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

Protein Complexes with Interchangeable Parts

Protein Complexes with Interchangeable Parts

Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order to...

Epistasis

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Pharmacogenetics 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...

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

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...

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...

You might also read

Related Articles

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

Sort by

Same author

Resident memory CD8(+) T cells dominate lymphoid immune cell population in human pancreatic islets in health and type 2 diabetes.

BMJ open diabetes research & care·2025

Same author

GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.

Nature genetics·2023

Same author

Genetic insights into resting heart rate and its role in cardiovascular disease.

Nature communications·2023

Same author

Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake.

Nature genetics·2023

Same author

Genome-wide mRNA profiling in urinary extracellular vesicles reveals stress gene signature for diabetic kidney disease.

iScience·2023

Same author

Identification of biomarkers for glycaemic deterioration in type 2 diabetes.

Nature communications·2023

Search research articles

Related Experiment Video

Updated: Jul 10, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Published on: April 19, 2013

Variants in the FFAR1 gene are associated with beta cell function.

Martins Kalis¹, Per Levéen, Valeriya Lyssenko

¹Department of Clinical Sciences, Cellular Autoimmunity Unit, Lund University, Malmö University Hospital, Malmö, Sweden.

|November 8, 2007

Summary

Variations in the FFAR1 gene are linked to impaired beta cell function. A specific FFAR1 gene haplotype may offer protection against Type 2 diabetes (T2D).

More Related Videos

Assessing Replication and Beta Cell Function in Adenovirally-transduced Isolated Rodent Islets

Assessing Replication and Beta Cell Function in Adenovirally-transduced Isolated Rodent Islets

Published on: June 25, 2012

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: Jul 10, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Published on: April 19, 2013

Assessing Replication and Beta Cell Function in Adenovirally-transduced Isolated Rodent Islets

Assessing Replication and Beta Cell Function in Adenovirally-transduced Isolated Rodent Islets

Published on: June 25, 2012

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

Genetics
Endocrinology
Metabolic Diseases

Background:

The FFAR1 receptor, primarily in pancreatic beta cells, is activated by free fatty acids (FFAs) and thiazolidinediones, influencing insulin secretion.
FFAR1's role in mediating lipotoxicity and its potential link to Type 2 diabetes (T2D) warrant investigation.
Understanding FFAR1 gene variations is crucial for insights into T2D pathogenesis.

Purpose of the Study:

To investigate the association between variations at the FFAR1 locus and Type 2 diabetes (T2D).
To examine the relationship between FFAR1 gene variations and beta cell function.

Main Methods:

Re-sequencing of the FFAR1 gene in 96 subjects (48 healthy, 48 T2D) identified 13 single nucleotide polymorphisms (SNPs).
Two upstream SNPs (rs1978013 and rs1978014) were genotyped in a larger cohort (1929 T2D patients, 1405 controls).

Main Results:

An association was observed between rs1978013 and insulinogenic index in males (p=0.024) and rs1978014 in females (p=0.032).
No significant association with T2D was found after Bonferroni corrections in the case-control analysis.
A protective haplotype (T-G alleles) against T2D was identified (p=0.0010).

Conclusions:

Genetic variations within the FFAR1 gene may influence beta cell function.
The FFAR1 gene represents a potential factor in the development of impaired beta cell function observed in T2D.