SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02720822

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

A Pragmatic, Phase III, Multi-site, Double-blind, Placebo Controlled, Parallel Arm, Dose Increment Randomised Trial of Regular, Low Dose Extended Release Morphine for Chronic Refractory Breathlessness

Breathlessness is an overwhelming symptom affecting tens of thousands of Australians every day. For many people, it persists even when all the underlying causes have been optimally managed (chronic breathlessness). In these circumstances, it often occurs at rest or with minimal exertion. Evidence from a number of clinical studies suggests that a small, regular dose of morphine helps to reduce safely the sensation of breathlessness. However, it is not well established which patients derive more benefit and what is the net clinical effect of this treatment (weighing benefits and harms). This is a phase III, multi-site, randomised, double-blind, placebo-controlled trial with patients with chronic obstructive pulmonary disease (COPD) and severe chronic breathlessness which will explore several important questions: - Are regular, low doses of morphine at four possible doses over 3 weeks more effective than placebo at improving breathlessness? - Does increasing the dose in people who already are experiencing some benefit provide even greater reduction in worst breathlessness? - Does the medication have any effect on daily activity and quality of life? - What are the common or serious side effects of this intervention? - Does the benefit from the medication outweigh the side effects it produces? - Are there specific characteristics of people who are more likely to receive benefit from extended release morphine? Participants will receive once daily extended release morphine (plus laxative, docusate with senna), or placebo (placebo laxative) in addition to their usual medication for up to 3 weeks at increasing doses. Participants will have a medical interview and physical examination to collect some general health information, and baseline measurements including; daily activity, symptoms, and quality of life. A small amount of blood may be required to check eligibility. Further blood samples may be taken at week 1 and 3 to enable testing on how individuals respond to opioids, further consent will be obtained for these samples. Data on benefits, side effects, and medical care will be collected during comprehensive weekly visits. Participants will also fill out a simple diary twice daily for weeks one to three of the study, and for one day each week during an optional 6 month extension stage. The outcome of this study may enable better management of symptoms and activity in people COPD with medicines that are shown to be effective and safe.

NCT02720822 Chronic Obstructive Pulmonary Disease Dyspnea
MeSH: Lung Diseases Lung Diseases, Obstructive Pulmonary Disease, Chronic Obstructive Dyspnea
HPO: Abnormal lung morphology Chronic obstructive pulmonary disease Dyspnea Obstructive lung disease Respiratory distress

5 Interventions

Name: Placebo

Description: Treatment with placebo is given as one double-blind capsule in the morning.

Type: Drug

Placebo Morphine Sulfate (0, 0, 8 mg) Morphine sulfate (0, 8, 8 mg) Morphine sulfate (0, 8, 16 mg)

Name: Morphine Sulfate

Description: Treatment with sustained-release morphine sulfate is given as one double-blind capsule in the morning.

Type: Drug

Morphine Sulfate (0, 0, 8 mg) Morphine sulfate (0, 8, 8 mg) Morphine sulfate (0, 8, 16 mg) Morphine sulfate (8, 8, 8 mg) Morphine sulfate (8, 8, 16 mg) Morphine sulfate (8, 16, 16 mg) Morphine sulfate (8, 16, 24 mg) Morphine sulfate (16, 16, 16 mg) Morphine sulfate (16, 16, 24 mg) Morphine sulfate (16, 24, 24 mg) Morphine sulfate (16, 24, 32 mg)

Name: Plus laxative (Docusate with senna)

Description: If patients are taking morphine, a laxative will be offered. This applies whatever the dose of morphine being taken (8mg, 16mg, 24mg or 32 mg).

Type: Drug

Morphine Sulfate (0, 0, 8 mg) Morphine sulfate (0, 8, 8 mg) Morphine sulfate (0, 8, 16 mg) Morphine sulfate (8, 8, 8 mg) Morphine sulfate (8, 8, 16 mg) Morphine sulfate (8, 16, 16 mg) Morphine sulfate (8, 16, 24 mg) Morphine sulfate (16, 16, 16 mg) Morphine sulfate (16, 16, 24 mg) Morphine sulfate (16, 24, 24 mg) Morphine sulfate (16, 24, 32 mg)

Name: Plus placebo laxative

Description: If the patients are taking placebo, a placebo laxative will be offered.

