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

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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...

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...

Pharmacogenomics: Identification of New Drug Targets

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

You might also read

Related Articles

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

Sort by

Same author

Identification of a novel missense mutation c.655G>A in the A4GALT*02 allele from a Chinese individual with p phenotype.

Transfusion·2026

Same author

Incidence of endometrial cancer among postmenopausal women using vaginal estrogen compared to estrogen and progestin combination hormone therapy.

Menopause (New York, N.Y.)·2026

Same author

Consistency of response to rimegepant for the acute treatment of migraine among real-world users - findings from the prospective observational CONFIDENCE study.

The journal of headache and pain·2026

Same author

Martensitic Transformation and Strengthening Mechanism in a 304 Stainless Steel Subjected to Wire Drawing.

Materials (Basel, Switzerland)·2026

Same author

A retrospective cohort study comparing treatment persistence between rimegepant and lasmiditan for the acute treatment of migraine in the US.

Cephalalgia : an international journal of headache·2026

Same author

Fipexide (FPX), a chemical callus inducer, promotes in vitro shoot regeneration and <i>Agrobacterium</i>-mediated genetic transformation in three fruit tree species.

Plant biotechnology (Tokyo, Japan)·2026

Search research articles

Related Experiment Video

Updated: Jun 15, 2026

Cell Subtype-specific Analysis of Neuronal Membrane Proteasome in Somatosensory Neurons

Cell Subtype-specific Analysis of Neuronal Membrane Proteasome in Somatosensory Neurons

Published on: October 10, 2025

Pain perception is altered by a nucleotide polymorphism in SCN9A.

Frank Reimann¹, James J Cox, Inna Belfer

¹Department of Clinical Biochemistry, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 0XY, United Kingdom.

Proceedings of the National Academy of Sciences of the United States of America

|March 10, 2010

Summary

Single nucleotide polymorphisms (SNPs) in the SCN9A gene influence pain perception. The SCN9A rs6746030 A allele is linked to increased pain sensitivity across various conditions.

Related Experiment Videos

Last Updated: Jun 15, 2026

Cell Subtype-specific Analysis of Neuronal Membrane Proteasome in Somatosensory Neurons

Cell Subtype-specific Analysis of Neuronal Membrane Proteasome in Somatosensory Neurons

Published on: October 10, 2025

Area of Science:

Genetics
Neuroscience
Pain Research

Background:

The SCN9A gene encodes the Nav1.7 sodium channel, crucial for pain signaling.
Mutations in SCN9A cause extreme pain disorders or complete pain absence.
Investigating SCN9A single nucleotide polymorphisms (SNPs) may reveal genetic influences on general pain perception.

Purpose of the Study:

To determine if SCN9A SNPs are associated with varying pain perception in the general population.
To explore the functional consequences of identified SCN9A variants on Nav1.7 channel activity.

Main Methods:

Genotyping of 27 SCN9A SNPs in 578 osteoarthritis patients.
Association analysis of SNP rs6746030 with pain scores in five cohorts (1277 individuals total).
Electrophysiological assessment of rs6746030 alleles in HEK293 cells; genotyping in healthy females responding to noxious stimuli.

Main Results:

SNP rs6746030 showed a significant association with pain scores (P=0.016 in osteoarthritis).
The rarer A allele of rs6746030 was linked to higher pain scores across all tested cohorts (combined P=0.0001).
rs6746030 alleles differentially affected Nav1.7 channel inactivation, with the A allele predicted to increase activity; A allele associated with altered pain threshold in healthy females.

Conclusions:

SCN9A genotype, specifically rs6746030, influences individual pain perception.
The rs6746030 A allele may increase pain sensitivity through enhanced Nav1.7 channel function.
Genetic variations in SCN9A contribute to the spectrum of human pain experience.