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Sperm DNA methylation epimutation biomarker for paternal offspring autism

75 点作者 johntfella将近 4 年前

8 条评论

skissane将近 4 年前
Two samples each with n = 13.<p>ASD is widely acknowledged to be a highly heterogeneous condition which is likely to have multiple independent causes, and which has unclear boundaries with other diagnoses (especially ADHD)<p>So a study which effectively treats ASD as a single undifferentiated condition, and has rather small sample sizes too, I think should be treated with a great deal of scepticism.
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h0l0cube将近 4 年前
For some this opinion might be contentious&#x2F;taboo, but mild autism is prevalent across much of the skilled labor pool in STEM - and I count myself within that statistic. So it&#x27;ll be interesting in a couple of generations what might happen to this labor pool if the potential to screen for the broad autism phenotype affects who is born and&#x2F;or affects sexual selection.
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seanhandley将近 4 年前
&gt; Autism spectrum disorder (ASD) has increased over tenfold over the past several decades<p>That should be &quot;Diagnosis of ASD has increased tenfold...&quot; because of a heap of factors including the medical criteria of diagnosis changing, a historical underdiagnosis of autism in girls and women, and improved public knowledge of the condition leading to more assessments and diagnoses.<p>EDIT:<p>Towards the end, it says<p>&gt; The frequency of autism in the population has dramatically increased over tenfold the past several decades. This increase appears to be due in part to increased diagnosis efficiency from 1975 to the early 2000s, as well as greater public awareness of the disease [3]. The more recent increase in the last couple of decades suggests environmental factors, and exposures also have a critical role in autism prevalence.
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fallingfrog将近 4 年前
“One of the control samples, IVI 14, had a very high sperm count of 396.62 million that was outside two standard deviations of the mean (2 ± SD), so the analysis was redone without this sample.”<p>Yeah having chuck norris in your study is going to skew any set of results.
TeeMassive将近 4 年前
&gt; Methods and results<p>&gt; Sperm samples were obtained from fathers that have children with or without autism, and the sperm then assessed for alterations in DNA methylation. A genome-wide analysis (&gt; 90%) for differential DNA methylation regions (DMRs) was used to identify DMRs in the sperm of fathers (n = 13) with autistic children in comparison with those (n = 13) without ASD children. The 805 DMR genomic features such as chromosomal location, CpG density and length of the DMRs were characterized. Genes associated with the DMRs were identified and found to be linked to previously known ASD genes, as well as other neurobiology-related genes. The potential sperm DMR biomarkers&#x2F;diagnostic was validated with blinded test sets (n = 8–10) of individuals with an approximately 90% accuracy.<p>This has to be a preliminary study right? I mean n=13...
pvaldes将近 4 年前
Trying to reconstruct the title<p>Found a mutation in spermatozoa that can be used as a flag for higher probability of having autistic children. Correct?
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dvfjsdhgfv将近 4 年前
Does anyone know of a similar study but involving mothers instead of fathers?
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johntfella将近 4 年前
Full title: Sperm DNA methylation epimutation biomarker for paternal offspring autism susceptibility