Type: Drug

Placebo Morphine Sulfate (0, 0, 8 mg) Morphine sulfate (0, 8, 8 mg) Morphine sulfate (0, 8, 16 mg)

Name: FitBit charge HR (Accelerometer)

Description: A Fitbit will be worn by patients during week 1 and week 3.

Type: Device

Placebo Morphine Sulfate (0, 0, 8 mg) Morphine sulfate (0, 8, 8 mg) Morphine sulfate (0, 8, 16 mg) Morphine sulfate (8, 8, 8 mg) Morphine sulfate (8, 8, 16 mg) Morphine sulfate (8, 16, 16 mg) Morphine sulfate (8, 16, 24 mg) Morphine sulfate (16, 16, 16 mg) Morphine sulfate (16, 16, 24 mg) Morphine sulfate (16, 24, 24 mg) Morphine sulfate (16, 24, 32 mg)


Primary Outcomes

Description: Rated on a 0-10 numerical rating scale (NRS). Measured at baseline, Stage1-3 (daily diary) and Stage 4 (weekly diary). The primary endpoint is: The difference between morphine sulphate 8mg and placebo (end of week1) The difference of morphine sulphate 16 mg and placebo (end of week 1)

Measure: Change from baseline worst breathlessness intensity over the previous 24 hours

Time: Week 1

Description: Difference from the baseline in the number of steps per day measured using the Fitbit(Charge HR). Measured at baseline, end of week 1, and end of week 3. The primary endpoint is: The difference between morphine sulphate 8mg and placebo (end of week 1) The difference between morphine sulphate 16mg and placebo (end of week 1) Comparison between baseline and end of week 3

Measure: Change from the baseline in the number of steps per day

Time: Week 3

Secondary Outcomes

Description: Measured at baseline and at the weekly visit for the randomisation phase, and then at the study exit in order to assess the theoretical risk of opioids worsening respiratory failure. Stages 1-4.

Measure: Change from baseline end-tidal carbon dioxide

Time: Up to week 15

Description: Measured at baseline and at the weekly visit for the randomisation phase, and then at the study exit in order to assess the theoretical risk of opioids worsening respiratory failure. Concomitant use of oxygen will be recorded. Stages 1-4.

Measure: Change from baseline pulse oximetry

Time: Up to week 15

Description: Rated on a 0-10 numerical rating scale (NRS). Measured at baseline, weeks 1-3 (daily diary) and stage 4 (weekly diary).

Measure: Change from baseline intensity of breathlessness "average"

Time: Up to week 15

Description: Rated on a 0-10 numerical rating scale (NRS). Measured at baseline, weeks 1-3 (daily diary) and stage 4 (weekly diary).

Measure: Change from baseline distress from breathlessness over the previous 24 hours

Time: Up to week 15

Description: Chronic Respiratory Questionnaire - Dyspnoea and Mastery Subscales. Baseline and end of Weeks 1-3.

Measure: Change from baseline perceived-impact of breathlessness

Time: Up to week 3

Description: Rated on the Modified Medical Research Council Breathlessness Scale (mMRC). Measured at baseline and at the conclusion of the study.

Measure: Change from baseline functional impact of breathlessness

Time: Up to week 15

Description: Measured using the Fitbit(Charge HR). Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline sleep minutes

Time: Week 3

Description: Measured using the Fitbit(Charge HR). Given in number of movements per night (e.g. rolling over). Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline sleep activity

Time: Week 3

Description: Measured using the Fitbit(Charge HR). Difference from baseline in the number of active minutes per day. Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline in activity levels

Time: Week 3

Description: Measured using the Fitbit(Charge HR). Difference from baseline number of calories spent per day. Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline total energy expenditure

Time: Week 3

Description: Measured using Australian-modified Karnofsky Performance Status (AKPS). Baseline, Stage1, Stage2, Stage3 and Stage 4.

