Serotonin transporter promoter variants: Analysis in Indian autistic and control population

5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals

“…In one report based on Sardinian children, 5-HTTLPR polymorphism was not linked with autistic spectrum disorders (Guerini et al 2006). Similar results were observed in Indian autistic individuals, where no association with 5-HTTLPR was found based on case-control studies and family-based approaches (Guhathakurta et al 2006). The selective transmission of both L and S alleles has been observed in family studies related to autism (Devlin et al 2005) and certainly warrants further investigation in different ethnic groups and populations.…”

“…Studies performed on various autistic populations, such as French, Israeli, Japanese, Koreans, and Indians, found different L and S allele frequencies in these groups (Guhathakurta et al 2006;Koishi et al 2006;Tordjman et al 2001;Yirmiya et al 2001). A French study of autistic individuals found a high L allele frequency (61%), the Israeli individuals had equal S and L allele frequencies, and the autistic Japanese, Korean, and Indian individuals had a much higher S allele frequency (74%, 71%, and 63%, respectively).…”

“…It is 31 kb long, consists of 14 exons, and codes for 630 amino acid proteins (Bartlett et al 2005). Four different polymorphisms of this gene have been reported: (1) a 44-bp insertion/deletion polymorphism in the promoter region, also referred to as 5-HTTLPR; (2) a 380-bp deletion just before the start codon; (3) a 17-bp variable number of tandem repeats in intron 2; and (4) a single nucleotide polymorphism in the 5 untranslated region (Bartlett et al 2005;Guhathakurta et al 2006;Murphy et al 2004). The promoter polymorphisms-the long (L), short (S), and small number of rare alleles-of the SERT gene have been extensively studied and are known to modulate its expression.…”

Autoimmune Disorder and Autism

“…In contrast to these positive reports, 9 family-based studies failed to find evidence for associations of the SLC6A4 polymorphism with autism [130,[132][133][134][136][137][138][139][140], as well as a case-control study [128]. An Indian group performed a series of studies but found no persuasive evidence of the association of the SLC6A4 polymorphisms with autism [129,135,217]. In addition, a systematic review and meta-analysis failed to find a significant overall association of the serotonin polymorphisms examined and autism [131].…”

Evidencia de asociación entre el gen SLC6A4 y efectos epistáticos con variantes en HTR2A en la etiología del autismo en población antioqueña

“…La serotonina (5-hidroxitriptamina) es un neurotransmisor monoamina, involucrado en la regulación de funciones biológicas como el comportamiento emocional, el sueño, la sensibilidad al dolor y la liberación de hormonas, y juega un papel crucial en la sinaptogénesis y el neurodesarrollo (10,11).…”