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
CCN6 IL2RA NFKBIL1 LBR SPTB BLNK TRAPPC2 EPB42 MVK CD79A IL36RN COMP STAT3 IL2RB TGFB3 MEFV IL12A-AS1 CASP10 MLX MMP13 SLCO2A1 COL2A1 COL2A1 ASAH1 IGHM COL2A1 APOE HNF4A COL2A1 ADA2 PTPN22 MMP14 NOD2 CD247 BTK SCARB2 COL2A1 GLA UMOD CCR1 COL11A2 LRBA CCR6 COMP EXT1 IL6 RREB1 KLRC4 COL11A1 PTPN22 PSTPIP1 HNF1B SAMHD1 HLA-C COL11A2 LRP6 GPR101 COL2A1 RAG1 KIF7 DCLRE1C NOD2 CTLA4 NLRP3 HPRT1 ABCG8 HGD MMP13 HLA-DRB1 NLRP3 SH3KBP1 SLC37A4 TF CCN6 ZNF687 GJB2 IL2RA PFKM AIP FASLG TREX1 HLA-B MATN3 ASPN TNFRSF1A C4A COL2A1 MYH14 UBAC2 FAS ARVCF ACP5 EXT2 PRG4 AEBP1 MTHFD1 ANKRD55 PTPN22 TFR2 GCH1 GJB6 COL9A1 COL11A2 PTPN22 SPP1 RNASEH2B TRAPPC2 OCRL TREX1 LRRC8A GBA COL1A1 LMX1B ACAN GP1BB TLR4 ANK1 COMP UFD1 SLC12A3 NLRP3 FAS HGD IL12A SEC61A1 PHEX COPA HPGD IRF5 FCGR2B TRPV4 PSMB9 WIPF1 CTLA4 CAV1 MVK HLA-DRB1 ATP7B MUC1 COL9A1 ACAN ATP7B EPCAM DNASE1L3 CLCNKB LMNA MMP2 IL10 IL12B RASGRP1 PTPN2 COMT COL2A1 STAT4 SLC37A4 GNAS MIF HLA-DRB1 WAS STAT4 RNF168 CLCN7 JMJD1C IL23R MEFV G6PC CFI ERAP1 F8 PSTPIP1 GHR HLA-B HIRA PRPS1 ADAR DNAJB11 MEFV PTPN2 IL10 ANKH IFIH1 STAT4 COL5A1 FRZB HPGD KIF22 TBX1 CIITA CD79B IGLL1 IRAK1 IL2RB MATN3 COL9A2 COL9A3 TNFRSF11B COMP HLA-B STAT4 PADI4 MATN3 HJV COL2A1 SMAD3 F9 TRPS1 UFSP2 RAG2 COL1A1 MEFV COL5A1 ANKRD55 SLC40A1 SLC4A1 SPTA1 FBN1 BTK RNASEH2C DNASE1 CANT1 TBX1 PHEX CD247 TCF3 PSMB4 PIK3R1 AGA CD244 COL5A2 LEMD3 FGFR3 RNASEH2A ACAN HPRT1 ANKH SEC24C GDF5 SLC22A4 UMOD HPRT1 TRPV4 HPGD BTK FAS COL9A3 UFSP2 ZMPSTE24 PTPN22 LACC1 HPRT1 NLRP3 HNF1B HOXD10 PRKCD SLC26A2 COL9A2 SMAD3 FCGR2A CCN2 CLCN7 COL3A1 ASAH1 NLRP12
Protein Mutations 4
A147T N363S R620W V600E