SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02038751

Developed by Shray Alag, 2019.
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 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