Distribution of promoter polymorphisms of MC2R gene in Chinese Han children with infantile spasms
Abstract：Objective Infantile spasm was an age-specific epileptic encephalopathy that occur in early infancy,Adrenocorticotropic Hormone(ACTH)was the first-line treatment of infantile spasms,majority of patients treated effectively.ACTH receptor was the melanocortin 2 receptor(MC2R,also known as ACTH receptor),the single nucleotide polymorphisms in the promoter region of MC2R gene were associated with the pathogenesis of infantile spasms and their drug resistance.To investigate the distribution of MC2R polymorphism in Chinese Han children with infantile spasms.Methods A total of 334 children with infantile spasms were enrolled.Blood samples were collected and the MC2R non-coding region genes were extracted、PCR and sanger sequenced.The data were collated and analyzed.Results Chinese Han children with infantile spasms MC2R gene promoter region TCCT haplotype non-carriers(0/0)accounted for 9.9％of the total number,and heterozygous carriers(TCCT/0)accounted for 60.8％of the total number,homozygous carriers(TCCT/TCCT)accounted for 20.3％of the total number.There were significant differences in sex distribution among the three MC2R polymorphism genotypes(P = 0.035,P ＜ 0.05).There were more boys in TCCT/TCCT genotype and more girls in 0/0 genotype.Conclusion TCCT non-carrier gene(0/0),which has poor response to ACTH,account for a small proportion of the total,about 10％of the total.
Keywords：Infantile spasmsMelanocortin 2 receptorSingle nucleotide polymorphismAdrenocorticotropic Hormone
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 213-216 )