5-HT2A receptor gene polymorphisms in Croatian subjects with autistic disorder

Association of 5-HT2A receptor gene polymorphisms with gastrointestinal disorders in Egyptian children with autistic disorder

“…In agreement with Hranilovic et al (2010), our study revealed the presence of significant increase of the GG genotype and the G allele of the -1438A/G polymorphism in children with autism, which might indicate the involvement of the -1438A/G locus in the development of ASD in Egyptian children. Previous studies reported that G allele associated with decrease in 5-HT2A receptor expression (Myers, Airey, Manier, Shelton, & Sanders-Bush, 2007;Parsons, D'Souza, Arranz, Kerwin, & Makoff, 2004).…”

Serotonin mediated immunoregulation and neural functions: Complicity in the aetiology of autism spectrum disorders

“…The underlying mechanism for hyperserotonemia is investigated through genetic studies, mainly restricting to key regulators of 5-HT homeostasis such as tryptophan hydroxylase (TPH), 5-HT transporter (SERT), 5-HT 2A receptor and monoamine oxidases (MAO). Association studies using genes encoding proteins that regulate 5-HT levels and its activity are examined to identify genetic variants conferring susceptibility to ASD (Cohen et al, 2011;Conroy et al, 2004;Cook et al, 1997;Hranilovic et al, 2010;Kim et al, 2002;Yang et al, 2012), but inconsistent results on association made it difficult to accurately nail down an isolated gene or a group of genetic markers (Coutinho et al, 2004;Guhathakurta et al, 2006Guhathakurta et al, , 2008Jaiswal et al, 2015;Tassone et al, 2011;Verma et al, 2014). In addition to genetic analyses, researchers have used theoretical models to investigate the hyperserotonemia in autism (Anderson et al, 1987a;Janusonis, 2008).…”

“…In vitro studies have shown that the markers such as −1438 A/G SNP (rs6311) and 102T/C (rs6313) regulate the transcriptional efficiency of the gene (Parsons et al, 2004;Polesskaya and Sokolov, 2002;Myers et al, 2007). Case-control studies involving −1438 A/G polymorphism have demonstrated overrepresentation of G allele in the autistic than in the control group (Abdelrahman et al, 2014;Hranilovic et al, 2010). Family based study conducted by Smith et al (2014) also suggested significant under-transmission of minor A allele to offspring with ASD.…”

Study of polymorphic variants of the serotonin 2A receptor gene (5-HT2A) and its possible effects on smoking habits of a population from northeastern Brazil

“…This gene has two known functional single nucleotide polymorphisms (SNPs), T102C (rs6313) and A-1438G (rs6311), which were related to smoking habit (do Prado-Lima et al, 2004, Polina et al, 2009). The -1438A-G polymorphism is located in the promoter region and is in moderate linkage disequilibrium (LD) with the T102C polymorphism in the first exon (Saiz et al, 2009;Choi et al, 2010;Hranilovic et al, 2010). Previous studies have shown that the -1438G allele results in a decrease in promoter activity, whereas the 102C allele also determines gene expression changes resulting in decreased synthesis of 5-HT2A receptors (do Prado-Lima et al, 2004;Kim et al, 2008;Hranilovic et al, 2010).…”