Associations of endocrine stress‐related gene polymorphisms with risk of autism spectrum disorders: Evidence from an integrated meta‐analysis

Yang, Pengbo; Menga, Ya-jing; Li, Tao; Huang, Yi

doi:10.1002/aur.1822

Cited by 10 publications

(9 citation statements)

References 132 publications

(171 reference statements)

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“…Out of the remaining six articles, two were already in our dataset from the literature search from PubMed. Finally, four articles from the GWAS catalog were manually added to 27 articles previously screened from PubMed, leading to a total of 31 eligible articles [ 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 ] being included in the systematic review ( Figure 1 ).…”

Section: Resultsmentioning

confidence: 99%

Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis

Lee

Son

et al. 2020

Brain Sciences

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This study aimed to verify noteworthy findings between genetic risk factors and autism spectrum disorder (ASD) by employing the false positive report probability (FPRP) and the Bayesian false-discovery probability (BFDP). PubMed and the Genome-Wide Association Studies (GWAS) catalog were searched from inception to 1 August, 2019. We included meta-analyses on genetic factors of ASD of any study design. Overall, twenty-seven meta-analyses articles from literature searches, and four manually added articles from the GWAS catalog were re-analyzed. This showed that five of 31 comparisons for meta-analyses of observational studies, 40 out of 203 comparisons for the GWAS meta-analyses, and 18 out of 20 comparisons for the GWAS catalog, respectively, had noteworthy estimations under both Bayesian approaches. In this study, we found noteworthy genetic comparisons highly related to an increased risk of ASD. Multiple genetic comparisons were shown to be associated with ASD risk; however, genuine associations should be carefully verified and understood.

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Section: Resultsmentioning

confidence: 99%

Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis

Lee

Son

et al. 2020

Brain Sciences

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“…The role of 5-HTTLPR polymorphism in the ASD pathophysiology evaluated through case-control studies and family-based association have reflected conflicting results. For instance, two studies suggested S allele as risk variant for ASD [ 15 , 16 ], while three meta-analysis did not find association [ 26 – 28 ]. We assessed this polymorphism through a case-control approach failing to find association between 5-HTTLPR and idiopathic ASD, and also through a family-based assessment that did not find a preferential transmission of either S or L allele.…”

Section: Discussionmentioning

confidence: 99%

“…Recognizing the under-representation of Latin American population in studies aimed to understand the role of 5-HTTLPR on worldwide [26,27,29], here we present a meta-analysis including articles which evaluate this polymorphism in Latin American individuals with psychiatric disorders as ASD, bipolar disorder, major depressive disorder, obsessive compulsive disorder, attention deficit hyperactive disorder, schizophrenia, dysthymia, anxiety disorder and suicide [37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54]. Although the S allele has been associated with increased risk for psychiatric disorders [16][17][18][19][20][21]55], our meta-analysis revealed no significant heterogeneity among studies, no publication bias and failed to find an association between 5-HTTLPR and a risk for psychiatric disorders.…”

Section: Plos Onementioning

confidence: 99%

“…Despite three meta-analysis suggesting that the short/long alleles are not risk factors for ASD [ 26 – 28 ], the ethnical heterogeneity among included studies has been proposed as a factor that may affect the overall result. A comprehensive transmission disequilibrium test (TDT) meta-analysis including eighteen studies from diverse populations, demonstrated a non-preferential S/L transmission at the global scale, but preferential transmission of the S and L alleles in the American and Asian populations, respectively [ 29 ].…”

Section: Introductionmentioning

confidence: 99%

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The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders

et al. 2020

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The autism spectrum disorder (ASD) is a complex disorder encompassing a broad phenotypic and genotypic variability. The short (S)/long (L) 5-HTTLPR polymorphism has a functional role in the regulation of extracellular serotonin levels and both alleles have been associated to ASD. Most studies including European, American, and Asian populations have suggested an ethnical heterogeneity of this polymorphism; however, the short/long frequencies from Latin American population have been under-studied in recent meta-analysis. Here, we evaluated the 5-HTTLPR polymorphism in Colombian individuals with idiopathic ASD and reported a non-preferential S or L transmission and a non-association with ASD risk or symptom severity. Moreover, to recognize the allelic frequencies of an under-represented population we also recovered genetic studies from Latin American individuals and compared these frequencies with frequencies from other ethnicities. Results from metaanalysis suggest that short/long frequencies in Latin American are similar to those reported in Caucasian population but different to African and Asian regions.

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“…Nevertheless, they reported only two population-based studies and a formal meta-analysis of these studies could not be done. Moreover, Yang et al found 5-HTTLPR polymorphism did not significantly affect ASD risk based on six case-control studies with obvious heterogeneity (22). However, more population-based studies explored the effect of 5-HTTLPR polymorphism on autism risk but the results were still not consistent and remained inconclusive.…”

Section: Introductionmentioning

confidence: 99%

Association Between 5-HTTLPR Polymorphism and the Risk of Autism: A Meta-Analysis Based on Case-Control Studies

et al. 2019

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Background: Recently, many case-control studies have reported the association between 5-HTTLPR polymorphism and autism risk. However, the results are inconclusive and conflicting. To investigate the genetic association of 5-HTTLPR polymorphism and autism risk, we conducted a comprehensive meta-analysis based on previous case-control studies. Methods: Literature search was performed through PubMed, Embase, Web of Knowledge and CNKI databases until June 27, 2018. The strength of the association was assessed by relative risk (RR) and its corresponding 95% confidence interval (CI). Fixed or random effect model was selected based on the results of heterogeneity test. Further, subgroup analyses were conducted to explore the association of 5-HTTLPR polymorphism and autism risk in different population. Results: Eleven studies with 930 cases and 1234 controls were identified. Although there was a significant association between 5-HTTLPR polymorphism and autism risk under the dominant model after removing the studies causing heterogeneity, the significance did not exist after Bonferroni's correction. Subgroup analyses also showed similar results after Bonferroni's correction. In addition, there was no obvious publication bias in our meta-analysis. Conclusions: Our present meta-analysis does not support a direct effect of 5-HTTLPR polymorphism on autism risk according to present results. Further analyses of the effect of genetic networks and more well designed studies with larger sample size are required.

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Associations of endocrine stress‐related gene polymorphisms with risk of autism spectrum disorders: Evidence from an integrated meta‐analysis

Cited by 10 publications

References 132 publications

Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis

Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis

The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders

Association Between 5-HTTLPR Polymorphism and the Risk of Autism: A Meta-Analysis Based on Case-Control Studies

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