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Genome-wide association study reveals novel genetic locus associated with intra-individual variability in response time.

ABSTRACT: Intra-individual response time variability (IIRTV) is proposed as a viable endophenotype for many psychiatric disorders, particularly attention-deficit hyperactivity disorder (ADHD). Here we assessed whether IIRTV was associated with common DNA variation genome-wide and whether IIRTV mediated the relationship between any associated loci and self-reported ADHD symptoms. A final data set from 857 Australian young adults (489 females and 368 males; Mage?=?22.14 years, SDage?=?4.82 years) who completed five response time tasks and self-reported symptoms of ADHD using the Conners' Adult ADHD Rating Scale was used. Principal components analysis (PCA) on these response time measures (standard deviation of reaction times and the intra-individual coefficient of variation) produced two variability factors (labelled response selection and selective attention). To understand the genetic drivers of IIRTV we performed a genome-wide association analysis (GWAS) on these PCA-derived indices of IIRTV. For the selective attention variability factor, we identified one single-nucleotide polymorphism (SNP) attaining genome-wide significance; rs62182100 in the HDAC4 gene located on chromosome 2q37. A bootstrapping mediation analysis demonstrated that the selective attention variability factor mediated the relationship between rs62182100 and self-reported ADHD symptoms. Our findings provide the first evidence of a genome-wide significant SNP association with IIRTV and support the potential utility of IIRTV as a valid endophenotype for ADHD symptoms. However, limitations of this study suggest that these observations should be interpreted with caution until replication samples become available.

SUBMITTER: Pinar A

PROVIDER: S-EPMC6172232 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

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Genome-wide association study reveals novel genetic locus associated with intra-individual variability in response time.

Pinar Ari A Hawi Ziarih Z Cummins Tarrant T Johnson Beth B Pauper Marc M Tong Janette J Tiego Jeggan J Finlay Amy A Klein Marieke M Franke Barbara B Fornito Alex A Bellgrove Mark A MA

Translational psychiatry 20181004 1

Intra-individual response time variability (IIRTV) is proposed as a viable endophenotype for many psychiatric disorders, particularly attention-deficit hyperactivity disorder (ADHD). Here we assessed whether IIRTV was associated with common DNA variation genome-wide and whether IIRTV mediated the relationship between any associated loci and self-reported ADHD symptoms. A final data set from 857 Australian young adults (489 females and 368 males; M<sub>age</sub> = 22.14 years, SD<sub>age</sub> = ...[more]

PMID: 30287865

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Project description:The variability of electromyographic (EMG) recordings between and within participants is a complex problem, rarely studied in swimming. The importance of signal normalization has long been recognized, but the method used might influence variability. The aims of this study were to: (i) assess the intra-individual variability of the EMG signal in highly skilled front crawl swimmers, (ii) determine the influence of two methods of both amplitude and time normalization of the EMG signal on intra-individual variability and of time normalization on muscle activity level and (iii) describe the muscle activity, normalized using MVIC, in relation to upper limb crawl stroke movements. Muscle activity of rectus abdominis and deltoideus medialis was recorded using wireless surface EMG in 15 adult male competitive swimmers during three trials of 12.5 m front crawl at maximal speed without breathing. Two full upper limb cycles were analyzed from each of the swimming trials, resulting in six full cycles used for the intra-individual variability assessment, quantified with the coefficient of variation (CV), coefficient of quartile variation (CQV) and the variance ratio (VR). The results of this study support previous findings on EMG patterns of deltoideus medialis and rectus abdominis as prime mover during the recovery (45% activity relative to MVIC), and stabilizer of the trunk during the pull (14.5% activity) respectively. The intra-individual variability was lower (VR of 0.34-0.47) when compared to other cyclic movements. No meaningful differences were found between variability measures CV or VR when applying either of the amplitude or the time normalization methods. In addition to reporting the mean amplitude and standard deviation, future EMG studies in swimming should also report the intra-individual variability, preferably using VR as it is independent of peak amplitude, provides a good measure of repeatability and is insensitive to mean EMG amplitude and the degree of smoothing applied.

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Genome-wide association study reveals novel genetic locus associated with intra-individual variability in response time.

Publications

Genome-wide association study reveals novel genetic locus associated with intra-individual variability in response time.

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