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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.4K
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...
14.4K
Incomplete Dominance01:43

Incomplete Dominance

25.8K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.8K
Human Genetics01:28

Human Genetics

746
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...
746
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

16.0K
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,...
16.0K
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

4.6K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
4.6K

You might also read

Related Articles

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

Sort by
Same author

Enhancing the conception rate in water buffalo using post-AI intravaginal bio-stimulation and clitoral massage.

Open veterinary journal·2026
Same author

Four-Week vs Six-Week Antibiotic Therapy in the Management of Nonsurgically Treated Diabetic Foot Osteomyelitis: Protocol for a Multicentric, Single-Blind Randomized Clinical Trial.

JMIR research protocols·2026
Same author

Correction: Rapid pan-cancer detection <i>via</i> label-free impedance profiling of cell-free DNA.

Lab on a chip·2026
Same author

Premenstrual syndrome and its relation to socio demographic variables among middle -aged women in India.

Bioinformation·2026
Same author

Panoramic Insights: Predicting Age and Gender from Dental X-Rays Using Deep Learning Models.

Journal of imaging informatics in medicine·2026
Same author

Synthetic peptide-based latex agglutination test for the detection of <i>Bacillus anthracis</i> spores from soil samples.

RSC advances·2026

Related Experiment Video

Updated: Sep 20, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

13.8K

Meta-analysis of HNF1A-MODY3 variants among human population.

Rachna Behl1, Nishtha Malhotra2, Vinay Joshi3

  • 1Department of Biochemistry, Panjab University, Chandigarh, India.

Journal of Diabetes and Metabolic Disorders
|June 8, 2022
PubMed
Summary

This meta-analysis identified nine significant mutations in the HNF1A gene associated with Maturity Onset Diabetes of the Young type 3 (MODY3). These findings consolidate knowledge on genetic variants contributing to MODY3 development.

Keywords:
HNF1AMODY3Meta-analysisSingle nucleotide polymorphisms

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K

Related Experiment Videos

Last Updated: Sep 20, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

13.8K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K

Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes.
  • Numerous case-control studies have investigated MODY-associated variants, but results vary due to population diversity.
  • The HNF1A gene is a key focus for MODY type 3 (MODY3).

Purpose of the Study:

  • To conduct a meta-analysis of studies on HNF1A gene variants and MODY3.
  • To precisely determine the association between single nucleotide polymorphisms (SNPs) in HNF1A and MODY3.
  • To consolidate findings on MODY3-associated mutations.

Main Methods:

  • A meta-analysis was performed on clinically defined studies of HNF1A mutations.
  • Data from 505 research articles published between 2000-2021 were curated.
  • Statistical analysis compared mutation frequencies in diseased (test) and healthy (control) populations.

Main Results:

  • Nine MODY3 mutations (rs587776825, rs1169288, rs1800574, rs2464196, rs137853244, rs137853238, rs587780357, rs137853240, rs137853243) were identified at genome-wide significance (p < 5.0 × 10⁻⁸).
  • The data exhibited homogeneity and a significant association between mutation frequencies and MODY3.
  • The study confirmed non-normal distribution of the data.

Conclusions:

  • This meta-analysis confirms significant associations between HNF1A mutations and MODY3.
  • The findings provide a compiled list of mutations responsible for MODY3.
  • This work aids in understanding the genetic basis of MODY3.