Page 162 - 南京医科大学学报自然科学版
P. 162
第41卷第8期
·1264 · 南 京 医 科 大 学 学 报 2021年8月
TG的水平可能与硫嘌呤类药物的临床疗效和不良反 [J]. Sci Rep,2017,7:46428
应更加相关,是未来该类药物TDM监测的发展方向。 [11] RUDIN S,MARABLE M,HUANG R S. The promise of
综上,包含多基因位点在内的“MINT”测序策略 pharmacogenomics in reducing toxicity during acute lym⁃
结合 DNA⁃TG 活性代谢物水平的治疗药物监测,将 phoblastic leukemia maintenance treatment[J]. Genom⁃
ics,Proteomics Bioinformatics,2017,15(2):82-93
对硫嘌呤类药物精准用药提供高级别的循证支持,
[12] 刘新荣,夏 涛,朱永生,等. 巯基嘌呤甲基转移酶基因
更好地服务于临床。
多态性与急性淋巴细胞白血病6⁃巯基嘌呤化疗不良反
[参考文献] 应关系的Meta 分析[J]. 南京医科大学学报(自然科学
版),2014,34(9):1279-1283
[1] KAKUTA Y,KINOUCHI Y,SHIMOSEGAWA T. Pharma⁃
[13] RELLING M V,GARDNER E E,SANDBORN W J,et al.
cogenetics of thiopurines for inflammatory bowel disease
Clinical Pharmacogenetics Implementation Consortium
in East Asia:prospects for clinical application of
NUDT15 genotyping[J]. J Gastroenterol,2018,53(2): guidelines for thiopurine methyltransferase genotype and
thiopurine dosing[J]. Clin Pharmacol Ther,2011,89(3):
172-180
387-391
[2] HA C,KIM E S,KWON Y,et al. The identification of a
[14] ZIMDAHL K A,HELANDER S,WENNERSTRAND P,
novel thiopurine S⁃methyltransferase allele,TPMT*45,in
et al. Pharmacogenetic studies of thiopurine methyltrans⁃
Korean Patient with Crohn’s Disease[J]. Pharmgenomics
ferase genotype ⁃ phenotype concordance and effect of
Pers Med,2020,13:665⁃671
methotrexate on thiopurine metabolism[J]. Basic Clin
[3] DE BOER N K H,THIOPURINE W G. Thiopurine thera⁃
Pharmacol Toxicol,2021,128(1):52-65
py in inflammatory bowel diseases:making new friends
should not mean losing old ones[J]. Gastroenterology, [15] NAGASAKI M,YASUDA J,KATSUOKA F,et al. Rare
variant discovery by deep whole⁃genome sequencing of 1,
2019,156(1):11-14
070 Japanese individuals[J]. Nat Commun,2015,6:8018
[4] FRICK S,MULLER D,KULLAK⁃UBLICK G A,et al. Do
[16] YAMAGUCHI⁃KABATA Y,NARIAI N,KAWAI Y,et al.
clinical and laboratory parameters predict thiopurine me⁃
iJGVD:an integrative Japanese genome variation data⁃
tabolism and clinical outcome in patients with inflammato⁃
base based on whole ⁃ genome sequencing[J]. Hum Ge⁃
ry bowel diseases?[J]. Eur J Clin Pharmacol,2019,75
nome Var,2015,2:15050
(3):335-342
[17] ZHU X,WANG X D,CHAO K,et al. NUDT15 polymor⁃
[5] CZAJA A J. Review article:opportunities to improve and
phisms are better than thiopurine S⁃methyltransferase as
expand thiopurine therapy for autoimmune hepatitis[J].
predictor of risk for thiopurine⁃induced leukopenia in Chi⁃
Aliment Pharmacol Ther,2020,51(12):1286-1304
nese patients with Crohn’s disease[J]. Aliment Pharma⁃
[6] SOUSA P,ESTEVINHO M M,DIAS C C,et al. Thiopu⁃
rines’metabolites and drug toxicity:a Meta⁃analysis[J]. col Ther,2016,44(9):967-975
J Clin Med,2020,9(7):2216 [18] YANG S K,HONG M,BAEK J,et al. A common mis⁃
[7] WEINSHILBOUM R M,SLADEK S L. Mercaptopurine sense variant in NUDT15 confers susceptibility to thiopu⁃
rine ⁃ induced leukopenia[J]. Nat Genet,2014,46(9):
pharmacogenetics:monogenic inheritance of erythrocyte
thiopurine methyltransferase activity[J]. Am J Hum Gen⁃ 1017-1020
et. 1980,32(5):651-662 [19] SHAH S A,PARADKAR M,DESAI D,et al Nucleoside
[8] ROSDIANA D S,SETIABUDY R,ANDALUSIA R,et al. diphosphate⁃linked moiety X⁃type motif 15 C415T variant
TPMT genetic variability and its association with hemato⁃ as a predictor for thiopurine⁃induced toxicity in Indian pa⁃
toxicity in indonesian children with acute lymphoblastic tients[J]. J Gastroenterol Hepatol,2017,32(3):620-624
leukemia in maintenance therapy[J]. Pharmgenomics [20] YANG J J,LANDIER W,YANG W,et al. Inherited
Pers Med,2021,14:199-210 NUDT15 variant is a genetic determinant of mercaptopu⁃
[9] DREISIG K,BRUNNER E D,MARQUART H V,et al. rine intolerance in children with acute lymphoblastic leu⁃
TPMT polymorphisms and minimal residual disease after kemia[J]. J Clin Oncol,2015,33(11):1235-1242
6⁃mercaptopurine post⁃remission consolidation therapy of [21] MORIYAMA T,NISHII R,PEREZ ⁃ ANDREU V,et al.
childhood acute lymphoblastic leukaemia[J]. J Pediatr NUDT15 polymorphisms alter thiopurine metabolism and
Hematol Oncol,2020,39(3):227-238 hematopoietic toxicity[J]. Nat Genet,2016,48(4):367-
[10] IU Y P H,HELANDER S,KAHLIN A Z,et al. One ami⁃ 373
no acid makes a difference⁃Characterization of a new TP⁃ [22] RELLING M V,SCHWAB M,WHIRL⁃CARRILLO M,et
MT allele and the influence of SAM on TPMT stability al. Clinical pharmacogenetics implementation consortium