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Genetics

45 southern African American SLE pts compared to multiethnic cSLE, AA pts had signif higher Dz activity & greater damage accrual. Their mean SLICC score was 8.4, SLEDAI 13, but was 7.4 @6 mos & 4,7 @1 yr. They traveled an avg distance 75 miles to see Rheum https://t.co/NMlT4uo8jn https://t.co/uG5ofMGE6O
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Prevalence of ANCA Assoc Vasculitis (especially GPA) in Alaskan Natives (AN/AI) is high. GCA prevalence is lower than White populations, but higher than many others. AN/AI peoples w/ AAV & GCA may present at younger ages with more severe disease https://t.co/dhiu6sPGBk https://t.co/rNCo25HGcn
Dr. John Cush @RheumNow( View Tweet )
Systematic review shows PTSD is strongly assoc w/ an increased risk of developing SLE. 7 studies (5 prospect cohort) and 11614 SLE pts - 1,325 (11.4%) had comorbid PTSD, mostly females. All showed + association of PTSD & SLE, 3 showing 2fold incr risk of SLE. No genetic https://t.co/Xjya0QNznQ
Dr. John Cush @RheumNow( View Tweet )
Just published, a review of Inflammasomopathies: mechanisms and disease signatures - these are Gain-of-function mutations in inflammasome receptors leading to chronic inflammatory conditions. https://t.co/kDebFdXlx9 https://t.co/NeJrgI9eRV
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Genetic Analysis of Asymptomatic Antinuclear Antibody Positive Patients A large scale genomic population study found antinuclear antibodies (ANA) in up to 14% of the population; most with ANA are asymptomatic, and ANA production is not associated with significant genetic risk. https://t.co/Ltqf1yaaoy
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Genomics and Future Drug Targets for Osteoarthritis A Nature article details the results of an osteoarthritis, genome-wide association study meta-analyses across up to 489,975 cases and 1,472,094 controls, establishing 962 independent associations, 513 of which have not been https://t.co/OYyePkAeAM
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Genetic Sequencing in Rheumatology

Genetic sequencing as a research and diagnostic tool has expanded in medicine and rheumatology. An interesting review in Arthritis and Rheumatology suggests that despite currently modest use, there will be an expanded role for genetic sequencing in the field of rheumatology. 

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Genetic Analysis of Asymptomatic Antinuclear Antibody Positive Patients

A large scale genomic population study found antinuclear antibodies (ANA) in up to 14% of the population; most with ANA are asymptomatic, and ANA production is not associated with significant genetic risk. 

Asymptomatic individuals who were either

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Genomics and Future Drug Targets for Osteoarthritis

EurekAlert!

A Nature article details the results of an osteoarthritis, genome-wide association study meta-analyses across up to 489,975 cases and 1,472,094 controls, establishing 962 independent associations, 513 of which have not been previously reported. Results were published this week in the journal

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Predictors of Developing RA

A prospective cohort study of seropositive arthralgia patients demonstrated that baseline characteristics and labs can be used to predict which arthralgia patients are at highest risk of developing rheumatoid arthritis (RA).
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Worse Outcomes in HLA-B27+ JIA Patients with juvenile idiopathic arthritis (JIA) who carried the HLA-B27 genetic marker tended to have worse long-term outcomes, including lower rates of drug-free remission, in a prospective Scandinavian study. https://t.co/VEKqHvO1qw https://t.co/49y0JQL0Gr
Dr. John Cush @RheumNow( View Tweet )

Cancer Survival with TNF Inhibitors (3.28.2025)

Dr. Jack Cush reviews the news and journal reports from this past week on RheumNow.com

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A comprehensive examination of the pathogenesis and recent advancements in Familial Mediterranean Fever (FMF). This condition results from autosomal recessive mutations in the MEFV gene, which codes for Pyrin, a crucial component of the NLRP3 inflammasome. These genetic https://t.co/XNV89LW893
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Worse Outcomes in HLA-B27+ JIA

MedPage Today

Patients with juvenile idiopathic arthritis (JIA) who carried the HLA-B27 genetic marker tended to have worse long-term outcomes, including lower rates of drug-free remission, in a prospective Scandinavian study.

