5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals

Arieff, Zainunisha; Kaur, Mandeep; Gameeldien, Hajirah; Merwe, Lize van der; Bajic, Vladimir B.

doi:10.3378/027.082.0303

Cited by 24 publications

(27 citation statements)

References 31 publications

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“…Several have identified the S allele with ASD [25, 29, 64, 65] while others associated the L allele with ASD [32, 66, 67] or found no association at all [68–71]. Our results rather support the first group.…”

Section: Discussionsupporting

confidence: 51%

Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism

et al. 2014

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BackgroundAutism spectrum disorder (ASD) is heritable and neurodevelopmental with unknown causes. The serotonergic and oxytocinergic systems are of interest in autism for several reasons: (i) Both systems are implicated in social behavior, and abnormal levels of serotonin and oxytocin have been found in people with ASD; (ii) treatment with selective serotonin reuptake inhibitors and oxytocin can yield improvements; and (iii) previous association studies have linked the serotonin transporter (SERT; SLC6A4), serotonin receptor 2A (HTR2A), and oxytocin receptor (OXTR) genes with ASD. We examined their association with high functioning autism (HFA) including siblings and their interaction.MethodsIn this association study with HFA children (IQ > 80), siblings, and controls, participants were genotyped for four single nucleotide polymorphisms (SNPs) in OXTR (rs2301261, rs53576, rs2254298, rs2268494) and one in HTR2A (rs6311) as well as the triallelic HTTLPR (SERT polymorphism).ResultsWe identified a nominal significant association with HFA for the HTTLPR s allele (consisting of S and LG alleles) (p = .040; odds ratio (OR) = 1.697, 95% CI 1.191–2.204)). Four polymorphisms (HTTLPR, HTR2A rs6311, OXTR rs2254298 and rs53576) in combination conferred nominal significant risk for HFA with a genetic score of ≥4 (OR = 2.09, 95% CI 1.05–4.18, p = .037). The resulting area under the receiver operating characteristic curve was 0.595 (p = .033).ConclusionsOur findings, combined with those of previous reports, indicate that ASD, in particular HFA, is polygenetic rather than monogenetic and involves the serotonergic and oxytocin pathways, probably in combination with other factors.Electronic supplementary materialThe online version of this article (doi:10.1186/2049-9256-2-1) contains supplementary material, which is available to authorized users.

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Section: Discussionsupporting

confidence: 51%

Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism

et al. 2014

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“…Infectious diseases such as falciparum malaria have been suggested as possible antecedents to ASD [11], but the association has not been established. Of the six studies identified in this category, 4 explored possible genetic and biomedical factors [11, 20–22]. Three of the studies looked at potential genetic markers, the ones by Ezegwui et al [20], Sharma et al [21], and Arieff et al [22].…”

Section: Resultsmentioning

confidence: 99%

A Systematic Review of Research on Autism Spectrum Disorders in Sub-Saharan Africa

Abubakar

Ssewanyana

Newton

2016

Behavioural Neurology

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The burden of autism spectrum disorders (ASDs) in sub-Saharan Africa (SSA) is not well known. We carried out a systematic review of the literature to identify published work from SSA. We have systematically searched four databases, namely, Medline, PsycINFO, CINAHL, and Child Development & Adolescent Studies, through EBSCO and identified studies from across SSA. Based on predefined inclusion criteria, 47 studies were included in this review. Most of the identified studies (74%) were conducted in only 2 African countries, that is, South Africa and Nigeria. Additionally, most of these studies (83%) were carried out in the last decade. These studies had four major themes: development of measurement tools of ASD in Africa, examining the prevalence of ASD, identifying risk factors and risk markers, and examining psychosocial issues. We identified only a single population level study aimed at documenting the prevalence of ASD and could not identify a single case-control study aimed at examining a comprehensive set of potential risk factors. All intervention studies were based on very small sample sizes. Put together, our findings suggest that current evidence base is too scanty to provide the required information to plan adequately for effective intervention strategies for children with ASD in Africa.

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“…El alelo de la deleción ya ha sido previamente asociado con autismo en estudios realizados en diferentes poblaciones (39)(40)(41)(42). Sin embargo, los hallazgos no han sido constantes, pues otros estudios han reportado el alelo L como de riesgo para autismo en poblaciones de Alemania, Israel y Portugal (10,24,86).…”

Section: Discussionunclassified

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

et al. 2012

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5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals

Cited by 24 publications

References 31 publications

Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism

Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism

A Systematic Review of Research on Autism Spectrum Disorders in Sub-Saharan Africa

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

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