Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder (NDD). In this narrative review, we summarize recent advances in quantitative and molecular genetic research from the past 5-10 years. Combined with large-scale international collaboration, these advances have resulted in fast-paced progress in understanding the etiology of ADHD and how genetic risk factors map on to clinical heterogeneity. Studies are converging on a number of key insights. First, ADHD is a highly polygenic NDD with a complex genetic architecture encompassing risk variants across the spectrum of allelic frequencies, which are implicated in neurobiological processes. Second, genetic studies strongly suggest that ADHD diagnosis shares a large proportion of genetic risks with continuously distributed traits of ADHD in the population, with shared genetic risks also seen across development and sex. Third, ADHD genetic risks are shared with those implicated in many other neurodevelopmental, psychiatric and somatic phenotypes. As sample sizes and the diversity of genetic studies continue to increase through international collaborative efforts, we anticipate further success with gene discovery, characterization of how the ADHD phenotype relates to other human traits and growing potential to use genomic risk factors for understanding clinical trajectories and for precision medicine approaches.
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http://dx.doi.org/10.1017/S0033291721000982 | DOI Listing |
Ophthalmic Plast Reconstr Surg
October 2024
Division of Ophthalmology, Children's Hospital of Philadelphia.
Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation or as part of an underlying syndrome. The benefit of genetic assessment in individuals with PA and clinical features that should prompt molecular workup has not been systematically studied. The aim of this study was to identify ocular and extraocular features associated with PA and determine its association with an underlying syndrome.
View Article and Find Full Text PDFProbl Radiac Med Radiobiol
December 2024
State Institution «National Scientific Center for Radiation Medicine, Hematology and Oncology of the National Academy of Medical Sciences of Ukraine», 53 Yuriia Illienka Str., Kyiv, 04050, Ukraine.
Objective: to determine the distribution of genotypes of genetic polymorphism of manganese superoxide dismutaseand to assess the ventilation lung capacity in children- residents of radioactively contaminated areas and childrenexposed to stressful life events during the war period.
Materials And Methods: The study involved school-age children - residents of radioactively contaminated areas(RCA) and children exposed to stressful life events during wartime. All those examined had no clinical signs of respiratory pathology.
Probl Radiac Med Radiobiol
December 2024
State Institution «National Research Center of Radiation Medicine, Hematology and Oncology of the National Academy of Medical Sciences of Ukraine», 53 Yuriia Illienka Str., Kyiv, 04050, Ukraine.
Objective: To establish the level of chromosomal instability in human peripheral blood lymphocytes during thedevelopment of secondary radiation-induced bystander effect.
Materials And Methods: Human peripheral blood lymphocytes; culture of human non-small-cell lung cancer cell lineA549 (irradiated in vitro by 137Cs in a dose of 0.50 Gy/unirradiated).
Hum Reprod
December 2024
Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.
Study Question: Does the risk of childhood cancer following ARTs vary by sex?
Summary Answer: In this registry-based study, some childhood cancers showed positive sex- and age-specific associations in children conceived using certain ART modalities, which were not evident in overall combined analyses.
What Is Known Already: The relationship between ART and risk of childhood cancer has shown diverse outcomes in prior research. Studies examining whether there are sex differences in childhood cancer risk after ART conception are lacking.
J Cancer Res Clin Oncol
December 2024
Department of Respiratory Medicine, The Fuyang Affiliated Hospital of Anhui Medical University, Fuyang, 236000, Anhui, China.
Purpose: This study aims to investigate the biological roles and molecular mechanisms of Cathepsin G (CTSG) in the progression of non-small cell lung cancer (NSCLC).
Methods: Western blotting and immunohistochemistry analyses of clinical samples were performed to determine the expression levels of CTSG in patients with NSCLC. Bioinformatic analysis of clinical datasets was conducted to evaluate the correlation between CTSG and lymph node metastasis, tumor stage, and immune cell infiltration.
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