SNPMiner Trials by Shray Alag


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Report for Mutation C242T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 NADPH Oxidase p22phox Polymorphisms and Oxidative Stress in Patients With Obstructive Sleep Apnea

Obstructive Sleep Apnea (OSA) is associated with increased oxidative stress. The major sources of Reactive Oxygen Species (ROS) in the vasculature are the NADPH oxidases. Several polymorphisms related to NADPH oxidase expression or NADPH oxidase activity has been identified. The investigators are going to compare the distribution of the allelic frequencies of A-930G and C242T polymorphisms and their possible relationship with the levels of 8-isoprostanes as a marker of oxidative stress in patients with OSA and in a control group without OSA.

NCT01141829 Sleep Apnea Syndrome Oxidative Stress Single Nucleotide Polymorphism
MeSH:Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive Syndrome
HPO:Apnea Obstructive sleep apnea Sleep apnea

The investigators are going to compare the distribution of the allelic frequencies of A-930G and C242T polymorphisms and their possible relationship with the levels of 8-isoprostanes as a marker of oxidative stress in patients with OSA and in a control group without OSA. --- C242T ---

Sleep Apnea Syndrome Oxidative Stress Single Nucleotide Polymorphism Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive Syndrome DESIGN: CASE-CONTROL STUDY METHODS: We are going to determine the A-930G and C242T p22phox genotypes in patients with OSA and healthy subjects recruited from sleep unit of Son Dureta University Hospital, (Palma de Mallorca, Spain). --- C242T ---



HPO Nodes


HP:0002104: Apnea
Genes 330
TRNF NDUFS7 DKK1 MKRN3-AS1 KIAA0586 CSPP1 PHOX2B OPA1 PRPH CTSD NDUFS1 USP7 CEP104 NGLY1 CPT2 COLQ GPR101 SLC2A1 PIGT VAMP1 TMEM237 PLCB4 EDN1 NDUFAF3 SKI FGFR3 MECP2 PWRN1 TRNL1 CHAT CC2D2A CISD2 RBM10 BUB1 BRAT1 SOD1 SCO2 PLAA PHOX2B MKS1 IDUA RET ND4 NADK2 SCN4A NDUFA9 GBA SLC6A9 CEP290 WFS1 TACO1 INPP5E DPH1 TCTN1 CEP290 RUNX2 CPLANE1 NDUFV1 MKS1 AMER1 TRNK KIAA0586 ASCL1 OFD1 TCF4 GDNF PIBF1 MCCC1 HERC2 TCTN2 GSN ND1 NDUFAF2 HSPD1 NEB GPHN PLCB4 PRMT7 CSPP1 TWIST1 SLC5A7 CLCN7 ASCL1 SFTPB COX2 GNE FOXRED1 AFF4 FAM149B1 DNA2 SURF1 ARCN1 TMEM67 NPHP1 CRYAB HTRA2 PEX5 NDUFS3 KIAA0556 KIF7 TMEM216 FBP1 GNE NDUFA11 ND3 PCGF2 LARP7 MYO9A LIAS AHDC1 FGFR3 TRNQ BUB1B PCCB SRPX2 RPGRIP1L ATP5F1A HSPG2 NDUFB8 CC2D2A GNAI3 TMEM138 SNORD116-1 CEP41 TBR1 IPW GNAI3 PTF1A TMEM107 PLPBP KCNQ2 INPP5E INPP5E TSPYL1 TMEM216 NFIX TRNS1 TMEM67 SLC25A20 NDUFS8 NEK1 NDUFS2 CTNNB1 FBN1 MAGEL2 COQ2 PCK1 FARS2 GABBR2 GPR101 COQ2 NGLY1 GLRA1 NDUFA13 MYO9A TRNL1 KIAA0753 RET FBP1 RNF125 PSAP TMEM237 NDUFS4 MKRN3 BRAF CHRNE PRNP LIFR ATN1 IDUA COL3A1 LAMB2 BMP2 FGFR2 SLC52A2 TECPR2 GABRG2 NDUFA2 TNFSF11 SDHA ZC4H2 NDUFAF2 NDN TCF4 NDUFAF5 B9D1 ND1 TCIRG1 CEP120 C2CD3 TRIP13 SNORD115-1 ARL13B CSPP1 NDUFA12 NACC1 BRAT1 ND6 SNX10 NALCN ECHS1 RARS2 BTD ACY1 SLC6A5 SKI NDUFV2 ND2 SLC5A7 AIP RPS6KA3 PDHA1 CPLANE1 PRPS1 GBA ND5 TSPYL1 DCTN1 MTFMT TRNW COX3 GLUL TSEN54 PLAA LIFR HMGCL DNA2 P4HTM CEP120 UNC80 PDE6D PCCA NDUFS2 SCN2A NDUFA4 TRNH D2HGDH LTBP3 COX1 SCN5A FGFR3 AHI1 NDUFA2 FGFR3 ND5 NDUFAF6 ATP6 ND4 AGRN ZNF423 TRNS2 HRAS SNAP25 COL13A1 RPGRIP1L ALPL MAGEL2 CEP57 NONO TCTN3 SNRPN SH3BP2 TECPR2 SLC25A1 KIAA0586 PWAR1 FGFR2 CCDC47 BUB3 POGZ SLC19A3 FLCN RPGRIP1L KIF5A PDHA1 NPAP1 NDUFS1 PEX13 PET100 ABCA3 TMEM237 NDUFS8 RAI1 ECHS1 TOE1 AHI1 SLC52A3 TRNV SLC18A3 SOX9 SLC18A3 CEP57 TMEM216 DST LIPT1 MECP2 CEP41 ARL3 SYT2 KAT6B GRIN2A NDUFV1 AHDC1 IDS HYLS1 SYT1 ND6 TMEM231 SYT1 SLC39A8 AHI1 SURF1 ACADSB EDN3 TRPV4 INPP5E BTD EP300 RERE ARMC9 ARMC9 CHAT COX15 PIBF1 NDUFA10 CREBBP SCN4A NEFH DPAGT1 TRNW