Lipid and sterol gene sequence variation in autism and correlates with neurodevelopmental status: A pilot study

Hall, Trevor A.; Steiner, Robert D.; Wright, Hollis; Wilmot, Beth; Roullet, Jean Baptiste; Peters, M.; Harris, Michael A.

doi:10.1016/j.nhtm.2015.09.001

Cited by 2 publications

(1 citation statement)

References 41 publications

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“…Furthermore, behaviors and characteristics common among people with autism (eg, food selectivity, physical limitations, sedentary behavior, and sleep disturbances) and medications intended to improve challenging behaviors (eg, atypical antipsychotics) could be mediating or moderating the association between autism and cardiometabolic disease. In addition, a few risk factors contributing to dyslipidemia in autism have been documented, including variations in genes NPC1 and DHCR24 associated with cholesterol metabolism, altered proteins involved in lipid transport (eg, apolipoprotein B100) and metabolism pathways, and increased lipoprotein lipase activity . Unfortunately, the associations between these factors and cardiometabolic disease in autism could not be determined in meta-regression analyses as these variables were not reported in most included studies.…”

Section: Discussionmentioning

confidence: 99%

Association Between Autism Spectrum Disorders and Cardiometabolic Diseases

et al. 2023

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ImportanceAlthough the increased risk of obesity among individuals with autism has been well established, evidence on the association between autism, cardiometabolic disorders, and obesity remains inconclusive.ObjectiveTo examine the association between autism spectrum disorders and cardiometabolic diseases in a systematic review and meta-analysis.Data SourcesPubMed, Scopus, Web of Science, ProQuest, Embase, and Ovid databases were searched from inception through July 31, 2022, without restrictions on date of publication or language.Study SelectionObservational or baseline data of interventional studies reporting the prevalence of cardiometabolic risk factors (ie, diabetes, hypertension, dyslipidemia, atherosclerotic macrovascular disease) among children and/or adults with autism and matched with participants without autism were included.Data Extraction and SynthesisScreening, data extraction, and quality assessment were performed independently by at least 2 researchers. DerSimonian-Laird random-effects meta-analyses were performed using the meta package in R.Main Outcomes and MeasuresRelative risks (RRs) of diabetes, hypertension, dyslipidemia, and atherosclerotic macrovascular disease among individuals with autism were the primary outcomes. Secondary outcomes included the RR of type 1 and type 2 diabetes, heart disease, stroke, and peripheral vascular disease.ResultsA total of 34 studies were evaluated and included 276 173 participants with autism and 7 733 306 participants without autism (mean [range] age, 31.2 [3.8-72.8] years; pooled proportion [range] of female individuals, 47% [0-66%]). Autism was associated with greater risks of developing diabetes overall (RR, 1.57; 95% CI, 1.23-2.01; 20 studies), type 1 diabetes (RR, 1.64; 95% CI, 1.06-2.54; 6 studies), and type 2 diabetes (RR, 2.47; 95% CI, 1.30-4.70; 3 studies). Autism was also associated with increased risks of dyslipidemia (RR, 1.69; 95% CI, 1.20-2.40; 7 studies) and heart disease (RR, 1.46; 95% CI, 1.42-1.50; 3 studies). Yet, there was no significantly associated increased risk of hypertension and stroke with autism (RR, 1.22; 95% CI, 0.98-1.52; 12 studies; and RR, 1.19; 95% CI, 0.63-2.24; 4 studies, respectively). Meta-regression analyses revealed that children with autism were at a greater associated risk of developing diabetes and hypertension compared with adults. High between-study heterogeneity was a concern for several meta-analyses.Conclusions and RelevanceResults suggest that the associated increased risk of cardiometabolic diseases should prompt clinicians to vigilantly monitor individuals with autism for potential contributors, signs of cardiometabolic disease, and their complications.

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Section: Discussionmentioning

confidence: 99%

Association Between Autism Spectrum Disorders and Cardiometabolic Diseases

et al. 2023

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Integrated SMRT Technology with UMI RNA-Seq Reveals the Hub Genes in Stamen Petalody in Camellia oleifera

Yang

Gao

et al. 2021

Forests

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Male sterility caused by stamen petalody is a key factor for a low fruit set rate and a low yield of Camellia oleifera but can serve as a useful genetic tool because it eliminates the need for artificial emasculation. However, its molecular regulation mechanism still remains unclear. In this study, transcriptome was sequenced and analyzed on two types of bud materials, stamen petalody mutants and normal materials, at six stages of stamen development based on integrated single-molecule real-time (SMRT) technology with unique molecular identifiers (UMI) and RNA-seq technology to identify the hub genes responsible for stamen petalody in C. oleifera. The results show that a large number of alternative splicing events were identified in the transcriptome. A co-expression network analysis of MADSs and all the differentially expressed genes between the mutant stamens and the normal materials showed that four MADS transcription factor genes, CoSEP3.1, CoAGL6, CoSEP3.2, and CoAP3, were predicted to be the hub genes responsible for stamen petalody. Among these four, the expression patterns of CoAGL6 and CoSEP3.2 were consistently high in the mutant samples, but relatively low in the normal samples at six stages, while the patterns of CoSEP3.1 and CoAP3 were initially low in mutants and then were upregulated during development but remained relatively high in the normal materials. Furthermore, the genes with high connectivity to the hub genes showed significantly different expression patterns between the mutant stamens and the normal materials at different stages. qRT-PCR results showed a similar expression pattern of the hub genes in the RNA-seq. These results lay a solid foundation for the directive breeding of C. oleifera varieties and provide references for the genetic breeding of ornamental Camellia varieties.

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Lipid and sterol gene sequence variation in autism and correlates with neurodevelopmental status: A pilot study

Cited by 2 publications

References 41 publications

Association Between Autism Spectrum Disorders and Cardiometabolic Diseases

Association Between Autism Spectrum Disorders and Cardiometabolic Diseases

Integrated SMRT Technology with UMI RNA-Seq Reveals the Hub Genes in Stamen Petalody in Camellia oleifera

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