | |
| rs5085 | APOA2_c.185+197G>C | G/G | |
| rs1736565 | FMO6_906-3127T>C | C/C | |
| rs3787728 | CBR1_c.397+538C>T | T/T | |
| rs8133052 | CBR3_c.11G>A(C4Y) | A/A | |
| rs11684227 | AOX1_A>G(rs11684227) | G/G | |
| rs171248 | SLC22A14_T>C(rs171248) | C/C | |
| rs183574 | SLC22A14_A>C(rs183574) | C/C | |
| rs149738 | SLC22A14_2596A>G | G/G | |
| rs1966151 | UGT2B4_c.*225T>C | G/G | |
| rs3822172 | SULT1E1_c.-9-469A>G | C/C | |
| rs1881668 | SULT1E1_c.-10+311G>C | G/G | |
| rs2267664 | PPARD_c.-186+1796G>A | A/A | |
| rs3798343 | PPARD_c.-101-21071C>G | G/G | |
| rs2049900 | AKAP9_c.11687-648C>G | G/G | |
| rs2140516 | SLC13A1_c.521A>G(N174S) | C/C | |
| rs2204295 | SLC13A1_c.99+1812C>G | C/C | |
| rs1880179 | SLC13A1_c.99+1269C>A | T/T | |
| rs4986993 | NAT1_1191G>T(3’UTR) | T/T | |
| rs1799930 | NAT2*6_c.590G>A(R197Q) | A/A | |
| rs1138541 | SLCO5A1_c.*476G>A | T/T | |
| rs16936279 | SLCO5A1_c.*295A>C | G/G | |
| rs13959 | ALDH1A1_c.225C>T(S75S) | A/A | |
| All the SNPs presented in this table were homozygote for minor alleles in their respective genes. RS – reference; SNP – single-nucleotide polymorphism. | |||