はじめに
あなたと一部の遺伝子型が一致した方では、今までのゲノム研究から以下の疾患のリスクが高くなる傾向があります。 初期症状に注意して生活するとともにこまめな検診を心掛けることで、あなたの健康維持に繋がります。 前立腺がんなど男性疾患特有の疾患が女性を対象をした検査でもレポートに記載されることがありますが、これは遺伝子多型を元にした推定であり実際に罹患することはありません。2000年代のはじめから、数千〜数万人を対象とした大規模な遺伝子解析研究（GWAS: genome-wide association study）が世界的に実施されています。これらの研究はGWAS Catalogにまとめられており、そのなかでも日本人もしくは東アジア地域で裏付けがなされている疾患を選定し、あなたの遺伝子型を参照して罹患リスクを推定しています。疾患のリスクは遺伝子多型だけでは決まらず、生活習慣によっても大きく変動することが知られておりますので、健康増進の目安としてお役立てください。遺伝子多型の表記(A/Tなど)は今日のゲノム解析で世界標準として利用されている“GRCh38”と呼ばれるヒト参照配列を基準として表記しているため、過去の研究や他の遺伝子検査の表記と一致しない場合があります。
Circos プロット
ゲノム上で疾患と関わりのある領域を示しています。
病気のなりやすさの予測
疾患をカテゴリごとに表示しています。
かかりやすい病気について
かかりやすい病気を表示しています。「かかりやすい」とは日本人の中で 1.2 倍以上の発症リスクのことを示しています。
疾患別の詳細
各遺伝子の多型をもとに疾患リスクを推定して順位付けした結果となります。
遺伝子型ごとの疾患リスクの詳細情報
本項目では、あなたの全ゲノム解析の結果から健康管理に関わりうる変異を抽出し、各疾患に対して個別の遺伝子型を示しています。疾患に対する全体的なリスクは各遺伝子型のリスクの掛け算で求まるため、個々の遺伝子型のリスクは参考値としてご参照ください。
内服に注意が必要な薬
内服に注意が必要な薬を示しています。推奨の内服方法は、原文(英語)で記載しています。実際の内服については医師と相談してください。
オメプラゾール
影響： CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity
注意事項： Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. ( 翻訳 )
効能： 胃酸分泌抑制薬
対象者： general
表現型： CYP2C19: Intermediate Metabolizer
遺伝子： CYP2C19
遺伝子型： *1/*2
デスフルラン
影響： These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675).
注意事項： Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. ( 翻訳 )
効能： 吸入麻酔薬
対象者： general
表現型： CACNA1S: Uncertain Susceptibility | RYR1: Uncertain Susceptibility
遺伝子： CACNA1S | RYR1
遺伝子型： Reference/Reference | Reference/Reference
イソフルラン
影響： These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675).
注意事項： Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. ( 翻訳 )
効能： 吸入麻酔薬
対象者： general
表現型： CACNA1S: Uncertain Susceptibility | RYR1: Uncertain Susceptibility
遺伝子： CACNA1S | RYR1
遺伝子型： Reference/Reference | Reference/Reference
セボフルラン
影響： These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675).
注意事項： Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. ( 翻訳 )
効能： 吸入麻酔薬
対象者： general
表現型： CACNA1S: Uncertain Susceptibility | RYR1: Uncertain Susceptibility
遺伝子： CACNA1S | RYR1
遺伝子型： Reference/Reference | Reference/Reference
アタザナビル
影響： UGT1A1: Reference UGT1A1 activity; very low likelihood of bilirubin-related discontinuation of atazanavir.
