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Report for Clinical Trial NCT02038751

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

The Phenotyping and Genotyping of Taiwanese Patients With Obstructive Sleep Apnea

The growing evidence showed that the OSA is a heritable complex genetic disease where the genetic basis contributed the development of OSA and its sequel. The phenotyping of OSA include high level and intermediate level. The former indicates the AHI, and later includes craniofacial morphology, ventilator control, obesity, and sleepiness vulnerability. Many studies tried to determine the association of candidate genes with OSA through association studies. However, the results were conflicting. We identified 37 candidate genes involved in six biologic pathways of OSA reported in previous literatures, including oxidative phosphorylation, cell signaling, apoptosis, cellular adhesion and motility, cell cycle, and cytokine/chemokine. To investigate the association between phenotype and genotype of OSA, we conducted this cross-sectional study by recruiting the patients of moderate-severe OSA (index proband) and their first and second-degree family members, and friends and their family members (control family) and using candidate genes reported in the literature and whole genome SNP array for genotype approach.

NCT02038751 Sleep Apnea, Obstructive
MeSH: Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive
HPO: Apnea Obstructive sleep apnea Sleep apnea


Primary Outcomes

Description: Phenotypes assessment by PSG, craniofacial image, Hypercapnic ventilatory response testing, psychomotor vigilance task, MSLT, blood biochemistry testing, abdominal MRI, and 24 hr ambulatory BP monitor Family aggregation assessed by family-based study design (1. to compare risk of OSA between index and control proband; 2. to compare risk between index proband with more than one families suffering OSA and without; 3. to calculate inter-generation and intra-generation association index of AHI)

Measure: Family aggregation of OSA and its phenotype

Time: within the first half year after enrollment

Description: Genotypes assessed by candidate genes identification or whole genome SNP array Phenotypes assessment by PSG, craniofacial image, Hypercapnic ventilatory response testing, psychomotor vigilance task, MSLT, blood biochemistry testing, abdominal MRI, and 24 hr ambulatory BP monitor Association assessed by linkage study and association study

Measure: Association between phenotype and genotype of OSA

Time: within the first half year after enrollment

Time Perspective: Cross-Sectional

Family-Based


There is one SNP

SNPs


1 rs9526240

Also, the whole genome SNP array identified candidate genes associated with OSA as C-reactive protein (C-RP) and glial cell line-derived neurotrophic factor (GDNF) in European Americans and rs9526240 within serotonin receptor 2a (HTR2A) in African Americans.