Measure: Change from baseline performance status

Time: Up to week 15

Description: Measured using Barthel Index. Baseline and Stage 4.

Measure: Change from baseline activities of daily living

Time: Up to week 15

Description: Rated on a 4 point Likert scale. Measured at baseline, weeks 1-3 (daily diary) and stage 4 (weekly diary).

Measure: Change from baseline in sleep quality

Time: Up to week 15

Description: Thirty (30) participants at the Sydney and Adelaide sites will be invited to undertake a simple, non-invasive home sleep study using the ResMed ApneaLink Plus device. Baseline and Stage3.

Measure: Change from baseline in objective sleep testing

Time: Week 3

Description: Up to ten (10) participants will also undergo two (baseline and Stage 1) in-laboratory overnight sleep studies in Sydney and Adelaide.

Measure: Change from baseline Polysomnography

Time: Week 3

Description: Twenty (20) participants in Adelaide and Sydney. Baseline and on day 2 and 7 of the first week in an office-based simulator - AusEd.

Measure: Change from baseline Driving ability

Time: Week 3 + 2 days

Description: The baseline blood samples will be analysed to detect the presence of UGT2B7*2 and *28 polymorphisms.

Measure: Pharmacogenetic opioid profile - Number of participants with UGT2B7*2 and *28 polymorphisms

Time: Baseline (1 day)

Description: The baseline blood samples will be analysed to detect the presence of P-glycoprotein polymorphism (ABCB1 5SNPs in a haplotype block)

Measure: Pharmacogenetic opioid profile - Number of participants with P-glycoprotein polymorphism (ABCB1 5SNPs in a haplotype block)

Time: Baseline (1 day)

Description: The baseline blood samples will be analysed to detect the presence of 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism

Measure: Pharmacogenetic opioid profile - Number of participants with 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism

Time: Baseline (1 day)

Description: The baseline blood samples will be analysed to detect the presence of Mu receptor (A118G) polymorphism

Measure: Pharmacogenetic opioid profile - Mu receptor (A118G) polymorphism

Time: Baseline (1 day)

Description: In a subset of 55 participants, morphine peak plasma concentrations will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine Peak Plasma Concentration [Cmax]

Time: Week 1

Description: In a subset of 55 participants, morphine AUC will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine Area Under the Curve (AUC)

Time: Week 1

Description: In a subset of 55 participants, M6G Peak Plasma Concentration will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-6-glucuronide (M6G) Peak Plasma Concentration [Cmax]

Time: Week 1

Description: In a subset of 55 participants, M6G AUC will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-6-glucuronide (M6G) Area Under the Curve (AUC)

Time: Week 1

Description: In a subset of 55 participants, M3G Peak Plasma Concentration will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-3-glucuronide (M3G) Peak Plasma Concentration [Cmax]

Time: Week 1

Description: In a subset of 55 participants, M3G AUC will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-3-glucuronide (M3G) Area Under the Curve (AUC)

Time: Week 1

Description: Baseline and study completion. To explore whether longer term morphine treatment is associated with decreased levels of testosterone.

Measure: Change from baseline serum testosterone level

Time: Week 15

Description: Rated on a Lickert Scale. Baseline, weeks 1-3 (daily diary), Stage 4 (weekly diary): Includes constipation, anxiety, appetite, nausea, vomiting, drowsiness, difficulty thinking clearly, problems passing urine, itch, other symptoms.

Measure: Adverse Effects

Time: Up to 15 weeks

Description: Measured using the Edmonton Symptoms Assessment Scale (ESAS)

Measure: Change from baseline in concurrent symptoms

Time: Up to 15 weeks

Description: Rated using the Hospital Anxiety and Depression Scale (HADS). At baseline, completion of randomization stage and study exit.