注意事項： There is no need to avoid prescribing of atazanavir based on UGT1A1 genetic test result. Inform the patient that some patients stop atazanavir because of jaundice (yellow eyes and skin), but that this patient’s genotype makes this unlikely (less than about a 1 in 20 chance of stopping atazanavir because of jaundice). Other Considerations All studies correlating UGT1A1 genotypes with atazanavir adverse events have involved ritonavir boosting. However, concentration-time profiles are equivalent when boosted with either cobicistat or ritonavir (PMID 23532097), and bilirubin-related adverse events including discontinuation of atazanavir occur in a similar percentage of patients prescribed atazanavir with cobicistat or ritonavir (PMID 23532097). Associations between UGT1A1 genotype, bilirubin elevations, and atazanavir/r discontinuation therefore almost certainly translate to atazanavir/cobicistat. "reference" function refers to the UGT1A1 allele to which other alleles are compared. ( 翻訳 )
効能： 抗HIV薬
対象者： general
表現型： UGT1A1: Normal Metabolizer
遺伝子： UGT1A1
遺伝子型： *1/*1
エファビレンツ
影響： CYP2B6: Normal efavirenz metabolism
注意事項： Initiate efavirenz with standard dosing (600 mg/day) Other Considerations The ENCORE study showed that in treatment-naïve patients randomized to initiate efavirenz-based regimens (combined with tenofovir and emtricitabine), 400 mg/day was non-inferior to 600 mg/day regardless of CYP2B6 genotype (PMID 24522178). ( 翻訳 )
効能： 抗HIV薬
対象者： child >40kg_adult
表現型： CYP2B6: Normal Metabolizer
遺伝子： CYP2B6
遺伝子型： *1/*1
アミトリプチリン
影響： CYP2C19: Reduced metabolism of tertiary amines compared to normal metabolizers:CYP2D6: n/a
注意事項： Initiate therapy with recommended starting dose. Other Considerations Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. ( 翻訳 )
効能： 抗うつ薬
対象者： general
表現型： CYP2C19: Intermediate Metabolizer | CYP2D6: No Result
遺伝子： CYP2C19 | CYP2D6
遺伝子型： *1/*2 | Unknown/Unknown
シタロプラム
影響： CYP2C19: Reduced metabolism when compared to CYP2C19 normal metabolizers. Higher plasma concentrations may increase the probability of side effects.
注意事項： Initiate therapy with recommended starting dose. Consider a slower titration schedule and lower maintenance dose than normal metabolizers. Other Considerations Drug-drug interactions and other patient characteristics (e.g., age, renal function, liver function) should be considered when adjusting dose. ( 翻訳 )
効能： 抗うつ薬
対象者： general
表現型： CYP2C19: Intermediate Metabolizer
遺伝子： CYP2C19
遺伝子型： *1/*2
クロミプラミン
影響： CYP2C19: Reduced metabolism of tertiary amines compared to normal metabolizers:CYP2D6: n/a
注意事項： Initiate therapy with recommended starting dose. Other Considerations Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. ( 翻訳 )
効能： 抗うつ薬
対象者： general
表現型： CYP2C19: Intermediate Metabolizer | CYP2D6: No Result
遺伝子： CYP2C19 | CYP2D6
遺伝子型： *1/*2 | Unknown/Unknown
エスシタロプラム
影響： CYP2C19: Reduced metabolism when compared to CYP2C19 normal metabolizers. Higher plasma concentrations may increase the probability of side effects.
注意事項： Initiate therapy with recommended starting dose. Consider a slower titration schedule and lower maintenance dose than normal metabolizers. Other Considerations Drug-drug interactions and other patient characteristics (e.g., age, renal function, liver function) should be considered when adjusting dose. ( 翻訳 )
効能： 抗うつ薬
対象者： general
表現型： CYP2C19: Intermediate Metabolizer
遺伝子： CYP2C19
遺伝子型： *1/*2
イミプラミン
影響： CYP2C19: Reduced metabolism of tertiary amines compared to normal metabolizers:CYP2D6: n/a
注意事項： Initiate therapy with recommended starting dose. Other Considerations Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. ( 翻訳 )
効能： 抗うつ薬
対象者： general
表現型： CYP2C19: Intermediate Metabolizer | CYP2D6: No Result
遺伝子： CYP2C19 | CYP2D6
遺伝子型： *1/*2 | Unknown/Unknown
セルトラリン
影響： CYP2B6: Normal metabolism of sertraline to less active compounds.:CYP2C19: Reduced metabolism of sertraline to less active compounds when compared to CYP2C19 normal metabolizers.
