Related Experiment Video
Updated: Jul 11, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
KTN1 variants and risk for attention deficit hyperactivity disorder
Xingguang Luo1,2, Xiaoyun Guo3, Yunlong Tan1
1Biological Psychiatry Research Center, Beijing Huilongguan Hospital, Beijing, China.
Summary
Genetic variants in the KTN1 gene are significantly associated with attention deficit hyperactivity disorder (ADHD). These KTN1 variants may influence brain structure, specifically the putamen, and play a role in ADHD development.
Area of Science:
- Neurogenetics
- Psychiatric Disorders
Background:
- Individuals with attention deficit hyperactivity disorder (ADHD) exhibit reduced gray matter volume (GMV) in the putamen.
- The KTN1 gene and its variants are hypothesized to regulate kinectin 1 expression, potentially impacting putamen structure and function.
Purpose of the Study:
- To investigate whether KTN1 gene variants represent a genetic risk factor for ADHD.
- To explore the association between KTN1 single nucleotide polymorphisms (SNPs) and ADHD in Caucasian family-based samples.
Main Methods:
- Analysis of 143 KTN1 SNPs in 922 parent-child trios (2,757 subjects).
- Identification and replication of significant risk SNPs and haplotype blocks in an independent sample of 735 trios (1,383 subjects).
- Bioinformatics analysis of risk SNPs, assessment of their effect on putamen volume, and examination of KTN1 mRNA expression in human putamen tissue.
Main Results:
- Fifteen SNPs showed nominal association with ADHD, with three remaining significant after multiple testing correction.
- These risk SNPs were located in five haplotype blocks, with 13 SNPs and six haplotypes showing significant association in the replication sample.
- Risk variants were linked to disease-related regions and significantly increased putamen volumes; KTN1 mRNA was expressed in the putamen.
Conclusions:
- KTN1 gene variants are significantly associated with ADHD, suggesting a genetic link.
- KTN1 may play a functional role in the neurobiological underpinnings of ADHD, potentially through its influence on putamen structure.
More Related Videos
Related Concept Videos
01:00Enzyme-linked Receptors
Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:30Attention-Deficit/Hyperactivity Disorder
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings.
01:26Type II Diabetes I: Introduction
Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...