Authors: XiuYu Shi LiPing Zou Guang Yang YingXue Ding Bing He YanHong Sun FeiYong Jia
Publish Date: 2013/06/17
Volume: 9, Issue: 3, Pages: 251-255
Abstract
Serotonin or 5hydroxytryptamine 5HT is an important neurotransmitter in the central nervous system The serotonin transporter 5HTT is a key regulator of the level of serotonergic neurotransmission In the present study the contribution of 5HTT polymorphisms to the risk of infantile spasm IS and the responsiveness to adrenocorticotropic hormone ACTH were investigatedTwo functional polymorphisms the 44bp insertiondeletion polymorphism in the promoter region 5HTTLPR and the variable number tandem repeat in the second intron 5HTTVNTR were genotyped in a Chinese casecontrol study involving 112 patients with IS and 120 controlsGenotyping yielded valid data in 111 patients and 118 controls for 5HTTLPR and 110 patients and 118 controls for 5HTTVNTR The polymorphisms were not found to have an allelic or genotypic association with IS However responsiveness to ACTH was higher in patients who were homozygous for L 91 than in those with S/L 56 or S/S 60 P=0017 Haplotype analysis did not improve the observed association
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