Large Questionnaire Survey on Sleep Duration and Insomnia Using the TV Hybridcast System by Japan Broadcasting Corporation (NHK).

Background:Japanese people are known to have the shortest sleep duration in the world. To date, no study has assessed a large Japanese population for insomnia and sleep duration.Methods:We performed an Ιnternet-based survey in association with a national television (TV) program. Questionnaire data were collected not only through personal computers, tablets, and smartphones, but also through the Hybridcast system, which combines broadcasts over airwaves with broadband data provided via the Internet using the TV remote controller. The Athens Insomnia Scale (AIS) was used to assess insomnia.Results:A total of 301,241 subjects participated in the survey. Participants slept for an average of 5.96 ± 1.13 h; the average AIS score was 6.82 ± 3.69. A total of 26.1% of male and 27.1% of female participants had both insomnia (AIS ≥ 6) and short sleep duration (<6 h). Responses were recorded through the Hybridcast system for 76.4% of the elderly (age ≥ 65 years) subjects and through personal computers, tablets, or smartphones for 59.9–82.7% of the younger subjects (age ≤ 65 years).Conclusions:Almost a quarter of the Japanese participants presented short sleep duration and insomnia. Furthermore, the Hybridcast system may be useful for performing large internet-based surveys, especially for elderly individuals

The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force

「コロナ制圧タスクフォース」COVID-19患者由来の血液細胞における遺伝子発現の網羅的解析 --重症度に応じた遺伝子発現の変化には、ヒトゲノム配列の個人差が影響する--. 京都大学プレスリリース. 2022-08-23.Coronavirus disease 2019 (COVID-19) is a recently-emerged infectious disease that has caused millions of deaths, where comprehensive understanding of disease mechanisms is still unestablished. In particular, studies of gene expression dynamics and regulation landscape in COVID-19 infected individuals are limited. Here, we report on a thorough analysis of whole blood RNA-seq data from 465 genotyped samples from the Japan COVID-19 Task Force, including 359 severe and 106 non-severe COVID-19 cases. We discover 1169 putative causal expression quantitative trait loci (eQTLs) including 34 possible colocalizations with biobank fine-mapping results of hematopoietic traits in a Japanese population, 1549 putative causal splice QTLs (sQTLs; e.g. two independent sQTLs at TOR1AIP1), as well as biologically interpretable trans-eQTL examples (e.g., REST and STING1), all fine-mapped at single variant resolution. We perform differential gene expression analysis to elucidate 198 genes with increased expression in severe COVID-19 cases and enriched for innate immune-related functions. Finally, we evaluate the limited but non-zero effect of COVID-19 phenotype on eQTL discovery, and highlight the presence of COVID-19 severity-interaction eQTLs (ieQTLs; e.g., CLEC4C and MYBL2). Our study provides a comprehensive catalog of whole blood regulatory variants in Japanese, as well as a reference for transcriptional landscapes in response to COVID-19 infection

Paradox of schizophrenia genetics: is a paradigm shift occurring?

Abstract Background Genetic research of schizophrenia (SCZ) based on the nuclear genome model (NGM) has been one of the most active areas in psychiatry for the past two decades. Although this effort is ongoing, the current situation of the molecular genetics of SCZ seems disappointing or rather perplexing. Furthermore, a prominent discrepancy between persistence of the disease at a relatively high prevalence and a low reproductive fitness of patients creates a paradox. Heterozygote advantage works to sustain the frequency of a putative susceptibility gene in the mitochondrial genome model (MGM) but not in the NGM. Methods We deduced a criterion that every nuclear susceptibility gene for SCZ should fulfill for the persistence of the disease under general assumptions of the multifactorial threshold model. SCZ-associated variants listed in the top 45 in the SZGene Database (the version of the 23rd December, 2011) were selected, and the distribution of the genes that could meet or do not meet the criterion was surveyed. Results 19 SCZ-associated variants that do not meet the criterion are located outside the regions where the SCZ-associated variants that could meet the criterion are located. Since a SCZ-associated variant that does not meet the criterion cannot be a susceptibility gene, but instead must be a protective gene, it should be linked to a susceptibility gene in the NGM, which is contrary to these results. On the other hand, every protective gene on any chromosome can be associated with SCZ in the MGM. Based on the MGM we propose a new hypothesis that assumes brain-specific antioxidant defenses in which trans-synaptic activations of dopamine- and N-methyl-d-aspartate-receptors are involved. Most of the ten predictions of this hypothesis seem to accord with the major epidemiological facts and the results of association studies to date. Conclusion The central paradox of SCZ genetics and the results of association studies to date argue against the NGM, and in its place the MGM is emerging as a viable option to account for genomic and pathophysiological research findings involving SCZ.</p

Large Questionnaire Survey on Sleep Duration and Insomnia Using the TV Hybridcast System by Japan Broadcasting Corporation (NHK)

Background: Japanese people are known to have the shortest sleep duration in the world. To date, no study has assessed a large Japanese population for insomnia and sleep duration. Methods: We performed an Ιnternet-based survey in association with a national television (TV) program. Questionnaire data were collected not only through personal computers, tablets, and smartphones, but also through the Hybridcast system, which combines broadcasts over airwaves with broadband data provided via the Internet using the TV remote controller. The Athens Insomnia Scale (AIS) was used to assess insomnia. Results: A total of 301,241 subjects participated in the survey. Participants slept for an average of 5.96 ± 1.13 h; the average AIS score was 6.82 ± 3.69. A total of 26.1% of male and 27.1% of female participants had both insomnia (AIS ≥ 6) and short sleep duration (&lt;6 h). Responses were recorded through the Hybridcast system for 76.4% of the elderly (age ≥ 65 years) subjects and through personal computers, tablets, or smartphones for 59.9–82.7% of the younger subjects (age ≤ 65 years). Conclusions: Almost a quarter of the Japanese participants presented short sleep duration and insomnia. Furthermore, the Hybridcast system may be useful for performing large internet-based surveys, especially for elderly individuals