Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients

被引:3
作者
Magadmi, Rania [1 ]
Alyoubi, Reem [2 ]
Moshrif, Tahani [1 ,3 ]
Bakhshwin, Duaa [1 ]
Suliman, Bandar A. [4 ]
Kamel, Fatemah [1 ]
Jamal, Maha [1 ]
Burzangi, Abdulhadi S. [1 ]
Basit, Sulman [5 ,6 ]
机构
[1] King Abdulaziz Univ, Fac Med, Dept Clin Pharmacol, Jeddah 21589, Saudi Arabia
[2] King Abdulaziz Univ, Fac Med, Pediat Dept, Jeddah 21589, Saudi Arabia
[3] King Abdullah Med Complex, Clin Pharm Dept, Jeddah 23816, Saudi Arabia
[4] Taibah Univ, Coll Appl Med Sci, Madinah 42353, Saudi Arabia
[5] Taibah Univ, Coll Med, Biochem & Mol Med Dept, Madinah 42353, Saudi Arabia
[6] Taibah Univ Almadinah, Coll Med, Ctr Genet & Inherited Dis, Medina 42353, Saudi Arabia
关键词
anti-seizure medications; drug response; pediatric neurology; pharmacogenetic; polymorphism; MULTIDRUG-RESISTANCE; ANTIEPILEPTIC DRUGS; P-GLYCOPROTEIN; PHARMACORESISTANCE; PREVALENCE; CHILDREN; C3435T;
D O I
10.3390/biomedicines11092505
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
Epilepsy is one of the most common chronic neurodisorders in the pediatric age group. Despite the availability of over 20 anti-seizure medications (ASMs) on the market, drug-resistant epilepsy still affects one-third of individuals. Consequently, this research aimed to investigate the association between single-nucleotide polymorphisms (SNPs) of the ATP-binding cassette subfamily B member 1 (ABCB1) gene in epileptic pediatric patients and their response to ASMs. This multicentric, cross-sectional study was conducted among Saudi children with epilepsy in Jeddah, Saudi Arabia. The polymorphism variants of ABCB1 rs1128503 at exon 12, rs2032582 at exon 21, and rs1045642 at exon 26 were genotyped using the Sanger sequencing technique. The study included 85 children with epilepsy: 43 patients demonstrated a good response to ASMs, while 42 patients exhibited a poor response. The results revealed that good responders were significantly more likely to have the TT genotypes at rs1045642 and rs2032582 SNPs compared to poor responders. Additionally, haplotype analysis showed that the T-G-C haplotype at rs1128503, rs2032582, and rs1045642 was only present in poor responders. In conclusion, this study represents the first pharmacogenetic investigation of the ABCB1 gene in Saudi epileptic pediatric patients and demonstrates a significant association between rs1045642 and rs2032582 variants and patient responsiveness. Despite the small sample size, the results underscore the importance of personalized treatment for epileptic patients.
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页数:14
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