PedGenie beta version 2.1 is a unique, flexible, and easily implemented analysis software tool that is enhanced significantly by incorporation of meta-statistics to allow valid combined analysis of multiple studies, including mixtures of family-based and independent resources, in the detection of genetic association with common disease. Genetic Analysis Workshop 15 Problem 2 data, provided by the North American Rheumatoid Arthritis Consortium, were used to demonstrate PedGenie 2.1 meta-association testing of variants in the PTPN22 gene and rheumatoid arthritis across multiple resources containing both family-based and independent individuals. Our findings are generally consistent with previous reports for a panel of 14 single-nucleotide polymorphism (SNP) markers, including functional coding SNP R620W, in which the minor allele conferred a significant two-fold increased risk. More power to detect associations was achieved in certain analyses by using extra family-based samples, rather than restricting analyses to single cases randomly selected from each pedigree.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2367587 | PMC |
| http://dx.doi.org/10.1186/1753-6561-1-s1-s12 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Impact of Periodontal Treatment on Early Rheumatoid Arthritis and the Role of Porphyromonas gingivalis Antibody Titers.
Med Sci Monit
January 2025
Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Takatsuki, Osaka, Japan.
BACKGROUND Periodontal disease and rheumatoid arthritis (RA) are closely related, and periodontal therapy can potentially improve RA activity. However, it is not clear in which RA patient populations are more effective periodontal therapy for RA treatment. This study aimed to evaluate the effects of treatment for periodontal disease in 30 patients with rheumatoid arthritis and the titers of antibodies to Porphyromonas gingivalis (P.
View Article and Find Full Text PDFWarrick score in rheumatoid-arthritis interstitial lung disease: a promising tool for assessing the extent and progression of lung involvement.
Adv Rheumatol
January 2025
Division of Rheumatology, Department of Internal Medicine, Kocaeli University Faculty of Medicine, İzmit, Kocaeli, 41380, Turkey.
Background: The clinical manifestations and course of rheumatoid arthritis-associated interstitial lung disease (RA-ILD) exhibits considerable heterogeneity. In this study, we aimed to explore radiographic progression over a defined period, employing the Warrick score as a semi-quantitative measure in early RA-ILD, and to assess the associated risk factors for progression.
Methods: RA-ILD patients underwent consecutive Warrick scoring based on initial high-resolution computed tomography (HRCT) at diagnosis and the first follow-up.
MAPK4 inhibits the early aberrant activation of B cells in rheumatoid arthritis by promoting the IRF4-SHIP1 signaling pathway.
Cell Death Dis
January 2025
Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
The involvement of B lymphocytes in the pathogenesis of rheumatoid arthritis (RA) is well-established, with their early and aberrant activation being a crucial factor. However, the mechanisms underlying this abnormal activation in RA remain incompletely understood. In this study, we identified a significant reduction in MAPK4 expression in both RA patients and collagen-induced arthritis (CIA) mouse models, which correlates with disrupted B cell activation.
View Article and Find Full Text PDF[Analysis and prediction of the age-period-cohort model of disease burden of rheumatoid arthritis in China from 1990 to 2019].
Zhonghua Nei Ke Za Zhi
February 2025
Department of Rheumatology, the First Affiliated Hospital of Harbin Medical University, Harbin150001, China.
Using the Global Burden of Disease Study 2019 (GBD 2019) database, the Joinpoint regression model was used to analyze the trend of rheumatoid arthritis (RA) incidence and the standardized disability-adjusted life years (DALY) rate in China. The age, period, and cohort effects were discussed based on the age-period-cohort model. The grey prediction model GM (1, 1) was used to fit the trend of incidence and the standardized DALY rate of RA and predict the incidence and standardized DALY rate of RA in China from 2020 to 2034.
View Article and Find Full Text PDF[The characteristics and associated factors of hand dysfunction in patients with rheumatoid arthritis].
Zhonghua Nei Ke Za Zhi
February 2025
Department of Rheumatology and Immunology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou510120, China.
To investigate the characteristics of hand dysfunction and its associated factors in patients with rheumatoid arthritis (RA). A cross-sectional study. Patients with RA were recruited from January 2019 to April 2024 at the Department of Rheumatology and Immunology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!