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A Polygenic Model for Still's Disease
Adult-onset Still's disease (AOSD) is systemic autoinflammatory disorder of unknown etiology. It is considered among the febrile autoinflammatory etiologies.
Abstract 1876: Developed a machine learning model w/ #SDoH covariates to accurately identify patients with SLE and ESRD in NIH All of US dataset
@RheumNow #ACR24 https://t.co/TLDSiBZZPs
Akhil Sood MD AkhilSoodMD ( View Tweet)
A#2528
Hes1/Piezo1 Pathway - role in osteocyte response to mechanical stimulus
Yoda1 - Piezo1 agonist shown to help fx healing in mice
Piezo1 decrease in GIOP
Basic sci research shows activation of pathway promotes mechanical stress response, decr GIOP
#ACR24 @RheumNow
Eric Dein ericdeinmd ( View Tweet)
A#2530
ANA reactive CD4 cells: elevated B cell help activation in SjD
Unique autoreactive T cell cluster in SSc shows CD4+ TRAIL+ IFN type I - unique to SSc
Leads to decrease activation of APCs, decrease CD4 T effector fxn
@RheumNow #ACR24 https://t.co/4JnA3SpVM8
Eric Dein ericdeinmd ( View Tweet)
Now we have GWAS, we are getting polygenic risk scores for RA, and we can see what disease risks cluster with RA risk.
RA genetic risk clusters with risk for:
type 1 diabetes
thyroiditis
multiple sclerosis
What draws these diseases together?
#ACR24 ABST1365 @RheumNow https://t.co/28gU1nBEUG
David Liew drdavidliew ( View Tweet)
#1689: race-neutral 🫁 function equations in SSc improve equity:
🔹 Race-specific equations underestimate disease severity in Black patients.
🔹 Switching to race-neutral reclassified 45% of Black patients to more severe, 16% of White patients to less severe
@RheumNow #acr24 https://t.co/BfK2PsCMX5
Caoilfhionn Connolly CaoilfhionnMD ( View Tweet)
#2282
🔬 Personalised Approach to TNFi in RA
📊 N=50👇; 43 responders
🔑 Findings
💥TNFR2 rs1061622 polymorphism linked to TNFi response
💥 MR/RR alleles ⬆️ 10X odds non-response v. MM allele (OR = 10.1,p=0.04)
🎯Genotyping may guide personalized RA therapy.
#ACR24 @RheumNow https://t.co/MQKZUCEPxj
Caoilfhionn Connolly CaoilfhionnMD ( View Tweet)
Navigating Positive ANA: Leveraging AI for better triage
Abstract 1526: Markus et al. developed a machine learning model to predict progression to SLE, utilizing diagnoses, meds, procedures, and labs collected 2 years before and 5 years after +ANA.
@RheumNow #ACR24 https://t.co/2zzSH8Pb0e
Links:
Akhil Sood MD AkhilSoodMD ( View Tweet)
What is my risk of developing SLE?
Abstract 0843 highlights a predictive model that accurately classifies SLE risk using genetics, lifestyle, and environmental factors. Model 3 (genetics + environment + lifestyle) performed the best compared to models 1 and 2.
@RheumNow #ACR24 https://t.co/sk9oG0OY3W
Akhil Sood MD AkhilSoodMD ( View Tweet)
#0066
🧬Epigenetics, Gut Microbiota & RA
🔬 110 RA patients v 110 controls
🦠 Collinsella abundance a/w DNA methylation changes (PRHOXNB, TBC1D22A) in RA, correlating with disease activity.
