Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

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...
Genome-wide Association Studies-GWAS01:11

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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

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...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
Single Nucleotide Polymorphisms-SNPs01:05

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,...
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...

You might also read

Related Articles

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

Sort by
Same author

Genetic architecture of oral glucose-stimulated insulin release provides biological insights into type 2 diabetes aetiology.

Nature metabolism·2024
Same author

Does the concept of "ultra-processed foods" help inform dietary guidelines, beyond conventional classification systems? NO.

The American journal of clinical nutrition·2022
Same author

Sustainable and personalized nutrition: From earth health to public health.

European journal of internal medicine·2021
Same author

The association between vitamin D receptor polymorphisms and tissue-specific insulin resistance in human obesity.

International journal of obesity (2005)·2021
Same author

Influence of type of dairy matrix micro- and macrostructure on in vitro lipid digestion.

Food & function·2020
Same author

The Relationship between Circulating Acetate and Human Insulin Resistance before and after Weight Loss in the DiOGenes Study.

Nutrients·2020
Same journal

Unhealthy fat distribution as a sex-specific predictor of declining hippocampus insulin sensitivity.

Diabetologia·2026
Same journal

Baseline and longitudinal joint associations of alcohol consumption and obesity with diabetes risk: evaluating multiplicative and additive interactions.

Diabetologia·2026
Same journal

GIP contributes to postprandial regulation of splanchnic blood supply in humans with type 2 diabetes: a randomised, single-blinded, placebo-controlled, crossover study.

Diabetologia·2026
Same journal

Correction: Analysis of glycaemic control with a connected smart pen cap in adults with type 1 diabetes: a randomised, open-label, parallel-group trial.

Diabetologia·2026
Same journal

History of infertility, risk of type 2 diabetes and HbA<sub>1c</sub> levels in the Nurses' Health Study II.

Diabetologia·2026
Same journal

Delayed maturation of the milk microbiome in women with type 1 diabetes.

Diabetologia·2026
See all related articles

Related Experiment Video

Updated: May 16, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

A Albrechtsen1, N Grarup, Y Li

  • 1Centre of Bioinformatics, Faculty of Science, University of Copenhagen, Copenhagen, Denmark.

Diabetologia
|November 20, 2012
PubMed
Summary
This summary is machine-generated.

This study used exome sequencing to find genetic links to metabolic traits. It identified common coding polymorphisms in CD300LG, COBLL1, and MACF1 associated with metabolic phenotypes.

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Related Experiment Videos

Last Updated: May 16, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genetics and Genomics
  • Metabolic Disorders
  • Human Physiology

Background:

  • Human metabolic traits are influenced by genetic factors.
  • Identifying genetic determinants is crucial for understanding metabolic diseases.
  • Previous studies have explored genetic associations with metabolic phenotypes.

Purpose of the Study:

  • To identify novel associations between coding polymorphisms (minor allele frequencies >1%) and common metabolic phenotypes using exome sequencing.
  • To investigate the impact of genetic variations on traits like type 2 diabetes, BMI, and hypertension.
  • To discover new genetic contributors to complex metabolic traits.

Main Methods:

  • Whole exome sequencing was performed on 1,000 cases (type 2 diabetes, high BMI, hypertension) and 1,000 controls.
  • Polymorphisms associated with case-control status were selected and genotyped in a larger cohort (15,989 Danes).
  • Further validation and meta-analysis were conducted in an additional 63,896 Europeans.

Main Results:

  • Exome sequencing identified 70,182 polymorphisms with minor allele frequencies >1%.
  • Fifty-one potential associations with eight metabolic phenotypes were identified.
  • Robust associations were found for coding polymorphisms in CD300LG (HDL-cholesterol), COBLL1 (type 2 diabetes), and MACF1 (type 2 diabetes).

Conclusions:

  • Exome sequencing is effective for identifying genetic determinants of metabolic traits.
  • Common coding polymorphisms (MAF >1%) can impact common metabolic traits.
  • The identified polymorphisms do not appear to have exceptionally large effect sizes on the measured metabolic traits.