Serotonin transporter gene promoter polymorphism and autism: A family-based genetic association study in Japanese population

Koishi, Shinko; Yamamoto, Kenji; Matsumoto, Hideo; Koishi, Seiji; Enseki, Youichi; Oya, Akitoshi; Asakura, Arata; Aoki, Yukari; Atsumi, Mariko; Iga, Tomiei; Inomata, Jyoji; Inoko, Hidetoshi; Sasaki, Tsukasa; Nanba, Eiji; Kato, Nobuo; Ishii, Tetsuo; Yamazaki, Kosuke

doi:10.1016/j.braindev.2005.09.003

Cited by 29 publications

(25 citation statements)

References 18 publications

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“…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).…”

Section: -Httlpr Polymorphism / 293mentioning

confidence: 99%

5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals

et al. 2010

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Section: -Httlpr Polymorphism / 293mentioning

confidence: 99%

5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals

et al. 2010

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“…234,235 Some studies did not replicate these findings. 214,[236][237][238][239][240][241][242][243] Three studies have assessed the effects of the 5HTTLPR on whole-blood serotonin (5-HT) or platelet 5-HT parameters in AD. 236,237,244 One study 244 did find an increased rate of platelet-5-HT uptake in II genotypes compared to sl and ss.…”

Section: Chromosome 17mentioning

confidence: 99%

The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

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“…Furthermore, an extensive study of CNVs in autistic individuals has identified PI3K/mTOR pathway-related genes as 'hotspots' for CNVs in autism (Cusco et al, 2009). Moreover, several neurotransmitter-coupled pathways that have been linked to ASDs also regulate PI3K/mTOR activity, such as GABA-, BDNF-, and serotonindependent signaling (Koishi et al, 2006;Eagleson et al, 2010;Sheikh et al, 2010). Of note, a major cellular function of PI3K/mTOR signaling is the regulation of protein synthesis, which was suggested to be defective in many ASDs (Kelleher and Bear, 2008).…”

Section: Increased and Protein Synthesis-independent Mglu 1/5 Ltd In Fxsmentioning

confidence: 99%

Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond

Groß

Berry‐Kravis

Bassell

2011

Neuropsychopharmacol

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Fragile X syndrome (FXS) is an inherited neurodevelopmental disease caused by loss of function of the fragile X mental retardation protein (FMRP). In the absence of FMRP, signaling through group 1 metabotropic glutamate receptors is elevated and insensitive to stimulation, which may underlie many of the neurological and neuropsychiatric features of FXS. Treatment of FXS animal models with negative allosteric modulators of these receptors and preliminary clinical trials in human patients support the hypothesis that metabotropic glutamate receptor signaling is a valuable therapeutic target in FXS. However, recent research has also shown that FMRP may regulate diverse aspects of neuronal signaling downstream of several cell surface receptors, suggesting a possible new route to more direct disease-targeted therapies. Here, we summarize promising recent advances in basic research identifying and testing novel therapeutic strategies in FXS models, and evaluate their potential therapeutic benefits. We provide an overview of recent and ongoing clinical trials motivated by some of these findings, and discuss the challenges for both basic science and clinical applications in the continued development of effective disease mechanism-targeted therapies for FXS.

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Serotonin transporter gene promoter polymorphism and autism: A family-based genetic association study in Japanese population

Cited by 29 publications

References 18 publications

5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals

5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals

The genetics of autistic disorders and its clinical relevance: a review of the literature

Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond

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