Association of <italic>MDR1</italic> gene polymorphisms with refractory epilepsy in children

Li Gao; Xiaojing Yin; Yan LI; Hai Xiao; Liu Yang; Hongye Fan; Hui QI; Jun Zhang; Jie Feng; Feiyang Zheng

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Association of MDR1 gene polymorphisms with refractory epilepsy in children

VernacularTitle: MDR1基因多态性与儿童难治性癫痫的相关性研究
Author: Li GAO ¹ ; Xiaojing YIN ¹ ; Yan LI ¹ ; Hai XIAO ² ; Liu YANG ¹ ; Hongye FAN ¹ ; Hui QI ¹ ; Jun ZHANG ¹ ; Jie FENG ¹ ; Feiyang ZHENG ³
Author Information

1. Department of Pediatrics, Henan Provincial People’s Hospital, Zhengzhou, Henan 450000, China
2. Institute of Medical Genetics, Henan People’s Hospital, Zhengzhou, Henan 450000, China
3. School of Public Health, Johns Hopkins University, Baltimore, MD 21209, U S A
Publication Type:Journal Article
Keywords: MDR1 gene; Single nucleotide polymorphism; Intractable epilepsy; Genotype
From: Chinese Journal of Medical Genetics 2019;36(11):1073-1076
CountryChina
Language:Chinese
Abstract: Objective:To assess the association of single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) with refractory epilepsy in children.
Methods:Peripheral blood samples were collected from 200 children with epilepsy and 100 healthy controls. Genomic DNA was extracted and subjected to PCR amplification, agarose gel electrophoresis and target site sequencing. Genotypes of rs1922242, rs2235048, rs10808072, rs868755 and rs1202184 loci of the MDR1 gene were analyzed.
Results:No significant difference was found in genotypic distribution and allelic frequencies of the rs1922242, rs2235048, rs10808072 and rs868755 loci between the drug-resistant and drug-sensitive groups. For the rs1202184 locus, a significant difference in genotypic distribution was found (P = 0.008). No significant difference was found in the frequencies of various haplotypes between the two groups.
Conclusion:Genotypes of the rs1202184 locus of the MDR1 gene are associated with refractory epilepsy in children, for which the AA genotype plays a dominant role.