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

12.9K
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...
12.9K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

1.5K
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.5K
Study Designs in Epidemiology01:20

Study Designs in Epidemiology

1.7K
Epidemiological study designs are fundamental tools for investigating the distribution, determinants, and control of health conditions in populations. They help researchers understand the relationships between exposures and outcomes, and they broadly fall into two categories: "observational" and "experimental" studies.
Observational studies are those where the researcher does not intervene but rather observes natural variations. They include cross-sectional, cohort, and...
1.7K
Study Design in Statistics01:15

Study Design in Statistics

7.5K
A study design is a set of techniques that allow a researcher to collect and analyze data from different variables defined for a specific research problem. Statistics is commonly for effective study design and more robust experiments,
Does aspirin reduce the risk of heart attacks? Is one brand of fertilizer more effective at growing roses than another? Is fatigue as dangerous to a driver as the influence of alcohol? Questions like these are answered using randomized experiments with proper...
7.5K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

129
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...
129
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.1K
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,...
15.1K

You might also read

Related Articles

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

Sort by
Same author

GRN rs5848 variant associates with TDP-43 pathology and cancer in opposite directions.

Journal of neuropathology and experimental neurology·2026
Same author

Systematic contextual biases in SegmentNT potentially relevant to other nucleotide transformer models.

bioRxiv : the preprint server for biology·2026
Same author

scVIP: personalized modeling of single-cell transcriptomes for developmental and disease phenotypes.

bioRxiv : the preprint server for biology·2026
Same author

Data-driven thresholds for standardized classification of severe Alzheimer's disease neuropathology using digital neuropathology.

Brain pathology (Zurich, Switzerland)·2026
Same author

Locus coeruleus TDP-43 pathology in a community-based cohort: Clinical and pathological correlates.

Journal of neuropathology and experimental neurology·2026
Same author

Clonal expansion of cytotoxic CD8⁺ T cells in lecanemab-associated ARIA.

Nature communications·2026
Same journal

Enhancing cereal productivity via nitrogen use efficiency: from conventional breeding to modern genomics.

Frontiers in genetics·2026
Same journal

Transcriptomic analysis reveals FcγR-mediated phagocytosis as a key pathway for the anti-inflammatory action of <i>Polygonatum sibiricum</i> polysaccharides in loach.

Frontiers in genetics·2026
Same journal

A novel <i>ABO</i> splice site variant underlying the A<sub>3</sub> phenotype: immunogenetic basis and functional dissection.

Frontiers in genetics·2026
Same journal

Case Report: Identification of two novel <i>ALMS1</i> variants in a patient with a ciliopathy resembling Alström syndrome.

Frontiers in genetics·2026
Same journal

Integrative analysis identifies Hspa5 as a key regulator of the ERS/UPR-immune axis in spinal cord injury.

Frontiers in genetics·2026
Same journal

Evaluation of genomic selection to improve survival of eastern oysters infected with <i>Perkinsus marinus</i>.

Frontiers in genetics·2026
See all related articles

Related Experiment Video

Updated: May 7, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.6K

Combining genetic association study designs: a GWAS case study.

Janice L Estus1, , David W Fardo

  • 1Department of Biostatistics, University of Kentucky Lexington, KY, USA.

Frontiers in Genetics
|October 8, 2013
PubMed
Summary
This summary is machine-generated.

Combining population and family data in genome-wide association studies (GWAS) enhances the detection of genetic variants linked to diabetic nephropathy (DN). This approach, using a novel screening method, identified significant SNPs missed by individual study designs.

Keywords:
case-control studycombined study designdiabetic nephropathiesfamily-based association analysisgenome-wide association

More Related Videos

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

20.2K
A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

4.7K

Related Experiment Videos

Last Updated: May 7, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.6K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

20.2K
A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

4.7K

Area of Science:

  • Genetics
  • Statistical Genetics
  • Genomic Medicine

Background:

  • Genome-wide association studies (GWAS) are crucial for understanding genetic variability and disease susceptibility.
  • Traditional GWAS utilize either population-based or family-based data, each with limitations in detecting associations.
  • Diabetic nephropathy (DN) in type 1 diabetics (T1D) presents a complex genetic component requiring robust association study designs.

Purpose of the Study:

  • To evaluate the effectiveness of combining population- and family-based association tests for DN in T1D.
  • To propose and assess a method for reducing the multiple testing burden in large-scale genetic studies.
  • To identify novel genetic associations with DN by leveraging mixed data designs and efficient screening.

Main Methods:

  • Analysis of unrelated singleton and parent-offspring trio data from the Genetics of Kidneys in Diabetes (GoKinD) study.
  • Application of Cochran-Armitage trend test (population-based) and family-based association test (family-based).
  • Integration of single nucleotide polymorphism (SNP) p-values using Fisher's method and a novel conditional power-based screening approach.

Main Results:

  • Neither population-based nor family-based analysis alone identified SNPs reaching strict genome-wide significance.
  • A combined approach using a screening method identified two significant SNPs: rs11645147 (chromosome 16) and rs7866522 (chromosome 9).
  • The integrated strategy demonstrated improved power to detect genetic associations compared to single-design analyses.

Conclusions:

  • Combining population- and family-based data designs offers enhanced power for detecting genetic associations in complex diseases like DN.
  • The proposed screening approach effectively reduces the multiple testing burden, increasing efficiency in GWAS.
  • This integrated strategy is valuable for future large-scale sequencing and rare variant studies aiming to uncover complex genetic architectures.