An official website of the United States government
          Here’s how you know
        Here’s how you know**Official websites use .gov**A
              **.gov** website belongs to an official government
              organization in the United States.
        **Secure .gov websites use HTTPS**A
              **lock** (
              Locked padlock icon) or **https://** means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.
 Top Utility Nav
        
        
        Asian-Language Resources
        
        Portal en español


Site search Mega Menu
  

        

        Home
                  Health Topics
                                      
    
  Health Topics

    Arthritis and Rheumatic Diseases
          
    Muscle and Bone Diseases
          
    Skin Diseases
          
    All Diseases and Conditions
          
    Publication Catalog
                  Grants & Funding
                                      
    
  Grants & Funding

    Current Funding Opportunities
          
    Supported Scientific Programs
          
    NIAMS-Supported Programs
          
    Applying for a Grant
          
    NIH Policies and Guidance
          
    Peer Review and Grants Administration Resources
          
    Types of Funding Mechanisms (Activity Codes)
                  Labs @ NIAMS
                                      
    
  Labs @ NIAMS

    NIAMS Labs and Core Facilities
          
    Research Faculty
          
    Research Areas
          
    NIAMS Scientific Advances
          
    Training and Career Development
                  Clinical Trials
                                      
    
  Clinical Trials
      
            For Principal Investigators

    Clinical Trial Policies, Guidelines, and Templates
          
    Conducting Clinical Trials
          
    Register with ClinicalTrials.gov

For Patients

What is a Clinical Trial?
	Clinical Trials at NIAMS
	Clinical Trials in the Spotlight
                  News & Events
                                      
    
  Newsroom

    All NIAMS News
          
    NIAMS Newsletters
          
    Meetings & Events
                  About NIAMS
                                      
    
  About NIAMS

    Director's Page
          
    NIAMS Organization
          
    Strategic Plan Fiscal Years 2020-2024
          
    Staff Directory
          
    NIAMS Budget
          
    Partnerships
          
    Contact NIAMS
                  Community Outreach
                                      
    
  Community Outreach

    Bone Health
          
    Joint Health
          
    Muscle, Tendon, and Ligament Health
          
    Skin Health
          
    Health Information For Kids And Young Adults
          
    Health Information For Older Adults/Seniors
          
    Printable Materials for Community Events
          
    Resources in Other Languages
          
    Annual Health Observances
          
    Social Media Resources Breadcrumb
    Home
          Labs @ NIAMS
          NIAMS Scientific Advances
          Family-based Analysis of Whole Genomes in Lupus








NIAMS Advances


Family-based Analysis of Whole Genomes in Lupus July 24, 2023
                                CLINICAL
        Laura B. Lewandowski, M.S., M.D.
                                          |
              Lupus Genomics and Global Health Disparities Unit
                                          |
              NIAMS IRP
        DescriptionIn this study, the authors applied a robust method of genomic analysis called Transmission Disequilibrium Testing (TDT), which is historically used for analyzing single genes across the entire genome of lupus patients. The study is family-based, meaning healthy parents of patients with lupus were included as controls. The authors demonstrated that the genomes of people with early-onset lupus have more rare variants, which may contribute to disease.What is exciting about this article?This study is exciting because the researchers were able to identify several novel rare variants not yet reported in lupus. This study is the first to use a family-based method across the entire genome to find variants important in lupus. Additionally, this study included a childhood-onset lupus population that was diverse, both in genetic ancestry and geographic location.Grant supportAR041214
        Research Areas:
            Epidemiology
      Genetics and Genomics
      Health Disparities
                                        Reference:
            Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus.

    Vazzana KM, Musolf AM, Bailey-Wilson JE, Hiraki LT, Silverman ED, Scott C, Dalgard CL, Hasni S, Deng Z, Kaplan MJ, Lewandowski LB
        

                    Genes Immun.
        
                    2023 Aug;
        
                    24(4).
        
                    doi: 10.1038/s41435-023-00214-x
                            PMID: 37488248
        Research reported in this publication was supported by the Intramural Research Program of the NIHʼs National Institute of Arthritis and Musculoskeletal and Skin Diseases.
        Previous See All Advances Next


Recent Advances
    
      Selected recent highlights of NIAMS intramural research:October 3, 2023The Transcription Factor STAT4 Controls the Fate of Cytotoxic Innate Lymphocytes
    September 26, 2023The Microbiomes of People with Recombination-Activating Gene (RAG) Deficiency Have Distinct Features, Including Antimicrobial Resistance Signatures
    September 26, 2023Genetic Variants of PLCG2 Cause Immune Dysregulation Through Either Increased or Decreased Function
    September 23, 2023Neutrophil Extracellular Traps (NETs) Trigger Pathogenic Inflammation and Bone Loss in Periodontitis
    September 22, 2023Possible Mechanism of a Rare Bone Overgrowth Disease Identified


Back to Top
 About NIAMS
                    Clinical Trials
                    Grants & Funding
                    Health Topics
                    Labs @ NIAMS
              News Room
                    NIAMS Multimedia Library
                    Disclaimer
                    FOIA
                    Contact us
              Privacy Statement
                    Accessibility
                    HHS Vulnerability Disclosure
                    Social Media Moderation Policy
                    NIAMS Archives
        Subscribe to Our E-Newsletters
            Click the button to see different options to sign up for newsletters.
            Click Here to Subscribe
          Follow us on
  
  About NIH
                  Accessibility Support
            FOIA requests
                  No FEAR Act data
            Office of the Inspector General
                  Performance reports
            Privacy Policy Back to Top