title: Association of serotonin transporter polymorphisms with responsiveness to adrenocorticotropic hormone in infantile spasm.
abstract: BACKGROUND
  Serotonin or 5-hydroxytryptamine (5-HT) is an important neurotransmitter in the central nervous system. The serotonin transporter (5-HTT) is a key regulator of the level of serotonergic neurotransmission. In the present study, the contribution of 5-HTT polymorphisms to the risk of infantile spasm (IS) and the responsiveness to adrenocorticotropic hormone (ACTH) were investigated.
  
  
  METHODS
  Two functional polymorphisms, the 44-bp insertion-deletion polymorphism in the promoter region (5-HTTLPR) and the variable number tandem repeat in the second intron (5-HTTVNTR), were genotyped in a Chinese case-control study involving 112 patients with IS and 120 controls.
  
  
  RESULTS
  Genotyping yielded valid data in 111 patients and 118 controls for 5-HTTLPR and 110 patients and 118 controls for 5-HTTVNTR. 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=0.017). Haplotype analysis did not improve the observed association.
  
  
  CONCLUSIONS
  The results suggest that the 5-HTTLPR genotype may influence the responsiveness to ACTH. This interpretation deserves further study.
authors.affiliation: Department of Pediatrics, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China.
authors.forename: Xiu-Yu
authors.initials: XY
authors.lastname: Shi
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Zou
authors.forename: Guang
authors.initials: G
authors.lastname: Yang
authors.forename: Ying-Xue
authors.initials: YX
authors.lastname: Ding
authors.forename: Bing
authors.initials: B
authors.lastname: He
authors.forename: Yan-Hong
authors.initials: YH
authors.lastname: Sun
authors.forename: Fei-Yong
authors.initials: FY
authors.lastname: Jia
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use*; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*; D013036:Spasms, Infantile / Q000188:drug therapy* / Q000235:genetics*
chemical_list: D050486:Serotonin Plasma Membrane Transport Proteins; D000324:Adrenocorticotropic Hormone