SNPMiner Trials by Shray Alag


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Report for SNP rs35705950

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Idiopathic Pulmonary Fibrosis Job Exposures Study

A case-control study to investigate whether job exposures are an under-recognized cause of idiopathic pulmonary fibrosis (IPF) using an interview to collect information about previous jobs and a blood test to investigate genetic susceptibility.

NCT03211507 IPF Idiopathic Pulmonary Fibrosis Other: Computer-assisted telephone interview Genetic: Genetic analysis
MeSH: Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Fibrosis
HPO: Pulmonary fibrosis

Gene-environment interaction (for MUC5B rs35705950 and asbestos exposure) odds ratio.. MUC5B rs35705950 and asbestos exposure odds ratio..

Primary Outcomes

Description: estimated using logistic regression for any vs no asbestos exposure and adjusting for age and smoking status

Measure: Association between asbestos exposure and IPF

Time: 2 years

Secondary Outcomes

Description: estimated using logistic regression for categories of cumulative exposure and adjusting for age and smoking status

Measure: Dose-response relationship between asbestos exposure and IPF

Time: 2 years

Description: MUC5B rs35705950 and asbestos exposure odds ratio.

Measure: Gene-environment interaction (for MUC5B rs35705950 and asbestos exposure) odds ratio.

Time: 2 years

2 Factors of ILD in Newly Diagnosed Rheumatoid Arthritis

To determine factors associated with early RA-ILD (which may be asymptomatic). It is planned to recruit all patients with a newly diagnosed RA (symptoms since less than 3 years). In this study, all relevant demographic and clinical data will be collected. All patients will undergo lung function tests and high-resolution CT-scan of the lungs. Blood sample will be collected for measurement of (1) anti-CCP and rheumatoid factor measurement (good clinical practice) and a specific sample for the detection of the MUC5 promoter variant rs35705950. Our aim is thus to identify determinants of RA-ILD in the following population: - Adults aged 18 to 90 years-old - Diagnosis of rheumatoid arthritis (RA) based on ACR-EULAR 2010 criteria - Onset of disease duration at least 1 year and at most 10 years prior to inclusion

NCT04002765 Rheumatoid Arthritis Diagnostic Test: pulmonary function tests
MeSH: Arthritis Arthritis, Rheumatoid
HPO: Arthritis Polyarticular arthritis Rheumatoid arthritis

Blood sample will be collected for measurement of (1) anti-CCP and rheumatoid factor measurement (good clinical practice) and a specific sample for the detection of the MUC5 promoter variant rs35705950.

rs35705950 variant of the MUC5B promoter.

Proportion of patients carrying the variant rs35705950 of the MUC5B promoter.

Detection of the rs35705950 variant for MUC5B promoter Lung assessment (SOC) 1. Lung function tests (standard of care) 1. Dynamic and static volumes (FVC, FEV1, TPC, RV) 2. Lung diffusion capacity for CO (DLCO) 2. Chest Xrays 3. High resolution CT scanner (HRCT) 1. Good clinical practice (INAMI/RIZIV) 2. Including expiratory slices (detection of early air trapping) Primary outcome Detection of an interstitial lung disease associated with RA.

Secondary outcomes 1. Proportion of different ILD subtypes (usual interstitial pneumonia, non-specific interstitial pneumonia, others) 2. Detection of non-ILD lung involvement of RA including: - Rheumatoid nodules - Emphysema - Bronchiectasis not related to an ILD - Bronchiolitis obliterans 3. Proportion of patients carrying the variant rs35705950 of the MUC5B promoter 4. Proportion of patients with anti-CCP antibodies 5. Proportion of patients with a relevant toxic exposure (smoking, drug, occupational or domestic exposure) 4.4 Expected timeline Start of recruitment: 01-July-2019 End of recruitment: 31-Dec-2022 Based on our local recruitment of RA patients, it is expect to recruit 300 patients.

Primary Outcomes

Description: Detection of an interstitial lung disease associated with RA. We define RA-ILD by the presence of reticulations, ground-glass opacity and/or honeycombing at HRCT not explained by another cause (i.e. cardiac disease, infection or neoplasia).

Measure: Presence of an interstitial lung disease

Time: from enrollment of patient to 3 months post enrollment

Secondary Outcomes

Description: usual interstitial pneumonia, non-specific interstitial pneumonia, others

Measure: Proportion of different ILD subtypes

Time: from enrollment of patient to 3 months post enrollment

Description: Non-ILD lung involvement is a composite of the following variables: rheumatoid nodules, emphysema, bronchiectasis and bronchiolitis obliterans

Measure: Proportion of patients presenting with a non-ILD lung involvement of RA

Time: from enrollment of patient to 3 months post enrollment

Description: Proportion of patients carrying the variant rs35705950 of the MUC5B promoter

Measure: rs35705950 variant of the MUC5B promoter

Time: from enrollment of patient to 3 months post enrollment

Description: Proportion of patients with anti-CCP antibodies

Measure: anti-CCP antibodies

Time: from enrollment of patient to 3 months post enrollment

Description: Proportion of patients with a relevant toxic exposure (smoking, drug, occupational or domestic exposure)