💡❔Role of gut microbiota & epigenetic markers as RA biomarkers
#ACR24 @RheumNow https://t.co/yZn0KkRpE6
Caoilfhionn Connolly CaoilfhionnMD ( View Tweet)
Abstr#0647
Toronto Lupus Clinic finds pericarditis in 20% of #SLE inception cohort, often with skin, heme, MSK, & renal involvement. Linked to younger age, White race, +SSB, & lower ACR/EULAR scores
- Tx: GC, HCQ, AZA
@RheumNow #ACR24
Akhil Sood MD AkhilSoodMD ( View Tweet)
A study in difficult-to-treat (D2T) ankylosing spondylitis (AS) reveals distinct characteristics in patients, including: - Higher BMI - Increased comorbidities - Presence of EAMs - HLA-B27 positivity is linked to higher odds of being D2T, highlighting potential genetic… https://t.co/XcShdxSwhm
Antoni Chan MD (Prof) synovialjoints ( View Tweet)
Hypophosphatasia:
🦴Inherited disorder of metabolism with low tissue nonspecific alkaline phosphatase (TNSALP)
🦴Impaired bone mineralisation
🦴Accumulation of pyrophosphate
🦴1/100,000-300,000
🦴6 main forms
@RheumNow #ACR24
Mrinalini Dey DrMiniDey ( View Tweet)
#ACR24 Ab#0771
ARID5B - transcription factor controls pathologic inflammatory fibroblast
ARID5B: RA risk locus on GWAS, also link to SLE, Graves
Binds to histone editors to epigenetically regulate fibroblast state
ARID5B deletion incr inflamm response, overexpr decr
@RheumNow https://t.co/ebKnX1uTuO
Links:
Eric Dein ericdeinmd ( View Tweet)
Role of X chromosome in autoimmune disease?
SLE increased in Klinefelter (XXY), decreased in Turner’s (XO)
X chromosome inactivation with Xist
Inductively transgenic expression of Xist in male mice induces autoantibodies
Year in Review #ACR24 Bridges
@RheumNow https://t.co/M88f0v0kpe
Links:
Eric Dein ericdeinmd ( View Tweet)
Late-onset axSpA (LOS) is more likely to have peripheral arthritis. but less HLA-B27 & +FHx of AS/SpA. Portugese study of 2165 axSpA pts. 273 LOS (Sx onset >45 yrs; mean 51yrs; 55% men) had less B27 (51% vs 65%), +FHx (8% vs 14%), inflam LBP (81% vs 88%), Uveitis (13% vs 20%)… https://t.co/DgRUt1ejxT https://t.co/dGX2bfKhnK
Dr. John Cush RheumNow ( View Tweet)
Gut microbiome changes linked to onset of RA
Changes in the make-up of the gut microbiome are linked to the onset of clinically evident rheumatoid arthritis in those at risk of the disease because of genetic, environmental, or immunological factors, suggests research published… https://t.co/gUgYLOKrI0 https://t.co/d75NmKup2U
Dr. John Cush RheumNow ( View Tweet)
171 SSc pts w/ hand Xrays and US found 20% w/ Joint involvement. Active Synovitis & tenosynovitis predicted by CRP>10mg/L (p = 0.013), fibrotic tenosynovitis on US (p = 0.005), anti-RNA polymerase III antibodies (p = 0.043) https://t.co/OIornA9sAA https://t.co/yXyX5k2yqD
Dr. John Cush RheumNow ( View Tweet)
Scleroderma registry enrolled SSc pts w/o ILD. Incident ILD occurred in 199/969 (21%) pts over median 2.4yrs. Late onset SSc-ILD (>7yr from Raynauds) occurs 32% less. These pts were more White, w/ arthritis & RNA-polymerase III Abs, but have similar ILD Progression (vs… https://t.co/zdL4OPEPhi https://t.co/wl9XmsCHIE
Dr. John Cush RheumNow ( View Tweet)
Systematic review suggests (although not provn) that audiovestibular dysfunction may be from APS. Anti-phospholipid & HSP-70 Abs found 25-33% w/idiopathic sudden sensorineural hearing loss,. ACL Abs seen in up to 27% w/ sensorineural hearing loss https://t.co/GTcLoM0SCZ https://t.co/afFntYnPPG
Dr. John Cush RheumNow ( View Tweet)