注意事項： Initiate therapy with recommended starting dose. Consider a slower titration schedule and lower maintenance dose. ( 翻訳 )
効能： 抗うつ薬
対象者： general
表現型： CYP2B6: Normal Metabolizer | CYP2C19: Intermediate Metabolizer
遺伝子： CYP2B6 | CYP2C19
遺伝子型： *1/*1 | *1/*2
トリミプラミン
影響： CYP2C19: Reduced metabolism of tertiary amines compared to normal metabolizers:CYP2D6: n/a
注意事項： Initiate therapy with recommended starting dose. Other Considerations Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. ( 翻訳 )
効能： 抗うつ薬
対象者： general
表現型： CYP2C19: Intermediate Metabolizer | CYP2D6: No Result
遺伝子： CYP2C19 | CYP2D6
遺伝子型： *1/*2 | Unknown/Unknown
フェニトイン
影響： CYP2C9: Normal phenytoin metabolism:HLA-B: n/a
注意事項： No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response, and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. ( 翻訳 )
効能： 抗てんかん薬
対象者： PHT naive
表現型： CYP2C9: Normal Metabolizer
遺伝子： CYP2C9 | HLA-B
遺伝子型： *1/*1 | Unknown/Unknown
フェニトイン
影響： CYP2C9: Normal phenytoin metabolism:HLA-B: n/a
注意事項： No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response, and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. ( 翻訳 )
効能： 抗てんかん薬
対象者： PHT use >3mos
表現型： CYP2C9: Normal Metabolizer
遺伝子： CYP2C9 | HLA-B
遺伝子型： *1/*1 | Unknown/Unknown
カペシタビン
影響： DPYD: Normal DPD activity and "normal" risk for fluoropyrimidine toxicity
注意事項： Based on genotype, there is no indication to change dose or therapy. Use label-recommended dosage and administration. ( 翻訳 )
効能： 抗悪性腫瘍薬
対象者： general
表現型： DPYD: Normal Metabolizer
遺伝子： DPYD
遺伝子型： Reference/Reference
フルオロウラシル
影響： DPYD: Normal DPD activity and "normal" risk for fluoropyrimidine toxicity
注意事項： Based on genotype, there is no indication to change dose or therapy. Use label-recommended dosage and administration. ( 翻訳 )
効能： 抗悪性腫瘍薬
対象者： general
表現型： DPYD: Normal Metabolizer
遺伝子： DPYD
遺伝子型： Reference/Reference
メルカプトプリン
影響： NUDT15: n/a:TPMT: Lower concentrations of TGN metabolites, higher MeTIMP, this is the ‘normal’ pattern. Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression.
注意事項： Based on TPMT status, start with normal starting dose (e.g., 75 mg/m2/day or 1.5 mg/kg/day) and adjust doses of mercaptopurine (and of any other myelosuppressive therapy) without any special emphasis on mercaptopurine compared to other agents. Allow at least 2 weeks to reach steady-state after each dose adjustment (PMID 20354201, 16401827, 11302950). NUDT15 phenotype could not be assigned based on genotyping. If thiopurines are required and either TPMT or NUDT15 status is unknown, monitor closely for toxicity. Other Considerations Normal starting doses vary by race/ethnicity and treatment regimens. If standard dose is below normal recommended dose, dose reduction might not be recommended for intermediate metabolizers. ( 翻訳 )
効能： 抗悪性腫瘍薬
対象者： general
表現型： NUDT15: Indeterminate | TPMT: Normal Metabolizer
遺伝子： NUDT15 | TPMT
遺伝子型： *1/*4 | *1/*1
セレコキシブ
影響： CYP2C9: Normal metabolism
注意事項： Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. ( 翻訳 )
効能： 抗炎症薬
対象者： general
表現型： CYP2C9: Normal Metabolizer
遺伝子： CYP2C9
遺伝子型： *1/*1
フルルビプロフェン
影響： CYP2C9: Normal metabolism
注意事項： Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. ( 翻訳 )
効能： 抗炎症薬
対象者： general
表現型： CYP2C9: Normal Metabolizer
遺伝子： CYP2C9
遺伝子型： *1/*1
イブプロフェン
影響： CYP2C9: Normal metabolism
注意事項： Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. ( 翻訳 )
効能： 抗炎症薬
対象者： general
表現型： CYP2C9: Normal Metabolizer
遺伝子： CYP2C9
遺伝子型： *1/*1
ロルノキシカム
影響： CYP2C9: Normal metabolism
注意事項： Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. ( 翻訳 )
効能： 抗炎症薬
対象者： general
表現型： CYP2C9: Normal Metabolizer
遺伝子： CYP2C9
遺伝子型： *1/*1
メロキシカム
影響： CYP2C9: Normal metabolism
注意事項： Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. ( 翻訳 )
