Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder
Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder
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DOI：
10.1038/sj/mp/4000923
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发表时间：
2002-01-01
影响因子：
11
通讯作者：
Leboyer, M
中科院分区：
文献类型：
--
作者：
Betancur, C;Corbex, M;Leboyer, M
Previous studies have provided conflicting evidence regarding the association of the serotonin transporter (5-HTT) gene with autism. Two polymorphisms have been identified in the human 5-HTT gene, a VNTR in intron 21 and a functional deletion/insertion in the promoter region (5-HTTLPR) with short and long variants.(2) Positive associations of the 5-HTTLPR polymorphism with autism have been reported by two family-based studies, but one found preferential transmission of the short allele(3) and the other of the long allele.(4) Two subsequent studies failed to find evidence of transmission disequilibrium at the 5-HTTLPR locus.(5,6) These conflicting results could be due to heterogeneity of clinical samples with regard to serotonin (5-HT) blood levels; which have been found to be elevated in some autistic subjects.(7-9) Thus, we examined the association of the 5-HTTLPR and VNTR polymorphisms of the 5-HTT gene with autism, and we investigated the relationship between 5-HTT variants and whole-blood 5-HT. The transmission/disequilibrium test (TDT) revealed no linkage disequilibrium at either loci in a sample of 96 families comprising 43 trios and 53 sib pairs. Furthermore, no significant relationship between 5-HT blood levels and 5-HTT gene polymorphisms was found. Our results suggest that the 5-HTT gene is unlikely to play a major role as a susceptibility factor in autism.
