Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Human Genetics

Human 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...

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Pharmacogenetic 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...

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Epistasis Analysis

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Mars sample return campaign: biological risk and a proposed sample safety assessment protocol.

Applied and environmental microbiology·2026

Same author

Experiments reveal extreme water generation during planet formation.

Nature·2025

Same author

Redox-driven mineral and organic associations in Jezero Crater, Mars.

Nature·2025

Same author

Environmental Changes Recorded in Sedimentary Rocks in the Clay-Sulfate Transition Region in Gale Crater, Mars: Results From the Sample Analysis at Mars-Evolved Gas Analysis Instrument Onboard the Mars Science Laboratory <i>Curiosity</i> Rover.

Journal of geophysical research. Planets·2024

Same author

Do focused interests support word learning? A study with autistic and nonautistic children.

Autism research : official journal of the International Society for Autism Research·2024

Same author

Aqueously altered igneous rocks sampled on the floor of Jezero crater, Mars.

Science (New York, N.Y.)·2022

Search research articles

Related Experiment Videos

Multivariate permutation analysis associates multiple polymorphisms with subphenotypes of major depression.

M K Hahn¹, J U Blackford, K Haman

¹Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA. maureen.hahn@vanderbilt.edu

Genes, Brain, and Behavior

|December 18, 2007

Summary

This study links specific gene variants to depression subtypes. Genetic variations in norepinephrine transporter (NET) and choline transporter (CHT) genes correlate with recurrent depression, appetite changes, and overall depression severity.

Related Experiment Videos

Area of Science:

Neuroscience
Genetics
Psychiatry

Background:

Major depressive disorder (MDD) is a complex condition influenced by genetic and environmental factors.
Current MDD diagnosis relies on cumulative symptom measures, limiting the understanding of its genetic underpinnings.
Dissecting MDD into component features and analyzing gene associations offers a promising approach to identify genetic determinants.

Purpose of the Study:

To investigate the association between common polymorphic variants in monoaminergic and cholinergic pathway genes and specific phenotypic features of MDD.
To apply a robust statistical method for genotype-phenotype relationship inference in a well-phenotyped MDD cohort.
To explore how gene variations influence distinct symptom dimensions within MDD.

Main Methods:

Genotyping of polymorphic variants in genes related to central monoaminergic and cholinergic pathways in 110 individuals with unipolar MDD.
Phenotypic characterization using the Structured Clinical Interview for DSM IV, the 17-item Hamilton Rating Scale for Depression (HAM-D), and the NEO Five Factor Inventory.
Multivariate Permutation Testing (MPT) to analyze genotype-phenotype relationships and infer associations.

Main Results:

Significant association found between NET gene variant rs2242446 and recurrent depression (OR = 4.15).
NET gene variant rs28386840 associated with increased appetite (OR = 3.58).
Presynaptic CHT gene variant rs1013940 linked to higher HAM-D-17 total scores, indicating overall depression severity (OR = 2.74).

Conclusions:

Specific gene variants in NET and CHT are associated with distinct phenotypic features of MDD.
This approach of dissecting MDD into subphenotypes aids in elucidating gene influences.
Replication of these findings may facilitate the identification of MDD subpopulations for targeted pharmacotherapy.