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


HP:0001369: Arthritis
Genes 263
MEFV COL2A1 NLRP3 COL1A1 COL5A1 HLA-DRB1 STAT4 MLX GPR101 IL2RA CLCN7 IL10 KLRC4 SCARB2 NOD2 MUC1 PTPN22 FGFR3 ABCG8 IL12A COPA FASLG SLC12A3 LRRC8A MATN3 COMP OCRL LACC1 IRAK1 RNASEH2B SLC37A4 ZMPSTE24 SPTB MMP13 IL12A-AS1 AGA PSTPIP1 ERAP1 SH3KBP1 TRPV4 CD79B LBR SMAD3 SPTA1 DNASE1L3 HLA-C UFSP2 TGFB3 TBX1 COL2A1 ANKH EPCAM COL2A1 NLRP3 ATP7B PTPN22 IFIH1 CLCNKB MTHFD1 HIRA SLC40A1 MVK TRPS1 GCH1 ANK1 HOXD10 UFD1 COL2A1 CD79A COL11A2 RNASEH2A HPRT1 LRBA FRZB SLC22A4 HGD BLNK PSMB9 GDF5 TCF3 KIF7 GHR HGD CCN6 FAS HLA-B LMNA ACAN CIITA JMJD1C ACAN TRAPPC2 PRG4 ADAR FCGR2A UMOD GNAS KIF22 HPRT1 AEBP1 CD244 CFI MEFV C4A COL9A2 CAV1 IL2RA UBAC2 PTPN22 FCGR2B NLRP3 RAG1 CD247 MATN3 IL23R DCLRE1C LRP6 COL9A3 LMX1B COL11A2 HLA-B SEC24C CLCN7 ADA2 BTK C1R GBA TF MMP13 ANKH PHEX COL2A1 SEC61A1 COL9A2 HLA-DRB1 SLC4A1 SLCO2A1 UFSP2 HNF1B F9 PIK3R1 GLA MMP2 COL3A1 COMP CTLA4 TLR4 COL9A3 COL1A1 ASAH1 STAT4 COL9A1 HPRT1 IL10 GJB6 CD247 COL5A2 CANT1 IL2RB BTK LEMD3 RASGRP1 CASP10 AIP ASPN COMT ACP5 FBN1 SLC26A2 MVK COMP STAT4 ARVCF WAS EPB42 NLRP12 UMOD CCN6 ZNF687 PFKM PTPN2 SLC37A4 PTPN22 TNFRSF1A HNF4A RNASEH2C TFR2 COL5A1 TREX1 COMP PSMB4 DNASE1 DNAJB11 EXT1 NOD2 BTK APOE NLRC4 TRPV4 TBX1 PRKCD COL2A1 F8 TREX1 COL2A1 MYH14 PRPS1 SMAD3 IL36RN HPGD ANKRD55 C1QA SAMHD1 COL11A2 MATN3 EXT2 PHEX RREB1 CCR6 RAG2 ANKRD55 CCN2 HJV MEFV IL12B IRF5 FAS CCR1 COL11A1 STAT4 NFKBIL1 PSTPIP1 COL9A1 TRAPPC2 ACAN G6PC HLA-DRB1 COL2A1 SPP1 IL2RB MMP14 HPGD PADI4 GP1BB RNF168 PTPN22 COL2A1 WIPF1 NLRP3 HPRT1 PTPN2 IGHM FAS GJB2 HPGD STAT3 IGLL1 MEFV IL6 ATP7B HNF1B HLA-B MIF
Protein Mutations 4
A147T N363S R620W V600E