Measure: relevant exposure

Time: from enrollment of patient to 3 months post enrollment


HPO Nodes


Rheumatoid arthritis
Genes 28
NFKBIL1 ACP5 PTPN2 LACC1 IL2RB SLC22A4 IL6 HLA-DRB1 PTPN22 CD244 PTPN22 ANKRD55 STAT4 ANKRD55 IL2RB PADI4 PTPN22 IL2RA CIITA STAT4 IL2RA IL10 CD247 PTPN2 CD247 GCH1 MIF DCLRE1C
Pulmonary fibrosis
Genes 80
HLA-DPA1 RCBTB1 PSMC3IP HLA-DRB1 PTPN22 CASP10 POLR3H TERT HLA-DRB1 SP110 HPS4 CLCA4 CCN2 ASAH1 FAM111B TINF2 SFTPA1 MUC5B ATP11A ABCA3 TERT RNF168 KIAA0319L TERT TERT MUC5B RASGRP1 PLEC HLA-DPB1 NUP107 NOP10 NKX2-1 CCR6 THOC2 PRKCD NHP2 DPP9 STX1A RTEL1 TERC HLA-DRB1 DSP FAS DKC1 DCTN4 NR5A1 PARN FAM13A FAS CCR6 TGFB1 CAV1 AP3B1 TERC SFTPC IRF5 BTNL2 CAV1 ALMS1 TERT HPS1 SFTPA2 STN1 SPIDR FASLG CTLA4 RTEL1 SFTPC SFTPA2 BMP15 PARN PRTN3 MRPS22 TINF2 CFTR RNF168 IRF5 FSHR CCN2 TERC
Arthritis
Genes 263
COL5A2 HPGD COL1A1 CANT1 HJV TRPV4 CCR1 HNF1B PTPN2 LACC1 BTK TFR2 HOXD10 CLCN7 COL9A2 PTPN22 MMP2 NLRP3 STAT4 GHR RNF168 TREX1 COL9A3 PADI4 SLC40A1 WIPF1 COL2A1 MMP14 RASGRP1 PRKCD SEC61A1 SLC37A4 COL2A1 HNF1B TBX1 PTPN22 STAT4 MEFV AEBP1 COL2A1 IL2RB HLA-DRB1 HGD PSTPIP1 ANKRD55 FBN1 GBA HPGD CCN6 ANKRD55 FGFR3 NOD2 ACAN COMP HPRT1 AGA IRF5 NLRC4 MUC1 IL12B GNAS HPGD MATN3 CASP10 ASAH1 COMP MYH14 HIRA SLCO2A1 SLC22A4 HLA-B FRZB CD244 PRG4 COL11A2 LMX1B TNFRSF1A ACAN TGFB3 STAT4 COL11A1 IL10 MEFV LRP6 RAG2 IFIH1 TRAPPC2 LBR IL10 COL5A1 IGHM LEMD3 HLA-DRB1 DNASE1 COMP SH3KBP1 NFKBIL1 IL12A-AS1 IL12A ARVCF COL2A1 CLCN7 IL23R KIF7 DNASE1L3 SEC24C IL6 FCGR2A COL9A3 SLC37A4 AIP SPTB HPRT1 GDF5 COL2A1 JMJD1C TCF3 IL2RB COMP HLA-B TRAPPC2 COL5A1 HNF4A F9 COMT UFD1 SMAD3 STAT3 HPRT1 HGD SPTA1 GJB6 ATP7B COL9A1 F8 BLNK PTPN22 APOE UMOD TREX1 MMP13 ZNF687 NLRP3 GJB2 PSMB9 PTPN22 TF CD79B COL2A1 MMP13 LMNA UFSP2 ERAP1 LRBA COPA CCR6 COL9A2 ABCG8 TRPS1 CD247 MIF C1R GP1BB PFKM LRRC8A FAS PHEX UMOD ANKH G6PC FCGR2B COL2A1 CCN6 IGLL1 CAV1 PSTPIP1 NLRP12 KIF22 ANKH SPP1 ATP7B CTLA4 CD79A SLC4A1 RNASEH2B EPCAM FAS NLRP3 CCN2 WAS COL1A1 PSMB4 UFSP2 TLR4 STAT4 MVK ACP5 MATN3 HPRT1 SLC12A3 BTK MTHFD1 ADA2 RAG1 PIK3R1 SCARB2 OCRL ADAR HLA-DRB1 RREB1 COL11A2 RNASEH2C PTPN22 GPR101 IL36RN CIITA C1QA SLC26A2 NLRP3 PHEX RNASEH2A KLRC4 COL2A1 ZMPSTE24 CD247 CFI UBAC2 BTK HLA-B DNAJB11 GCH1 FAS C4A COL11A2 EPB42 PRPS1 IRAK1 EXT2 MEFV MEFV GLA ACAN FASLG MVK MATN3 CLCNKB IL2RA EXT1 ASPN COL3A1 IL2RA TBX1 COL9A1 NOD2 HLA-C COL2A1 ANK1 TRPV4 SAMHD1 PTPN2 SMAD3 MLX DCLRE1C