効能： 抗炎症薬
対象者： general
表現型： CYP2C9: Normal Metabolizer
遺伝子： CYP2C9
遺伝子型： *1/*1
ピロキシカム
影響： CYP2C9: Normal metabolism
注意事項： Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. ( 翻訳 )
効能： 抗炎症薬
対象者： general
表現型： CYP2C9: Normal Metabolizer
遺伝子： CYP2C9
遺伝子型： *1/*1
クロピドグレル
影響： CYP2C19: Reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events
注意事項： Avoid standard dose (75 mg) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication. Other Considerations For cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication. ( 翻訳 )
効能： 抗血栓症薬
対象者： CVI ACS PCI
表現型： CYP2C19: Intermediate Metabolizer
遺伝子： CYP2C19
遺伝子型： *1/*2
クロピドグレル
影響： CYP2C19: Reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events
注意事項： No recommendation Other Considerations For non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI. ( 翻訳 )
効能： 抗血栓症薬
対象者： CVI non-ACS non-PCI
表現型： CYP2C19: Intermediate Metabolizer
遺伝子： CYP2C19
遺伝子型： *1/*2
クロピドグレル
影響： CYP2C19: Reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events
注意事項： Consider an alternative P2Y12 inhibitor at standard dose if clinically indicated and no contraindication. Other Considerations For neurovascular indications. Neurovascular disease includes acute ischemic stroke or transient ischemic attack, secondary prevention of stroke, or prevention of thromboembolic events following neurointerventional procedures such as carotid artery stenting and stent-assisted coiling of intracranial aneurysms. Alternative P2Y12 inhibitors not impacted by CYP2C19 genetic variants include ticagrelor and ticlopidine. Prasugrel is contraindicated in patients with a history of stroke or TIA. Given limited outcomes data for genotype-guided anti-platelet therapy for neurovascular indications, selection of therapy should depend on individual patient treatment goals and risks for adverse events. ( 翻訳 )
効能： 抗血栓症薬
対象者： NVI
表現型： CYP2C19: Intermediate Metabolizer
遺伝子： CYP2C19
遺伝子型： *1/*2
ボリコナゾール
影響： CYP2C19: Higher dose-adjusted trough concentrations of voriconazole compared with normal metabolizers
注意事項： Initiate therapy with recommended standard of care dosing Other Considerations Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors, such as drug interactions, hepatic function, renal function, species, site of infection, therapeutic drug monitoring, and comorbidities. ( 翻訳 )
効能： 抗真菌薬
対象者： adults
表現型： CYP2C19: Intermediate Metabolizer
遺伝子： CYP2C19
遺伝子型： *1/*2
ボリコナゾール
影響： CYP2C19: Higher dose-adjusted trough concentrations of voriconazole compared with normal metabolizers
注意事項： Initiate therapy with recommended standard of care dosing Other Considerations Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors, such as drug interactions, hepatic function, renal function, species, site of infection, therapeutic drug monitoring, and comorbidities. ( 翻訳 )
効能： 抗真菌薬
対象者： pediatrics
表現型： CYP2C19: Intermediate Metabolizer
遺伝子： CYP2C19
遺伝子型： *1/*2
ラスブリカーゼ
影響： G6PD: Low risk of acute hemolytic anemia
注意事項： No reason to avoid based on G6PD status ( 翻訳 )
効能： 高尿酸血症治療薬
対象者： general
表現型： G6PD: Normal
遺伝子： G6PD
遺伝子型： B (reference)/B (reference)
ダプソン、ジアフェニルスルホン
影響： G6PD: Low risk of acute hemolytic anemia
注意事項： No reason to avoid based on G6PD status ( 翻訳 )
効能： 合成抗菌剤・免疫抑制剤
対象者： general
表現型： G6PD: Normal
遺伝子： G6PD
遺伝子型： B (reference)/B (reference)
アトルバスタチン
影響： SLCO1B1: Typical myopathy risk and statin exposure
注意事項： Prescribe desired starting dose and adjust doses based on disease-specific guidelines. Other Considerations The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. ( 翻訳 )
効能： 脂質異常症治療薬
対象者： general
表現型： SLCO1B1: Normal Function
遺伝子： SLCO1B1
遺伝子型： *37/*37
フルバスタチン
影響： CYP2C9: Normal exposure.:SLCO1B1: Typical myopathy risk and statin exposure.
