Browsing by Author "Dongguk University Ilsan Hospital"

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    Correlation of structural abnormalities of the wrist and metacarpophalangeal joints evaluated by high-resolution peripheral quantitative computed tomography, 3 Tesla magnetic resonance imaging and conventional radiographs in rheumatoid arthritis
    (2015-07-01) Chan Hee Lee; Waraporn Srikhum; Andrew J. Burghardt; Warapat Virayavanich; John B. Imboden; Thomas M. Link; Xiaojuan Li; University of California, San Francisco; Dongguk University Ilsan Hospital; Thammasat University; Mahidol University; University of California System; San Francisco General Hospital and Trauma Center
    © 2015 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd. Aim: In rheumatoid arthritis (RA) hands, we applied high-resolution peripheral quantitative computed tomography (HR-pQCT) and 3 Tesla (3 T) magnetic resonance imaging (MRI), which are new methods for erosion detection and bone marrow edema (BME) quantification. We compared the erosion measurements between these techniques with conventional radiographs (CR) in order to examine their significance for evaluating structural abnormalities. Methods: In 16 RA patients, HR-pQCT of metacarpophalangeal and wrist joints, 3 T MRI of wrist joints, as well as CR in both hands and feet were performed. Ten patients had 1-year follow-up CR. CRs were graded according to the modified Sharp score (MSS). Bone erosions were evaluated in HR-pQCT and MRI. BME pattern was quantified from MRI for volume, signal change and total burden. Results: The erosion detection sensitivity of MRI was 85.7% and CR was 60.9% when HR-pQCT was considered as a reference method. The smallest dimensions of erosion detected by HR-pQCT, MRI and CR were 0.09, 0.14 and 0.66 cm, respectively. Baseline total MSS was correlated with HR-pQCT erosion measures, MRI erosion measures and MRI BME volume (P < 0.05). The mean difference between baseline and 1-year follow-up MSS (delta MSS) was 1.2. A trend was observed toward a correlation between delta MSS and MRI BME volume and burden. Conclusion: This study demonstrates that HR-pQCT detects more and smaller bone erosions compared to MRI and CR. In addition, 3 T MRI can provide quantitative measurement of BME. Combination of HR-pQCT and MRI modalities may provide powerful tools to evaluate joint inflammation and bone damage in RA.
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    A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease
    (2021-07-01) Matthew Moll; Victoria E. Jackson; Bing Yu; Megan L. Grove; Stephanie J. London; Sina A. Gharib; Traci M. Bartz; Colleen M. Sitlani; Josee Dupuis; George T. O’Connor; Hanfei Xu; Patricia A. Cassano; Bonnie Kaufmann Patchen; Woo Jin Kim; Jinkyeong Park; Kun Hee Kim; Buhm Han; R. Graham Barr; Ani Manichaikul; Jennifer N. Nguyen; Stephen S. Rich; Lies Lahousse; Natalie Terzikhan; Guy Brusselle; Phuwanat Sakornsakolpat; Jiangyuan Liu; Christopher J. Benway; Ian P. Hall; Martin D. Tobin; Louise V. Wain; Edwin K. Silverman; Michael H. Cho; Brian D. Hobbs; Siriraj Hospital; Dongguk University Ilsan Hospital; Universiteit Gent; University of Leicester; Erasmus MC; University of Virginia School of Medicine; Queen's Medical Centre; National Institute of Environmental Health Sciences (NIEHS); University of Washington School of Medicine; Columbia University Irving Medical Center; Walter and Eliza Hall Institute of Medical Research; University of Melbourne; School of Public Health; Brigham and Women's Hospital; University of Washington; University of Texas School of Public Health; Glenfield Hospital; Weill Cornell Medicine; Cornell University; University of Ulsan College of Medicine; Boston Medical Center; Harvard Medical School; Kangwon National University; Seoul National University College of Medicine
    Genome-wide association studies (GWASs) have identified regions associated with chronic obstructive pulmonary disease (COPD). GWASs of other diseases have shown an approximately 10-fold overrepresentation of nonsynonymous variants, despite limited exonic coverage on genotyping arrays. We hypothesized that a large-scale analysis of coding variants could discover novel genetic associations with COPD, including rare variants with large effect sizes. We performed a meta-analysis of exome arrays from 218,399 controls and 33,851 moderate-to-severe COPD cases. All exome-wide significant associations were present in regions previously identified by GWAS. We did not identify any novel rare coding variants with large effect sizes. Within GWAS regions on chromosomes 5q, 6p, and 15q, four coding variants were conditionally significant (P < 0.00015) when adjusting for lead GWAS single-nucleotide polymorphisms A common gasdermin B (GSDMB) splice variant (rs11078928) previously associated with a decreased risk for asthma was nominally associated with a decreased risk for COPD [minor allele frequency (MAF)=0.46, P = 1.8e-4]. Two stop variants in coiled-coil a-helical rod protein 1 (CCHCR1), a gene involved in regulating cell proliferation, were associated with COPD (both P < 0.0001). The SERPINA1 Z allele was associated with a random-effects odds ratio of 1.43 for COPD (95% confidence interval = 1.17–1.74), though with marked heterogeneity across studies. Overall, COPD-associated exonic variants were identified in genes involved in DNA methylation, cell-matrix interactions, cell proliferation, and cell death. In conclusion, we performed the largest exome array meta-analysis of COPD to date and identified potential functional coding variants. Future studies are needed to identify rarer variants and further define the role of coding variants in COPD pathogenesis.