Individuals with attention deficit hyperactivity disorder (ADHD) show gray matter volume (GMV) reduction in the putamen. KTN1 variants may regulate kinectin 1 expression in the putamen and influence putamen structure and function. We aim to test the hypothesis that the KTN1 variants may represent a genetic risk factor of ADHD. Two independent family-based Caucasian samples were analyzed, including 922 parent-child trios (a total of 2,757 subjects with 924 ADHD children) and 735 parent-child trios (a total of 1,383 subjects with 613 ADHD children). The association between ADHD and a total of 143 KTN1 SNPs was analyzed in the first sample, and the nominally-significant (p < .05) risk SNPs were classified into independent haplotype blocks. All SNPs, including imputed SNPs within these blocks, and haplotypes across each block, were explored for replication of associations in both samples. /journal/ajmgb were associated with ADHD in the second sample. Six haplotypes within these blocks were also significantly (1.2 × 10 −7 ≤ p ≤ .009) associated with ADHD in these samples. These risk variants were located in disease-related transposons and/or transcription-related functional regions. Major alleles of these risk variants significantly increased putamen volumes. Finally, KTN1 mRNA was significantly expressed in putamen across three independent cohorts. We concluded that the KTN1 variants were significantly associated with ADHD. KTN1 may play a functional role in the development of ADHD. K E Y W O R D SADHD, gray matter volume, KTN1, putamen, transcription, transposon

Background: Selective loss of dopaminergic neurons and diminished putamen gray matter volume (GMV) represents a central feature of Parkinson's disease (PD). Recent studies have reported specific effects of kinectin 1 gene (KTN1) variants on the putamen GMV. Objective: To examine the relationship of KTN1 variants, KTN1 mRNA expression in the putamen and substantia nigra pars compacta (SNc), putamen GMV, and PD. Methods: We examined the associations between PD and a total of 1847 imputed KTN1 single nucleotide polymorphisms (SNPs) in one discovery sample [2,000 subjects with PD vs. 1,986 healthy controls (HC)], and confirmed the nominally significant associations (p < 0.05) in two replication samples (900 PD vs. 867 HC, and 940 PD vs. 801 HC, respectively). The regulatory effects of risk variants on the KTN1 mRNA expression in putamen and SNc and the putamen GMV were tested. We also quantified the expression levels of KTN1 mRNA in the putamen and/or SNc for comparison between PD and HC in five independent cohorts. Results: Six replicable and two non-replicable KTN1-PD associations were identified (0.009 ≤ p ≤ 0.049). The major alleles of five SNPs, including rs12880292, rs8017172, rs17253792, rs945270, and rs4144657, significantly increased risk for PD (0.020 ≤ p ≤ 0.049) and putamen GMVs (19.08 ≤ β ≤ 60.38; 2.82 ≤ Z ≤ 15.03;

No abstract

Background: Patients with schizophrenia have deficits in identifying and recognizing emotional facial expressions. Aim: This study aimed to explore the event-related potential (ERP) responses of patients with schizophrenia (SZ) and healthy controls (HC) using the Chinese Facial Affective Picture System (CFAPS). Methods: This study included 30 SZs and 31 HCs. We asked them to complete the task based on the oddball paradigm, in which three emotional faces (happy, fearful, and neutral) were used as target stimuli. Additionally, the amplitude and latency of the N170 component and the P300 component were recorded synchronously. Results: Compared with HCs, SZs had significantly smaller amplitudes of N170 and P300 to all facial expressions. The pairwise comparison revealed that fearful faces could trigger a significantly larger P300 amplitude in HCs than neutral faces, while the such a difference was not found in SZs. Conclusion: These findings indicated that SZs had a noticeable deficiency in the structural coding of face recognition and available attentional resources.