HPO Nodes


HPO:
Apnea
Genes 319
ACY1 KCNQ2 SNORD116-1 ND5 PLAA CPLANE1 PRPH NDUFA4 PDE6D TRNW ECHS1 ND6 COX15 DNA2 KIF7 CHRNE TRNV ND4 NDUFS8 ARL3 SLC2A1 NDUFAF3 TCTN1 MCCC1 NDUFS3 GPR101 MKRN3 GLRA1 CEP290 GBA CSPP1 SOD1 SURF1 GSN COLQ FBP1 PCK1 ASCL1 ATN1 MYO9A NDUFS4 AGRN TMEM216 TRNQ ASCL1 GABBR2 SLC19A3 GDNF SLC25A20 NADK2 SLC18A3 HMGCL SCN4A RPGRIP1L IDS SLC39A8 NGLY1 LTBP3 CC2D2A PRPS1 NDUFS7 MECP2 HTRA2 TECPR2 FGFR3 INPP5E FGFR2 TSEN54 BRAF PWRN1 FGFR3 ND2 DKK1 MKS1 WFS1 INPP5E PLPBP EDN3 RPGRIP1L SURF1 PCCB AMER1 TRIP13 CCDC47 CEP57 PHOX2B CLCN7 PTF1A CTNNB1 BTD TRNF PLCB4 BTD NDUFS2 EP300 OFD1 BUB1B OPA1 PSAP FLCN TMEM67 GABRG2 SYT1 NDUFS2 COQ2 KAT6B BUB3 NDUFS1 TWIST1 HYLS1 AHDC1 CEP104 TMEM216 RET RUNX2 ZNF423 TCTN3 SNORD115-1 RAI1 CSPP1 PIBF1 TSPYL1 PDHA1 MKS1 TSPYL1 MYO9A FAM149B1 TMEM237 NDUFAF2 BRAT1 ND6 SCN2A NDUFS1 IDUA AIP SKI GNE ACADSB CEP41 ND5 ECHS1 GPHN LAMB2 SLC5A7 CTSD KIF5A ALPL RPS6KA3 NONO HERC2 LIFR BRAT1 NDUFA11 TMEM138 CC2D2A SNRPN LIFR TMEM67 TNFSF11 SRPX2 KIAA0586 ATP5F1A NDUFA2 RPGRIP1L FGFR2 KIAA0586 FGFR3 TRNH SNAP25 RET RARS2 ND3 IPW MAGEL2 SCN5A SLC6A5 BUB1 INPP5E NPAP1 TCTN2 LARP7 FGFR3 B9D1 NDUFV1 SLC52A3 TRNL1 DNA2 PRNP ND4 NGLY1 CEP120 PEX5 SDHA INPP5E P4HTM ARCN1 SLC18A3 NDUFAF6 ABCA3 NDUFA2 ARMC9 COQ2 GRIN2A TMEM237 DCTN1 SFTPB TACO1 HSPD1 KIAA0753 NDUFAF2 TRNS2 CEP290 SCN4A SNX10 CEP41 PIBF1 NDUFA10 NDUFV2 CHAT CISD2 NDUFAF5 FARS2 TRNS1 KIAA0556 NDUFB8 CHAT RNF125 TMEM107 TCF4 NDUFV1 TRPV4 TOE1 PHOX2B IDUA GNAI3 TRNL1 EDN1 VAMP1 TMEM231 CPT2 DPAGT1 ND1 LIPT1 HSPG2 NDN COX1 MECP2 FBN1 KIAA0586 MAGEL2 CEP120 TMEM216 MKRN3-AS1 SLC25A1 SLC5A7 RERE PCGF2 NDUFA12 AHI1 NDUFA13 ND1 GLUL TMEM237 SH3BP2 D2HGDH SCO2 PWAR1 TCF4 AHI1 ARMC9 SLC52A2 GNAI3 NDUFA9 NEK1 TRNW COX3 RBM10 SLC6A9 LIAS GPR101 AHI1 PLCB4 TRNK COL13A1 COX2 SOX9 MTFMT PDHA1 TECPR2 SYT2 NFIX HRAS PLAA POGZ NPHP1 DST PET100 TCIRG1 PCCA NEB GBA CEP57 CPLANE1 FOXRED1 TBR1 CRYAB ATP6 CREBBP SKI PEX13 ARL13B COL3A1 GNE ZC4H2 CSPP1 FBP1 BMP2 NDUFS8 NEFH
Obstructive sleep apnea
Genes 35
AGRN SLC18A3 IDS SYT2 CCDC47 NFIX HRAS NGLY1 SLC25A1 POGZ PCGF2 DNA2 SNAP25 CHAT SH3BP2 IDUA FGFR3 EP300 TRPV4 CREBBP SKI DNA2 IDUA PLCB4 SLC5A7 GNAI3 AHDC1 COL13A1 NONO ARCN1 EDN1 VAMP1 BMP2 ATN1 MYO9A
Sleep apnea
Genes 96
SNRPN SNORD116-1 NDN CCDC47 PRPH SRPX2 CEP57 MAGEL2 FGFR2 MKRN3-AS1 SLC25A1 FGFR3 CTNNB1 RERE PCGF2 DNA2 SNAP25 RET IPW MAGEL2 SH3BP2 EP300 PWAR1 TCF4 NPAP1 SLC52A2 FLCN LARP7 FGFR3 GABRG2 SLC52A3 SYT1 GPR101 DNA2 NGLY1 PLCB4 COQ2 GPR101 MKRN3 TWIST1 AHDC1 COL13A1 P4HTM ARCN1 SOD1 GSN COLQ ASCL1 ATN1 MYO9A AGRN RUNX2 COQ2 GRIN2A NADK2 DCTN1 SLC18A3 IDS SYT2 SNORD115-1 RAI1 NFIX HRAS NGLY1 LTBP3 PRPS1 TSPYL1 POGZ CHAT IDUA FGFR3 AIP FGFR2 TCF4 TRPV4 GNE BRAF PWRN1 FGFR3 CREBBP SKI PHOX2B IDUA DKK1 COL3A1 LAMB2 SLC5A7 GNAI3 GNE RPS6KA3 NONO HERC2 EDN1 VAMP1 BMP2 NEFH