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        Polymorphism of Estrogen Receptor Genes and Its Interactions With Neurodevelopmental Genes in Attention Deficit Hyperactivity Disorder Among Chinese Han Descent

        Yiwei Lin,Haimei Li,Jing Zhang,Ziqi Yang,Yi Zhou,Lu Liu,Qiujin Qian 대한신경정신의학회 2023 PSYCHIATRY INVESTIGATION Vol.20 No.8

        Objective Attention deficit hyperactivity disorder (ADHD) is a polygenic neurodevelopmental disorder with significant gender differences. The sexual dimorphism of ADHD may be associated with estrogen acting through estrogen receptors (ESR). This study investigates the impact of <i>ESR</i> gene polymorphism and its interactions with neurodevelopmental genes on ADHD susceptibility.Methods The study compared genotyping data of single nucleotide polymorphisms in <i>ESR1</i> and <i>ESR2</i> in 1,035 ADHD cases and 962 controls. The gene-gene interactions between <i>ESR</i> genes and three neurodevelopmental genes (brain-derived neurotrophic factor [<i>BDNF</i>], synaptosomal-associated protein of 25 kDa gene [<i>SNAP25</i>], and cadherin-13 [<i>CDH13<i></i></i>]) in ADHD were investigated using generalized multifactor dimensionality reduction and verified by logistic regression analysis.Results The G allele of rs960070/<i>ESR2</i> (empirical p=0.0076) and the A allele of rs8017441/<i>ESR2</i> (empirical p=0.0426) were found significantly higher in ADHD cases than in the controls but not in male or female subgroups. Though no difference was found in all subjects or females, the A allele of rs9340817/<i>ESR1</i> (empirical p=0.0344) was found significantly higher in ADHD cases than controls in males. We also found genetic interaction models between <i>ESR2</i> gene, neurodevelopmental genes and ADHD susceptibility in males (<i>ESR2</i> rs960070/<i>BDNF</i> rs6265/<i>BDNF</i> rs2049046/<i>SNAP25</i> rs362987/<i>CDH13</i> rs6565113) and females (<i>ESR2<i></i></i> rs960070/<i>BDNF<i></i></i> rs6265/<i>BDNF</i> rs2049046) separately, though it was negative in overall subjects.Conclusion The <i>ESR</i> gene polymorphism associates with ADHD among Chinese Han children, with interactions between <i>ESR<i></i></i> genes and neurodevelopmental genes potentially influencing the susceptibility of ADHD.

      • KCI등재

        The Clinical Manifestation, Executive Dysfunction, and Caregiver Strain in Subthreshold Attention-Deficit/Hyperactivity Disorder

        Yajing Tang,Sunwei Qiu,Haimei Li,Feifei Si,Mengjie Zhao,Min Dong,Meirong Pan,Xinxin Yue,Lu Liu,Qiujin Qian,Yufeng Wang 대한신경정신의학회 2023 PSYCHIATRY INVESTIGATION Vol.20 No.9

        Objective Subthreshold attention-deficit/hyperactivity disorder (ADHD) has been suggested to be a “morbid condition” which also needs medical attention.Methods The present study recruited 89 children with subthreshold ADHD (sADHD), 115 children with diagnosed ADHD (cADHD), and 79 healthy controls (HC) to explore the clinical manifestation, executive functions (EFs) of sADHD, and the caregiver strain. The clinical manifestation was evaluated through clinical interviews and parent-reports. Executive functions were assessed both experimentally and ecologically. Caregiver strain was measured by a parent-reported questionnaire.Results For the clinical manifestation, both sADHD and cADHD indicated impairments when compared with HC. The comorbidities and the scaled symptoms indicated that the externalizing behaviors were relatively less serious in sADHD than cADHD, whereas the internalizing behaviors between two groups were comparable. For ecological EFs, sADHD scored between cADHD and HC in inhibition and working memory. For experimental EFs, sADHD was comparable to cADHD in inhibition, shifting, and was worse than cADHD in verbal working memory. For the caregiver strain, all scores of sADHD were between that in cADHD and that in HC.Conclusion Our present findings supported the suggestion of subthreshold ADHD as “morbid condition,” which should be treated with caution in clinical practice, especially for the internalizing behaviors and some key components of EFs.

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