Measure: Change from the baseline anxiety and depression

Time: Up to Week 15

Description: Participant-rated 7 point scale of the perception of their change, specifically their improvement since the commencement of the study. Measured at the end of Stages 1-3 and conclusion.

Measure: Change in baseline global impression of change

Time: Up to 15 weeks

Description: Measured with EQ-5D-5L questionnaire. Baseline, Stages 1-3, Stage 4, conclusion.

Measure: Change from baseline health-related quality of life

Time: Up to 15 weeks

Description: Measured with the COPD Assessment Test (CAT) Baseline, Stages 1-3, Stage 4 and conclusion.

Measure: Change from baseline health-status in COPD

Time: Week 3

Description: Asked at the end of week 1 and at the conclusion/drop-out of the study. A 3-point Likert scale will be used.

Measure: Blinded-patient preference to continue the treatment [3-point Likert Scale]

Time: Up to week 15

Description: Scored using the Zarit Burden Interview (ZBI) 12 item short-form questionnaire. Baseline, end of weeks 1-3, stage 4.

Measure: Change from baseline caregiver Impact

Time: Up to week 15

Description: From randomisation to 28 days post treatment or death (whichever is the shorter period). Estimated based on all health-care contacts including length of hospitalizations, emergency department visits, DRG codes, community health visits, GP and community nurse visits, outpatient visits and date of death. These participant level data allow within trial modeling using bootstrapping methods of replicates for costs and consequences of alternative strategies, allowing for covariance between costs and effects. Incremental net monetary benefit and cost-effectiveness acceptability curves will be estimated at potential threshold values for an additional responder.

Measure: Economic Evaluation - Cost per responder

Time: Up to week 4

Description: Evaluation using the Subjective Opioid Withdrawal Scale (SOWS) for 3 consecutive days. After the completion of the study (Weeks 1-15).

Measure: Opioid Withdrawal

Time: Up to week 15 + 3 days

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 A118G

Pharmacogenetic opioid profile - Mu receptor (A118G) polymorphism. --- A118G ---

The baseline blood samples will be analysed to detect the presence of Mu receptor (A118G) polymorphism. --- A118G ---