注意事項： Prescribe desired starting dose and adjust doses of fluvastatin based on disease-specific guidelines. Other Considerations The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. ( 翻訳 )
効能： 脂質異常症治療薬
対象者： general
表現型： CYP2C9: Normal Metabolizer | SLCO1B1: Normal Function
遺伝子： CYP2C9 | SLCO1B1
遺伝子型： *1/*1 | *37/*37
ピタバスタチン
影響： SLCO1B1: Typical myopathy risk and statin exposure
注意事項： Prescribe desired starting dose and adjust doses based on disease-specific guidelines. Other Considerations The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. ( 翻訳 )
効能： 脂質異常症治療薬
対象者： general
表現型： SLCO1B1: Normal Function
遺伝子： SLCO1B1
遺伝子型： *37/*37
プラバスタチン
影響： SLCO1B1: Typical myopathy risk and statin exposure
注意事項： Prescribe desired starting dose and adjust doses based on disease-specific guidelines. Other Considerations The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. ( 翻訳 )
効能： 脂質異常症治療薬
対象者： general
表現型： SLCO1B1: Normal Function
遺伝子： SLCO1B1
遺伝子型： *37/*37
ロスバスタチン
影響： ABCG2: Increased rosuvastatin exposure as compared to normal function; unknown risk for myopathy; increased lipid lowering effects:SLCO1B1: Typical myopathy risk and statin exposure
注意事項： Prescribe desired starting dose and adjust doses of rosuvastatin based on disease-specific and specific population guidelines. Other Considerations The potential for drug-drug interactions and dose limits based on renal and hepatic function and Asian ancestry should be evaluated prior to initiating rosuvastatin. The effects of drug-drug interactions may be more pronounced resulting in a higher risk of myopathy. ( 翻訳 )
効能： 脂質異常症治療薬
対象者： general
表現型： ABCG2: Decreased Function | SLCO1B1: Normal Function
遺伝子： ABCG2 | SLCO1B1
遺伝子型： rs2231142 reference (G)/rs2231142 variant (T) | *37/*37
シンバスタチン
影響： SLCO1B1: Typical myopathy risk and statin exposure
注意事項： Prescribe desired starting dose and adjust doses based on disease-specific guidelines. Other Considerations The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. ( 翻訳 )
効能： 脂質異常症治療薬
対象者： general
表現型： SLCO1B1: Normal Function
遺伝子： SLCO1B1
遺伝子型： *37/*37
ランソプラゾール
影響： CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity
注意事項： Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. ( 翻訳 )
効能： 消化性潰瘍薬
対象者： general
表現型： CYP2C19: Intermediate Metabolizer
遺伝子： CYP2C19
遺伝子型： *1/*2
メチレンブルー
影響： G6PD: Low risk of acute hemolytic anemia
注意事項： No reason to avoid based on G6PD status ( 翻訳 )
効能： 中毒性メトヘモグロビン血症治療薬
対象者： general
表現型： G6PD: Normal
遺伝子： G6PD
遺伝子型： B (reference)/B (reference)
プリマキン
影響： G6PD: Low risk of acute hemolytic anemia
注意事項： No reason to avoid based on G6PD status ( 翻訳 )
効能： 肺炎治療薬
対象者： general
表現型： G6PD: Normal
遺伝子： G6PD
遺伝子型： B (reference)/B (reference)
アザチオプリン
影響： NUDT15: n/a:TPMT: Lower concentrations of TGN metabolites, higher MeTIMP, this is the ‘normal’ pattern. Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression.
注意事項： Based on TPMT status, start with normal starting dose (e.g., 2-3 mg/kg/day) and adjust doses of azathioprine based on disease-specific guidelines. Allow 2 weeks to reach steady-state after each dose adjustment (PMID 20354201, 11302950, 15606506). NUDT15 status could not be determined based on genotyping. If thiopurines are required and NUDT15 status is unknown, monitor closely for toxicity. Other Considerations Normal starting doses vary by race/ethnicity and treatment regimens. If standard dose is below normal recommended dose, dose reduction might not be recommended for intermediate metabolizers. ( 翻訳 )
効能： 免疫抑制薬
対象者： general
表現型： NUDT15: Indeterminate | TPMT: Normal Metabolizer
遺伝子： NUDT15 | TPMT
遺伝子型： *1/*4 | *1/*1
タクロリムス
影響： CYP3A5: Higher ("normal") dose-adjusted trough concentrations of tacrolimus and increased chance of achieving target tacrolimus concentrations.
注意事項： Initiate therapy with standard recommended dose. Use therapeutic drug monitoring to guide dose adjustments. Other Considerations This recommendation includes the use of tacrolimus in kidney, heart, lung and hematopoietic stem cell transplant patients, and liver transplant patients where the donor and recipient genotypes are identical. Typically with other CYP enzymes, a normal metabolizer would be classified as having normal metabolism, and therefore, the drug dose would not change based on the patient’s genotype. However, in the case of CYP3A5 and tacrolimus, a CYP3A5 expresser (i.e., CYP3A5 normal metabolizer or intermediate metabolizer) would require a higher recommended starting dose and the CYP3A5 non-expresser (i.e., poor metabolizer) would require the standard recommended starting dose. ( 翻訳 )
効能： 免疫抑制薬
対象者： general
表現型： CYP3A5: Poor Metabolizer
遺伝子： CYP3A5
遺伝子型： *3/*3
