SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) rs165599 (2) rs2200733 (2) rs1150226 (2) rs4646 (2) rs3798220 (2) rs3813929 (2) rs25487 (2) rs10830963 (2) rs2472677 (2) rs2281135 (2) rs4986893 (2) rs3211938 (2) rs8050136 (2) rs1801131 (2) rs855791 (2) rs5219 (2) rs4646437 (2) rs2228570 (2) rs2070744 (1) rs1017783 (1) rs4986938 (1) rs2297201 (1) rs377637047 (1) rs2298771 (1) rs1799724 (1) rs7799039 (1) rs7041 (1) rs7586970 (1) rs8175347 (1) rs1799853 (1) rs1799732 (1) rs6190 (1) rs9344 (1) rs3918242 (1) rs7549785 (1) rs3796529 (1) rs10835211 (1) rs3570920 (1) rs1998199 (1) rs2274333 (1) rs78408340 (1) rs28363170 (1) rs2987983 (1) rs833069rs (1) rs41524547 (1) rs12529 (1) rs1042522 (1) rs11958940 (1) rs34743033 (1) rs13058338 (1) rs2043211 (1) rs5082 (1) rs6739405 (1) rs4958351 (1) rs6296 (1) rs3761624 (1) rs13333226 (1) rs179008 (1) rs4802703 (1) rs547154 (1) rs7521902 (1) rs867186 (1) rs641738 (1) rs2540923 (1) rs2297480 (1) rs1672717 (1) rs4869676 (1) rs10163409 (1) rs4869675 (1) rs236114 (1) rs6165 (1) rs700518 (1) rs11615 (1) rs3025039 (1) rs11795404 (1) rs3816527 (1) rs999737 (1) rs10836235 (1) rs1256049 (1) rs27072 (1) rs614367 (1) rs12434438 (1) rs137852620 (1) rs3853445 (1) rs35874116 (1) rs3747158 (1) rs1799930 (1) rs20432111 (1) rs5068 (1) rs1310182 (1) rs7604448 (1) rs20455 (1) rs1042714 (1) rs3114018 (1) rs2269273 (1) rs6269 (1) rs1042711 (1) rs2269272 (1) rs861529 (1) rs18011131 (1) rs9340799 (1) rs2235046 (1) rs316019 (1) rs10995190 (1) rs1260326 (1) rs4570625 (1) rs1042718 (1) rs2250656 (1) rs731236 (1) rs2307227 (1) rs41524745 (1) rs6841581 (1) rs1049353 (1) rs244072 (1) rs13208321 (1) rs35463555 (1) rs1052533 (1) rs3918226 (1) rs61747728 (1) rs4073 (1) rs904627 (1) rs2295190 (1) rs2053044 (1) rs10153820 (1) rs754203 (1) rs547987105 (1) rs2562582 (1) rs2494732 (1) rs619824 (1) rs8176528 (1) rs1360780 (1) rs833061 (1) rs16147 (1) rs72552763 (1) rs9679162 (1) rs2280964 (1) rs7975232 (1) rs1726866 (1) rs10813831 (1) rs6504950 (1) rs806380 (1) rs6856901 (1) rs45511401 (1) rs573562920 (1) rs3210140 (1) rs887829 (1) rs7221412 (1) rs628031 (1) rs20417 (1) rs2687133 (1) rs7579240 (1) rs174535 (1) rs679620 (1) rs2060793 (1) rs806377 (1) rs1800629 (1) rs66554220 (1) rs1800624 (1) rs3750920 (1) rs1042522s (1) rs10246939 (1) rs2550946 (1) rs2279744 (1) rs909253 (1) rs2071559 (1) rs1024582 (1) rs10930214 (1) rs13387042 (1) rs17601696 (1) rs2046210 (1) rs8065080 (1) rs4604006 (1) rs2002555 (1) rs757110 (1) rs2910164 (1) rs1061325 (1) rs4950928 (1) rs10994336 (1) rs11548193 (1) rs73049 (1) rs9457827 (1) rs1883112 (1) rs17782313 (1) rs12459419 (1) rs150018775 (1) rs708272 (1) rs2275163 (1) rs12762549 (1) rs10941679 (1) rs699947 (1) rs2895795 (1) rs2697153 (1) rs45500792 (1) rs30461 (1) rs550842646 (1) rs2067085 (1) rs1051931 (1) rs333 (1) rs3853839 (1) rs956572 (1) rs4900442 (1) rs3755166 (1) rs324015 (1) rs271924 (1) rs3758673 (1) rs3758674 (1) rs11572080 (1) rs4151667 (1) rs894278 (1) rs10859871 (1) rs2294918 (1) rs933226 (1) rs9657182 (1) rs571312 (1) rs20715592 (1) rs12201199 (1) rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) rs2248949 (1) rs222797 (1) rs1643649 (1) rs4803455 (1) rs2853564 (1) rs780094 (1) rs2231137 (1) rs6434222 (1) rs3825942 (1) rs112735431 (1) rs751402 (1) rs9701796 (1) rs1202167 (1) rs1202168 (1) rs1202169 (1) rs12472215 (1) rs4311 (1) rs2279238 (1) rs3766404 (1) rs7349683 (1) rs3781727 (1) rs1800450 (1) rs7157609 (1) rs529802001 (1) rs2257401 (1) rs3817198 (1) rs1217414 (1) rs1045485 (1) rs2278392 (1) rs2476601 (1) rs7993418 (1) rs13181 (1) rs4673 (1) rs2097432 (1) rs324011 (1) rs1079598 (1) rs1800566 (1) rs1800682 (1) rs603965 (1) rs993607 (1) rs1790349 (1) rs1044396 (1) rs3742376 (1) rs6592052 (1) rs9332377 (1) rs16111115 (1) rs11559024 (1) rs1149222 (1) rs11870474 (1) rs25331 (1) rs2929116 (1) rs2929115 (1) rs7961953 (1) rs2242480 (1) rs4532 (1) rs222747 (1) rs105173 (1) rs2165241 (1) rs1800795 (1) rs2075606 (1) rs11648486 (1) rs35874116rs (1) rs4795541 (1) rs2282679 (1) rs7853758 (1) rs1504982 (1) rs1176713 (1) rs11249433 (1) rs12467815 (1) rs10524523 (1) rs4880 (1) rs12760457 (1) rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


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
Conditions
  1. IPF
  2. Idiopathic Pulmonary Fibrosis
Interventions
  1. Other: Computer-assisted telephone interview
  2. 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
Conditions
  1. Rheumatoid Arthritis
Interventions
  1. 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 269
PADI4 AEBP1 KLRC4 IL12A-AS1 NLRP3 COL5A1 HLA-DRB1 TGFB3 NTRK1 NLRP3 FCGR2B GBA GJB2 GP1BB TRPV4 PTPN22 NLRP12 SCARB2 LEMD3 SLC37A4 ABCG8 SEC61A1 IL2RB HPRT1 SEC24C TRAPPC2 HLA-B MVK TF STAT4 FGFR3 NLRP3 RREB1 MMP2 COL2A1 FBN1 MMP14 EXT1 CFI APOE HJV ARVCF MLX STAT4 GCH1 ANKH HLA-C COL2A1 TBX1 HGD F9 ACAN HPRT1 LRBA IL2RA UMOD COMP PRPS1 MYH14 GJB6 PRG4 OCRL ADAR UFSP2 MMP13 JMJD1C UFD1 CCR6 ANKH IL6 LMX1B RAG1 HPRT1 PSTPIP1 HNF1B DNASE1L3 MATN3 KIF7 SPP1 G6PC PHEX SPTB PTPN2 LRRC8A COL9A2 PTPN22 CD244 IGHM NLRP3 CD79A IGLL1 MATN3 CD79B PRKCD HOXD10 COMP ACP5 MTHFD1 MIR140 BLNK HLA-DRB1 SLCO2A1 RASGRP1 ANKRD55 CAV1 HLA-B COL5A2 PFKM NLRP3 BTK IL10 PIK3CD GLA COL9A1 SLC4A1 MEFV FCGR2A RNF168 RAG2 COL11A1 PTPN2 GDF5 AIP COL1A1 COL5A1 SLC12A3 SLC22A4 FASLG MEFV CD247 SH3KBP1 EXT2 COL2A1 F8 CLCNKB DNASE1 MEFV STAT3 IL2RA TRPS1 HPGD CLCN7 IFIH1 BTK HLA-DRB1 KIF22 ANKRD55 NOD2 TRAPPC2 WIPF1 ACAN MATN3 HNF4A FAS HGD ASPN RNASEH2A COMT TBX1 HPGD ASAH1 LACC1 DNAJB11 PSMB9 MEFV FAS FAS COL2A1 UBAC2 LMNA LBR FRZB MUC1 SLC40A1 STAT4 STAT4 ADA2 TRPV4 SMAD3 CD247 HLA-B ACAN PHEX RNASEH2C SLC37A4 VPS13A SPTA1 ASAH1 MYD88 MIF ACP5 PSMB4 TLR4 TNFRSF11B IRAK1 CCN2 MMP13 CLCN7 CCN6 COPA ZNF687 ERAP1 TREX1 IL2RB TNFRSF1A COMP CTLA4 C4A COL2A1 TREX1 BTK UFSP2 IL12B AGA RNASEH2B DCLRE1C ATP7B LRP6 ANK1 FOXP3 HNF1B COL1A1 WAS KNSTRN PTPN22 COL11A2 ZMPSTE24 MVK COL9A1 TCF3 IL12A COL11A2 PSTPIP1 GNAS NOD2 COMP SAMHD1 IRF5 COL9A3 IL10 CCR1 SLC26A2 HIRA GHR PIK3R1 COL9A2 HPRT1 EPCAM TFR2 COL9A3 IL36RN COL2A1 EPB42 COL11A2 GPR101 COL3A1 CCN6 ATP7B IL23R NFKBIL1 SMAD3 CTLA4 PTPN22 UMOD CIITA HPGD CASP10 PTPN22 CANT1
Protein Mutations 4
A147T N363S R620W V600E