HPO Nodes


HPO:
Abnormal lung morphology
Genes 786
NHLRC1 EPHB4 MKKS ERBB2 SLC29A3 ERCC2 ABCA3 DGCR6 GLDN ERCC3 LZTR1 ABL1 ESS2 RNF168 ERF ZMPSTE24 MANBA AICDA PYROXD1 MARS USP9X SLC35C1 MAT2A TRAIP ACP5 NCF1 ACTA1 ACTA2 ETFA ETFB KIAA0319L ETFDH NAA10 CCNO TCIRG1 EVC MMP21 MCM4 IKZF1 EWSR1 CD46 KLHL41 TMEM173 RRAS ACVRL1 RREB1 ARID1A ADA COLQ IL17F MECP2 KLRC4 IFT43 MYSM1 NME8 MEFV RYR1 STN1 TBC1D24 BAP1 CDC45 GREB1L CITED2 FANCB ARID1B SAMD9L FBN1 PANK2 SFTPA2 KITLG MBTPS2 MGP AARS2 ZMYND10 CIITA FCGR3A ARHGAP31 AGA JAG1 AGT AGTR1 MIF MITF GPC4 SCN9A SCN10A SCNN1A SCNN1B WDR35 EMG1 SCNN1G CC2D2A AK2 SFTPA1 AKT1 NOP10 FGFR1 FGFR3 IFT80 PWAR1 PRKAG2 DOCK6 LTBP4 RSPH9 ALOX12B FOXF1 ALPL CRTAP FOXE3 FOXC2 FOXE1 FLI1 FLNA FLNB FRAS1 CLCA4 FBLN5 FMO3 CCDC22 LAMTOR2 OFD1 SFTPB SFTPC CTC1 PUF60 SGCG SGSH KLHL40 IFT81 SLC35A1 ITGA8 IKBKG ELP1 FUZ SLC34A2 BIRC3 XIAP LIPN CHD7 APOE AP3B1 FAS FCN3 NHP2 FASLG EPG5 MSN SDR9C7 WDR19 MST1 DNAI1 NPHP3 PIEZO2 TNFSF11 ARSB SLC11A1 G6PC3 ARVCF DYNC2LI1 MTHFD1 ASAH1 SLC18A3 SLC25A1 RFXANK SLCO2A1 DLL3 FSHR SNAI2 SMARCA4 RSPO2 SMARCB1 FLCN SMARCC2 SMARCD2 SMARCE1 FOXP1 SMN1 C11ORF95 CARD11 SMPD1 MESP2 NR5A1 FUCA1 ATM NGLY1 SNAP25 TBC1D23 MCTP2 SNRPN MUSK ATP5F1A GAA H19 AFF4 INVS MASP2 SON DNAH11 SOS1 SOS2 SNORD115-1 TRAF3IP2 MYD88 SOX10 SOX11 STK36 MYH3 INTU MYH7 SPAG1 MYH11 EOGT MYL2 DIS3L2 GALNS MYLK RIPK1 SPINK1 KIF1A MYO5A CHST14 TNFSF12 RTEL1 ERAP1 MYO9A JAGN1 MYOD1 NADK2 SDCCAG8 B2M PKD1L1 NAGLU GAS8 MAP3K20 GATA2 GATA4 GATA6 FADD GBA PWRN1 SRP54 NBN DRC1 SIK1 NCF2 NCF4 SLC46A1 CCND1 BCL2 NDN TNFRSF11A BCL6 NEB GDF1 BCR GPKOW GFI1 STAT1 CFB STAT3 STAT4 BGN STAT5B SLC52A3 BLM IFIH1 DNAAF3 STK11 MALT1 NEK1 BMPR2 STX1A GLA GPC3 GLB1 BRAF BRCA2 SULT2B1 NFE2L2 GLE1 GLI1 NFIX GLI3 NFKB1 BTK NFKB2 NFKBIA HES7 BUB1 VAMP1 BUB1B VPS13A LRRC56 HYLS1 KIAA0556 C4A TRPV3 ATP11A BCL10 TAF1 BMPER HERC2 STRA6 MYRF TAP1 TAP2 TAPBP AP3D1 GNS CFAP410 NOTCH1 TBX1 NOTCH2 NOTCH3 TBCE GP1BB PNP SPINK5 TBX5 TBX6 NPM1 CACNA1C TCF4 NIPAL4 TCF3 CARMIL2 