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

12.6K
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...
12.6K

You might also read

Related Articles

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

Sort by
Same author

Topical trichloroacetic acid versus electrocautery for treatment of anal intraepithelial neoplasia in people living with HIV: a multicentre, randomised, non-inferiority trial (TECAIN-study).

Infection·2026
Same author

Real-world treatment patterns and determinants of therapy in systemic sclerosis: findings from the German Network for SSc cohort.

Arthritis research & therapy·2026
Same author

[Beau's lines: nail disorder reflecting chemotherapy cycles].

Dermatologie (Heidelberg, Germany)·2026
Same author

[23/m with purulent, inflamed lumps in the genital area : Preparation for the medical specialist examination: part 58].

Dermatologie (Heidelberg, Germany)·2026
Same author

Prurigo Pigmentosa - an increasingly diagnosed dermatological condition associated with ketogenic diet.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·2026
Same author

Novel HLA class I and II insights into the pathogenesis of systemic sclerosis-associated interstitial lung disease.

Annals of the rheumatic diseases·2026

Related Experiment Video

Updated: May 4, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

9.2K

Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.

Maureen D Mayes1, Lara Bossini-Castillo2, Olga Gorlova3

  • 1The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.

American Journal of Human Genetics
|January 7, 2014
PubMed
Summary

This study identified three new systemic sclerosis (SSc) genetic risk loci: DNASE1L3, SCHIP1-IL12A, and ATG5. The research also refined known SSc associations, enhancing our understanding of autoimmune disease genetics.

More Related Videos

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
12:36

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry

Published on: June 26, 2018

8.7K
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

12.5K

Related Experiment Videos

Last Updated: May 4, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

9.2K
Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
12:36

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry

Published on: June 26, 2018

8.7K
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

12.5K

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Human Genetics

Background:

  • Systemic sclerosis (SSc) is a complex autoimmune disease with a significant genetic component.
  • Understanding the genetic architecture of SSc is crucial for developing targeted therapies.

Purpose of the Study:

  • To identify novel genetic risk loci for systemic sclerosis (SSc).
  • To refine and validate previously reported SSc associations using dense genotyping and imputation.
  • To investigate the genetic underpinnings of SSc susceptibility in a large European cohort.

Main Methods:

  • Genotyping of 1,833 SSc cases and 3,466 controls using the Immunochip array.
  • Imputation of classical alleles, amino acid residues, and SNPs within the human leukocyte antigen (HLA) region.
  • Replication analysis in an independent cohort of 4,017 SSc cases and 5,935 controls for selected variants.

Main Results:

  • Identification and validation of three novel SSc risk loci: DNASE1L3 (3p14), SCHIP1-IL12A (3q25), and ATG5 (6q21).
  • A suggested association for the TREH-DDX6 locus (11q23) was observed.
  • Refinement of previously known SSc risk loci, including linking the PXK association peak to DNASE1L3.

Conclusions:

  • This study significantly expands the number of known genetic associations for systemic sclerosis.
  • The findings provide insights into the pleiotropic effects of shared autoimmune risk factors.
  • Dense mapping strategies are effective in uncovering previously overlooked SSc susceptibility loci.