SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02725632

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Sodium Channel Splicing in Obstructive Sleep Apnea (SOCS-OSA)

This study is designed to test whether SCN5A mRNA processing is altered in OSA patients, which may contribute to their increased arrhythmic risk, and whether processing of SCN5A mRNA is modulated by CPAP treatment. Specific aims: 1. Compare sodium channel splicing variants in mild, moderate, or severe OSA patients at baseline to at 1 month after CPAP treatment. In addition, the baseline splicing variants of SCN5A in the OSA patients will be compared to an age-matched control group. 2. Hypoxia-associated upstream regulators of SCN5a mRNA splicing, Hypoxia-inducible factor 1-alpha (HIF-1α), RNA Binding Motif Protein 25 (RBM25) and LUC7-Like 3 Pre-MRNA Splicing Factor (LUC7L3), will be examined in OSA patients before and after 1 month of CPAP treatment.

NCT02725632 Sleep Apnea Syndromes
MeSH: Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive
HPO: Apnea Obstructive sleep apnea Sleep apnea

1 Interventions

Name: CPAP

Description: The patients on CPAP treatment will be followed-up for 1 month.

Type: Device

OSA


Primary Outcomes

Measure: The levels of sodium channel splicing variants that are related to the severity of OSA, change from baseline to one month after CPAP treatment.

Time: Four weeks

Secondary Outcomes

Measure: The levels of potassium channels that are related to the severity of OSA, change from baseline to one month after CPAP treatment.

Time: Four weeks

Purpose: Diagnostic

Allocation: Non-Randomized

Parallel Assignment


There are 3 SNPs

SNPs


1 E28A

The full length SCN5A mRNA (E28A) was decreased by 24.7% in patients with CHF compared to control. --- E28A ---


2 E28C

Three truncated SCN5A mRNA splicing variants were identified (denoted variant B (E28B), variant C (E28C), and variant D (E28D)). --- E28C ---

Among them, E28C and E28D abundances were increased 14.2 fold and 3.8 fold respectively in CHF patients compared to controls. --- E28C ---


3 E28D

Three truncated SCN5A mRNA splicing variants were identified (denoted variant B (E28B), variant C (E28C), and variant D (E28D)). --- E28C --- --- E28D ---

Among them, E28C and E28D abundances were increased 14.2 fold and 3.8 fold respectively in CHF patients compared to controls. --- E28C --- --- E28D ---



HPO Nodes


HPO:
Apnea
Genes 227
MKRN3 CEP104 GPHN TACO1 SNORD115-1 SOX9 TMEM67 TCTN3 ABCA3 AHI1 NDUFS7 AMER1 PDE6D PSAP ACADSB TMEM237 PDHA1 MYO9A PET100 ZNF423 NADK2 RPS6KA3 KIAA0586 TMEM216 SLC5A7 GBA IPW PWRN1 TCIRG1 PEX13 CHAT HMGCL NDN NDUFA2 NDUFA4 TSPYL1 ACY1 GPR101 NEB NDUFA9 NDUFA10 ZC4H2 COQ2 COLQ TRIP13 NDUFB8 GDNF MECP2 AHDC1 NDUFS1 NDUFS2 NDUFS3 SNORD116-1 NDUFV1 NDUFS4 MKS1 NDUFS8 CHRNE NDUFV2 KIAA0753 TWIST1 SLC52A3 BMP2 NEK1 FBN1 DST FBP1 CEP120 PLAA RNF125 NDUFA12 BRAF CLCN7 TECPR2 CCDC47 BTD NFIX SURF1 GLRA1 SCN2A SCN4A BUB1 VAMP1 BUB1B ARL13B NPAP1 SNX10 GLUL HRAS PEX5 HYLS1 CC2D2A KCNQ2 SYT1 RARS2 KIAA0556 PLCB4 FGFR3 GNAI3 FGFR2 PWAR1 HERC2 SLC52A2 TMEM231 PIBF1 PHOX2B CPLANE1 DNA2 BRAT1 D2HGDH TCTN1 SDHA ALPL COL3A1 HSPD1 NPHP1 DPAGT1 COL5A1 LIAS HSPG2 SCO2 TCF4 SLC25A20 FOXRED1 MAGEL2 COL13A1 RPGRIP1L NDUFAF5 OFD1 GNE HTRA2 NDUFAF2 CISD2 SFTPB PTF1A WFS1 INPP5E SH3BP2 CEP290 NDUFAF3 SLC19A3 TMEM138 LAMB2 COX15 ARMC9 SYT2 AIP TMEM107 RET RUNX2 IDS CPT2 GABBR2 IDUA SKI ECHS1 CREBBP OPA1 SLC2A1 EDN1 TOE1 ARCN1 EDN3 NDUFA11 KIF7 MKRN3-AS1 MTFMT CRYAB NDUFA13 SLC6A9 LIFR LIPT1 ARL3 TNFSF11 ATP6 DKK1 COX1 COX2 COX3 FARS2 SLC18A3 ASCL1 SLC25A1 ND1 ND2 ND3 ND4 ND5 ND6 SLC6A5 CEP41 B9D1 FLCN PLPBP TRPV4 TRNF NDUFAF6 TRNH LTBP3 TRNK TRNL1 NGLY1 SNAP25 CTNNB1 TBR1 TRNQ TRNS1 TRNS2 BUB3 TRNV TRNW KAT6B CTSD CEP57 PCCA PCCB CSPP1 AGRN TNXB SNRPN EP300 PCK1 ATP5F1A PRNP RAI1 SOD1 TCTN2
Obstructive sleep apnea
Genes 28
HRAS SLC5A7 BMP2 TRPV4 CHAT PLCB4 FGFR3 GNAI3 SYT2 SNAP25 COL13A1 IDS IDUA SKI DNA2 MYO9A CREBBP AGRN CCDC47 SLC18A3 AHDC1 NFIX SLC25A1 EP300 EDN1 ARCN1 SH3BP2 VAMP1
Sleep apnea
Genes 70
COL3A1 MKRN3 SNORD115-1 COL5A1 BMP2 TCF4 MAGEL2 COL13A1 DKK1 BRAF GNE MYO9A CCDC47 SLC18A3 ASCL1 NFIX SLC25A1 NADK2 SH3BP2 RPS6KA3 VAMP1 NPAP1 HRAS SLC5A7 IPW PWRN1 FLCN LAMB2 SYT1 TRPV4 CHAT NDN PLCB4 FGFR3 GNAI3 LTBP3 FGFR2 SYT2 NGLY1 SNAP25 AIP PWAR1 CTNNB1 RET TSPYL1 HERC2 RUNX2 SLC52A2 GPR101 IDS PHOX2B IDUA SKI DNA2 COQ2 COLQ CEP57 CREBBP AGRN AHDC1 SNRPN EP300 EDN1 SNORD116-1 ARCN1 RAI1 SOD1 TWIST1 MKRN3-AS1 SLC52A3