NRAS GPR35 DOK7 ROR2 DDR2 NUMA1 NUP88 HGSNAT BAZ1B CASP8 OAS1 CASP10 MUC5B IL17RC RIPK4 OCRL SYT2 SPECC1L CAV1 RUNX2 SLC7A7 NSMCE3 CBL TERC CHAMP1 SERPINH1 TERT NXN DICER1 NR2F2 POLR3A TFRC TGFB1 GRIP1 TGFB2 TGFB3 UNC119 TGFBR1 TGFBR2 SLC22A18 LMOD3 TGM1 CORO1A GTF2E2 CD3D CD3E CD3G GTF2I CD8A DPP9 CD19 MS4A1 DCLRE1C ZNF341 NKX2-1 IL12A-AS1 CD28 TK2 GUSB BTNL2 SCARB2 TLR4 DNAI2 TNFRSF13C LRRC8A TNFRSF13B CD79A CD79B CD81 PRKN PARN HABP2 PAX3 PAX6 SPIDR LRBA TNFRSF1A TNFRSF1B BUB3 DNAAF1 KAT6B AGRN HACD1 TP53 ATP6V0A2 BMP15 PCNT HELLS TPM2 TPM3 CFH PIGN HFE TPP2 SCN11A POU6F2 CFAP300 HLA-B PDGFRA PDGFRB HLA-DPA1 ORC6 HLA-DPB1 CCDC114 CTSC HLA-DRB1 CFTR TRPS1 PEPD BLNK SLC5A7 PEX1 CLEC7A SOX18 PEX13 CHAT TSC1 TSC2 LRRC6 WNT4 TRIP13 TRIP11 LYST CHRM3 TRIP4 ZNHIT3 CHRNA1 PGM3 CHRND CHRNG HIRA RNU4ATAC TYK2 SLC2A10 CRELD1 SERPINA1 ICOS CLCN7 HOXD13 PIK3CA PIK3CD PIK3R1 HPGD EDARADD RAB3GAP2 HPS1 UFD1 A2ML1 NPAP1 SNX10 HRAS PKHD1 PSMC3IP GTF2H5 UMPS CCR1 UNG CCR6 IL17RA DGCR8 PLCG2 PLEC PLG SERPINF2 PLOD1 PLP1 KDM6A NIPBL CCDC151 ALG12 COG4 PML COL1A1 PMM2 COL2A1 COL3A1 VHL SLC25A24 COL5A1 COL5A2 COL6A1 HSPG2 COL6A2 COL6A3 PIGL PSAT1 EXOSC9 COL11A2 MAGEL2 COL13A1 DONSON WAS COMT CCDC103 WIPF1 TAPT1 ADAMTS3 ADAMTS2 CLIP2 DLL4 NSD2 NELFA MAP3K8 POLA1 WNT3 POLE GNPTAB EFEMP2 WRN IRF8 WT1 PORCN MINPP1 NABP1 GTF2IRD1 IDUA CFI CR2 LGI4 SP110 CREBBP CFAP298 ZAP70 CRKL PPP1CB DNAH1 IFNGR1 PPP2R1B BCL11B CSF2RA CSF2RB SEC24C IGH LACC1 NEK8 IGHM IL21R SETBP1 RBPJ LPIN2 MPLKIP PRKAR1A NKX2-5 CYP4F22 PRKCD CCN2 CTLA4 IGLL1 PRKDC PRKG1 MAPK1 IKBKB IL1RN CEP57 CCDC65 IL2RA IL2RG HYDIN IL6 IL7R CYBA PRPS1 CYBB MKRN3 IL10 IL12A TCTN3 PRSS1 IFT140 ZBTB16 SAMD9 PRTN3 PLVAP PSAP INHBA ABCA12 TMEM94 MCIDAS RIPPLY2 IFT172 PIEZO1 INPPL1 CYBC1 RNF113A KIAA0586 VPS33A INSR CD55 IPW IRF1 PTPN22 IRF5 TTC25 NHLRC2 DNAL1 KEAP1 ITGA3 ITGA7 PTEN BCOR ACE NEK9 ZEB2 ZBTB24 PTH1R MRPS22 PHGDH SNORD116-1 MKS1 HELLPAR ITPR1 FAM111B NSDHL DNAJB13 TMEM260 JAK3 DNAAF5 FREM2 TIMM8A FAM20C PTPN11 CEP120 