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Large GWAS study of smokers, shows that polygenic risk scores (PRS) for RA & ILD were assoc w/ their intended phenotypes in whites (OR 1.32 & 1.88, respectively) but no in blacks https://t.co/FflF2f1orq https://t.co/NlxcASrj9K
Dr. John Cush @RheumNow( View Tweet )

ERA, APPs, & Alpha GAL (3.21.2025)

Dr. Jack Cush reviews the news and journal reports from this past week on RheumNow.com.  Listen in for 2 new case questions - Ask Cush Anything.

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Axial Involvement in Psoriatic Arthritis

Analysis of a Greek Psoriatic Arthritis (PsA) cohort shows that nearly one quarter of patients have axial involvement, and among them, ∼30% have isolated spinal axPsA and nr-axSpA, respectively.

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World Changers (3.14.2025)

Dr Jack Cush and his podcast friends are out to change the world. Here is his weekly review of the news and journal reports from the past week on RheumNow.

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New insights into Moyamyoa a complex cerebrovascular disorder affecting children/young adults w/ carotid or CV vessel narrowing; leading to CVA, Sz, HA, TIA, Cognitive Sx. Genetic mutations add to succeptibility (RNF213, ACTA2, DIAPH1, HLA). DIfficult to Dx vs Atherosclerosis.… https://t.co/LqFcU0xO3J https://t.co/CileSRAZgU
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SOCS1 Insufficiency - a Rare Inborn Error of Immunity Lancet Rheumatology has published a population study of the rare suppressor of cytokine signalling 1 (SOCS1) insufficiency - an inborn error of immunity affecting the negative regulation of cytokine and growth factor… https://t.co/I0muoIk5GL https://t.co/jbcuAZivci
Dr. John Cush @RheumNow( View Tweet )

Diagnoses via Immune ‘Fingerprints’

Science and researchers at Stanford Medicine have reported the use of Mal-ID (machine learning for immunological diagnosis) to analyze B and T cell receptors sequences from human blood, showing the ability to predict health status (healthy vs diseased) and discriminate between distinct

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Risk Prediction Modeling in MDA5 Dermatomyositis Patients with Melanoma differentiation-associated gene 5 (MDA5) positive dermatomyositis (DM) are complicated and prone to interstitial lung disease, poor prognosis, and a high mortality. A new study suggests a risk prediction… https://t.co/v20ZCVZUQE https://t.co/GmWWQDpWUU
Dr. John Cush @RheumNow( View Tweet )
SLE subphenotypes predisposed by distinct genetic risk loci. Multicenter 10 yr genotyping study on 1462 SLE pts (56% w/ lupus nephritis & 43% not LN) found significantly higher polygenic risk scores (PRS); significant LN variants included HLA, TNFAIP3, BLK, & STAT4.… https://t.co/5igpgtdE1U https://t.co/5KOXRThzlk
Dr. John Cush @RheumNow( View Tweet )
SLE subphenotypes predisposed by distinct genetic risk loci. Multicenter 10 yr genotyping study on 1462 SLE pts (56% w/ lupus nephritis & 43% not LN) found significantly higher polygenic risk scores (PRS); significant LN variants included HLA, TNFAIP3, BLK, & STAT4.… https://t.co/zvYGct9aqG https://t.co/obgkHbXNWA
Dr. John Cush @RheumNow( View Tweet )

Weak Data (1.24.2025)

Dr. Jack Cush reviews the news and journal reports from RheumNow.com, and features Dr. Charity Dean, the Keynote speaker at RheumNow Live 2025, and why she is an inspiration.

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