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Aim: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes. Methods: We analyzed WGS data of 634 ASD families and performed genome‐wide evaluation for 12,929 STR loci. We found rare STR expansions that exceeded normal repeat lengths in autism cases compared to unaffected controls. By integrating single cell RNA and ATAC sequencing datasets of human postmortem brains, we prioritized STR loci in genes specifically expressed in cortical development stages. A deep learning method was used to predict functionality of ASD‐associated STR loci. Results: In ASD cases, rare STR expansions predominantly occurred in early cortical layer‐specific genes involved in neurodevelopment, highlighting the cellular specificity of STR‐associated genes in ASD risk. Leveraging deep learning prediction models, we demonstrated that these STR expansions disrupted the regulatory activity of enhancers and promoters, suggesting a potential mechanism through which they contribute to ASD pathogenesis. We found that individuals with ASD‐associated STR expansions exhibited more severe ASD phenotypes and diminished adaptability compared to non‐carriers. Conclusion: Short tandem repeat expansions in cortical layer‐specific genes are associated with ASD and could potentially be a risk genetic factor for ASD. Our study is the first to show evidence of STR expansion associated with ASD in an under‐investigated population. [ABSTRACT FROM AUTHOR]

Complementary graphene‐barristor‐based inverters using n‐type ZnO:N and p‐type dinaphtho‐[2,3‐b:2′,3′‐f]thieno[3,2‐b]thiophene semiconductor layers are fabricated at a maximum process temperature lower than 200 °C. The devices display on/off ratios greater than 104. The transmittance of the device stack is higher than 80% at wavelengths larger than 470 nm. The complementary graphene‐barristor inverter exhibits a high gain (>8 at VDD = 2 V) by using a back‐gate structure, which allows for aggressive gate‐dielectric scaling. The potential performance of the inverter, as projected using experimental device parameters, shows that a very high voltage gain of over 70 and a low switching power consumption of below 10 nW can be achieved at VDD = 2 V and an equivalent oxide thickness of 1 nm. These performances are very promising for thin‐film transistor applications. The feasibility of complementary graphene‐barristor‐based inverters fabricated on a transparent substrate for thin‐film transistor applications is examined. The inverter function is demonstrated with a high gain over 8. The maximum process temperature for the entire device fabrication is lower than 200 °C. These properties are competitive when compared with those of other devices being investigated for future display‐driver circuit applications. [ABSTRACT FROM AUTHOR]

Background: The relationship between depression and subclinical coronary atherosclerosis in asymptomatic individuals is not clear. We evaluated this relationship in a Korean population., Methods and Results: We analyzed 3920 individuals (mean age 54.7±7.9 years and 2603 men [66.4%]) with no history of coronary artery disease who voluntarily underwent coronary computed tomographic angiography and screening for depression using the Beck Depression Inventory as part of a general health examination. The degree and extent of subclinical coronary atherosclerosis were evaluated by coronary computed tomographic angiography, and ≥50% diameter stenosis was defined as significant. Participants were categorized into groups of those with or without depression using the Beck Depression Inventory scores ≥16 as a cutoff value. Of the study participants, 272 (6.9%) had a Beck Depression Inventory score of 16 or higher. After adjustment for cardiovascular risk factors, depression was not significantly associated with any coronary plaque (adjusted odds ratio [OR], 1.05 [95% CI, 0.78-1.41]; P =0.746), calcified plaque (OR, 0.95 [95% CI, 0.71-1.29]; P =0.758), noncalcified plaque (OR, 1.31 [95% CI, 0.79-2.17]; P =0.305), mixed plaque (OR, 1.16 [95% CI, 0.60-2.23]; P =0.659), or significant coronary artery stenosis (OR, 1.22 [95% CI, 0.73-2.03]; P =0.450). In the propensity score-matched population (n=1318) as well, none of the coronary artery disease measures of subclinical coronary atherosclerosis were statistically significantly associated with depression (all P >0.05)., Conclusions: In this large cross-sectional study with asymptomatic individuals undergoing coronary computed tomographic angiography and Beck Depression Inventory evaluation, depression was not associated with an increased risk of subclinical coronary atherosclerosis.

Background Data are limited on the association between marital status and subclinical coronary atherosclerosis. This study investigated the influence of marital status on subclinical coronary atherosclerosis detected by coronary computed tomographic angiography in an asymptomatic population. Methods and Results This retrospective study analyzed 9288 asymptomatic individuals (mean age, 53.7±8.0 years; 6041 [65%] men) with no history of coronary artery disease who voluntarily underwent coronary computed tomographic angiography during a general health examination. Marital categories were married (n=8481) versus unmarried (n=807), comprising never married (n=195), divorced (n=183), separated (n=119), and widowed (n=310) individuals. The degree and extent of subclinical coronary atherosclerosis were evaluated by coronary computed tomographic angiography; ≥50% diameter stenosis was defined as significant. Logistic regression and propensity score matching analyses were used to determine the association between marital status and subclinical coronary atherosclerosis. After adjustment for cardiovascular risk factors, no significant differences were observed in the adjusted odds ratio (OR) of unmarried status for any coronary plaque (OR, 1.077; 95% CI, 0.899-1.291), calcified plaque (OR, 1.058; 95% CI, 0.881-1.271), noncalcified plaque (OR, 0.966; 95% CI, 0.691-1.351), mixed plaque (OR, 1.301; 95% CI, 0.884-1.917), and significant coronary artery stenosis (OR, 1.066; 95% CI, 0.771-1.474). Similarly, in the 2:1 propensity-score matched population (n=2398), no statistically significant differences were observed for the OR of marital status for any subclinical coronary atherosclerosis ( P >0.05 for all). Conclusions In this large cross-sectional study, marital status was not associated with an increased risk of subclinical coronary atherosclerosis.