RNF125 ALMS1 CLPB RSPH1 TINF2 TECPR2 WASHC5 FGF20 CXCR4 KCNJ6 HPS4 DHCR7 DHCR24 NECTIN1 IL21 DKC1 ALDH18A1 FIP1L1 CDT1 DNAH5 DNASE1L3 RAB27A IL23R KIF11 CCDC40 DNMT3B FOXP3 KRAS SLC12A6 RAF1 RAG1 DGCR2 RAG2 FAT4 EPM2A EVC2 B3GLCT ITCH RAPSN RARA RARB RSPH4A RASA2 WDR34 NUP107 USB1 DSG1 RB1 DSP DOCK8 DYNC2H1 SLC26A2 DNAAF4 ASCC1 DVL3 LAMA2 AGGF1 FARSB WDR60 LAMB2 RELA RELB REN DPF2 LBR ARMC4 REST RET LCK RFC2 WRAP53 GPC6 CCNQ ECM1 SELENON TBL1XR1 RFX5 RFXAP GMNN JMJD1C LEP CCDC39 LEPR LETM1 LFNG EDNRB ADGRG6 MKRN3-AS1 CEP55 RIT1 TTC7A DNAAF2 SLC25A22 RMRP LIFR MFAP5 RASGRP1 MLXIPL LIG4 LIMK1 RSPH3 KMT2D FAM13A LMNA EGFR CDCA7 TRIM28 RCBTB1 VANGL1 CCBE1 LOX ARID2 IER3IP1 ALG9 HPS6 RLIM IRAK4 TTC21B EHMT1 ELANE TRPV4 UBAC2 PIH1D3 ALOXE3 EIF2AK4 ELN LTBP3 RPGR DCTN4 SH2D1A ENG CSPP1 TBL2 EP300 COQ7 RPL10 SMAD3 SMAD4
Chronic obstructive pulmonary disease
Genes 28
CYBB PTPN22 NCF2 MYH7 NCF4 SERPINA1 CTLA4 MMP1 PRTN3 GLA WAS RREB1 COMT SEC24C WIPF1 ARVCF HLA-DPA1 HLA-DPB1 DNAAF4 JMJD1C TBX1 NFKB1 CYBC1 NCF1 UFD1 HIRA GP1BB CYBA
Dyspnea
Genes 309
VAPB EPHB4 TACO1 COX20 SOX9 LDLRAP1 EPOR ERBB4 CHCHD10 ABCA3 MYH11 ZBTB16 MYL2 MYL3 CRLF1 ERF MYLK ATRX HLA-B RTEL1 MAPT MYO9A ORC6 MARS PET100 USP9X MAT2A HLA-DRB1 MATR3 SDCCAG8 CFTR VPS33A ACTA2 ETFA ETFB ETFDH GATA4 SLC5A7 GATA6 GBA HLCS DAO SIK1 CHAT IRF5 IKZF1 TSC1 TSC2 AK9 DBH RPS26 RPS28 ITGA3 ACVRL1 NEB PFN1 COLQ DCTN1 TRIP11 TTN HNRNPA1 NDUFB8 DPM1 CHRNA1 ADCY6 NDUFS2 NAGS CHRNB1 PGM1 STN1 CHRND TBC1D24 CHRNE STAT5B RNU4ATAC CDC45 EFTUD2 NOD2 SLC52A3 SLC25A3 XYLT1 JAK2 SLC2A10 DNAAF3 NEFH CRELD1 PPARGC1A TUBB4A NEK1 FAM20C SERPINA1 BMPR2 FBN1 KCNA1 FBP1 SFTPA2 GLA CLCNKB ATXN2 KLHL7 FIG4 GLE1 SQSTM1 SURF1 KCNJ6 SCN4A SCN5A VAMP1 CYB5R3 SCNN1A SCNN1B SCNN1G SCO1 SERPING1 FIP1L1 SFTPA1 ATP11A CCR6 ALAS2 FGFR1 PLCB4 GNAI3 CDT1 FGFR2 BMPER GNAS PLEC DMPK TRMT5 DNA2 DNASE1L3 ABCG5 ABCG8 CFAP410 FOXF1 VCL VCP PCSK9 PML FOXE3 PMM2 FOXP3 COL2A1 NPM1 NDUFB11 SCO2 FLNC NPPA FBLN5 PRRX1 TBX4 COL13A1 RAPSN UBQLN2 RARA ANG AIMP2 