N-acetyltransferase Gene Variants Involved in Pediatric Idiosyncratic Drug-Induced Liver Injury

被引：0

作者：

Ales-Palmer, Maria Luisa ^{[1
,2
]}

Andujar-Vera, Francisco ^{[3
]}

Iglesias-Baena, Ivan ^{[4
]}

Munoz-de-Rueda, Paloma ^{[5
]}

Ocete-Hita, Esther ^{[1
,2
,6
]}

机构：

[1] Univ Granada, Dept Pediat, Granada 18016, Spain

[2] Virgen de las Nieves Univ Hosp, Dept Pediat, Granada 18014, Spain

[3] Inst Invest Biosanitaria ibs GRANADA, Bioinformat Unit, Granada 18012, Spain

[4] GenAct Clin & Res, Res Unit, Granada 18193, Spain

[5] Inst Invest Biosanitaria ibs GRANADA, Res Support Unit, Granada 18012, Spain

[6] Inst Invest Biosanitaria ibs GRANADA, Granada 18012, Spain

来源：

BIOMEDICINES | 2024年 / 12卷 / 06期

关键词：

DILI; whole-exome sequencing; risk factors; hepatotoxicity; liver injury; children; NAT-2; polymorphism; NAT2; PHARMACOGENETICS; POLYMORPHISMS; SULFAMETHOXAZOLE; HEPATOTOXICITY; SUSCEPTIBILITY; PREDICTION; OVERWEIGHT; INFANTS; OBESE;

D O I：

10.3390/biomedicines12061288

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Idiosyncratic drug-induced liver injury (DILI) is a complex multifactorial disease in which the toxic potential of the drug, together with genetic and acquired factors and deficiencies in adaptive processes, which limit the extent of damage, may determine susceptibility and make individuals unique in their development of hepatotoxicity. In our study, we sequenced the exomes of 43 pediatric patients diagnosed with DILI to identify important gene variations associated with this pathology. The result showed the presence of two variations in the NAT2 gene: c.590G>A (p.Arg197Gln) and c.341T>C (p.Ile114Thr). These variations could be found separately or together in 41 of the 43 patients studied. The presence of these variations as a risk factor for DILI could confirm the importance of the acetylation pathway in drug metabolism.

引用

页数：13

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