WAS DSC2 WIPF1 SLC25A4 SH2B3 SFTPB DSP SFTPC LYRM4 PUF60 RRM2B POLG IFT81 DOK7 ANXA11 UBE3B EFEMP2 CNTNAP1 KAT6A NDUFAF3 COX6B1 ARX NUMA1 SLC35A1 DNAJB6 PON1 COX7B LAMA3 PON2 PON3 JPH2 COX8A COX10 LAMB2 LAMB3 OAS1 TWNK CASR LAMC2 APOB MUC5B FASTKD2 ADAMTS13 SYT2 CAV1 POMT1 NABP1 PRRT2 CPT2 PNKD TERC LGI4 TBL1XR1 TERT EDA CREBBP GMNN LDLR COA8 EDN1 NR2F2 STT3B CHMP2B TRAK1 TGFB2 CCNF MMAA TGFB3 ORC1 TGFBR1 TRMU ORC4 TGFBR2 LIFR TARDBP MFAP5 PIGT OPTN OTX2 IFT52 ATP6 DPP9 CSF2RA CSF2RB SLC12A3 FAM13A NKX2-1 AIFM1 SLC18A3 TK2 LOX GYG1 SLC25A1 BTNL2 TBK1 ND1 ISCU SETBP1 ND2 ND3 ND4 ND5 ND6 TREM2 PRKAR1A LRP4 MPC1 TRNE PARN SMPD1 CCN2 TAF15 EIF2AK4 ELN MRPL3 LTBP3 TRNK TRNL1 PRKG1 NGLY1 SNAP25 FUS TRNN CDC6 TRNS1 TNNC1 C9ORF72 POLG2 TRNV TRNW STX16 HBB IL1RN MMAB ENG CSPP1 AGRN HCCS EP300 MUSK UNC13A MMUT MEGF10 GAA ALDH7A1 COQ7 SOD1 SMAD3 MGME1 COX14 EPHA4 PRPH
Obstructive lung disease
Genes 35
CYBB SCNN1A SCNN1B APC SCNN1G PTPN22 NCF2 MYH7 NCF4 SERPINA1 CTLA4 MMP1 PRTN3 GLA WAS RREB1 COMT SEC24C MGP WIPF1 ARVCF HLA-DPA1 HLA-DPB1 DNAAF4 JMJD1C DNASE1L3 TBX1 NFKB1 CYBC1 CFTR NCF1 UFD1 HIRA GP1BB CYBA
Respiratory distress
Genes 143
COL2A1 EPHB4 TACO1 COX20 SOX9 NDUFB11 SCO2 FBLN5 PRRX1 ABCA3 COL13A1 ERF AIMP2 SFTPB SFTPC LYRM4 MAPT MYO9A ORC6 PUF60 PET100 USP9X IFT81 SDCCAG8 UBE3B EFEMP2 CNTNAP1 VPS33A KAT6A NDUFAF3 COX6B1 ETFA ETFB ETFDH SLC35A1 SLC5A7 GATA6 COX7B GBA HLCS COX8A COX10 LAMB2 OAS1 SIK1 CHAT FASTKD2 ADAMTS13 RPS26 SYT2 POMT1 RPS28 ITGA3 CPT2 COLQ LGI4 EDA TRIP11 NDUFB8 CREBBP DPM1 GMNN COA8 ADCY6 NDUFS2 EDN1 NAGS STT3B TBC1D24 CHRNE STAT5B TRAK1 CDC45 EFTUD2 SLC52A3 SLC25A3 MMAA XYLT1 ORC1 SLC2A10 TRMU DNAAF3 ORC4 LIFR TUBB4A FAM20C OTX2 KCNA1 IFT52 FBP1 ATP6 CSF2RA CSF2RB SLC12A3 CLCNKB KLHL7 NKX2-1 AIFM1 SLC18A3 TK2 SLC25A1 SURF1 ND1 SETBP1 ND2 ND3 ND4 VAMP1 ND5 ND6 SCO1 SERPING1 MPC1 TRNE FGFR1 PLCB4 GNAI3 CDT1 TRNK FGFR2 TRNL1 NGLY1 SNAP25 BMPER TRNN CDC6 TRNS1 DMPK TRNV TRNW IL1RN MMAB AGRN HCCS EP300 MMUT MEGF10 ALDH7A1 COQ7 FOXF1 COX14 PMM2 FOXP3