SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs9526240

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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

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.

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


HPO Nodes


HP:0002104: Apnea
Genes 318
TWIST1 LIFR SCN2A GBA NALCN CCDC47 NDUFS1 TMEM231 NDUFAF6 LIPT1 NEFH CTSD GLRA1 GLUL VAMP1 TMEM237 TRPV4 NDUFB8 TCTN3 AFF4 NGLY1 FGFR3 TCF4 SLC6A9 NDUFV1 NDUFS8 PLPBP RPS6KA3 NEB GABRG2 NADK2 KIAA0586 CTNNB1 ECHS1 NDUFA13 PWAR1 SURF1 PCCB PHOX2B ECHS1 NDUFS7 AMER1 TMEM138 PRPH GNE GPR101 LTBP3 SH3BP2 HSPG2 DNA2 NPHP1 ACY1 CSPP1 BRAF PET100 CHRNE PLCB4 NDUFAF2 SLC5A7 B9D1 ND1 BMP2 SLC39A8 COLQ NPAP1 TRIP13 CC2D2A GPR101 GABBR2 PHOX2B P4HTM RARS2 HRAS SCO2 NDUFS2 RET HTRA2 CEP57 USP7 COQ2 INPP5E COL13A1 TMEM107 ZC4H2 TCTN2 TMEM67 PCCA KATNIP NEK1 CRYAB COQ2 AIP KIF5A NDUFAF5 C2CD3 ATP6 GDNF SKI SFTPB NFIX BUB3 GNAI3 RPGRIP1L FLCN ARL3 SCN4A KIAA0586 SLC25A20 RERE TCIRG1 INPP5E NDN TBR1 LIFR NDUFV1 TNFSF11 TCTN1 NDUFA11 TSEN54 DST FOXRED1 ASCL1 CEP120 SLC18A3 ASCL1 SNX10 CEP290 CISD2 CPLANE1 CHAT MYO9A TOE1 CLCN7 TSPYL1 SOX9 MKS1 SDHA AHI1 ARL13B FBP1 TMEM216 HERC2 FARS2 MAGEL2 TECPR2 EDN1 NONO CEP104 ND5 CSPP1 LARP7 LIAS KIAA0586 ZNF423 SNORD115-1 RPGRIP1L SLC19A3 NDUFAF2 TMEM237 MKRN3-AS1 MYO9A RBM10 SCN5A TACO1 TMEM216 CEP57 MECP2 PLCB4 ATN1 GNE AGRN FAM149B1 KCNQ2 INPP5E FGFR3 CEP41 SNAP25 SYT1 GPHN INPP5E CC2D2A MCCC1 EP300 SLC2A1 NDUFA12 PIGT ARMC9 NDUFV2 NDUFS8 SRPX2 UNC80 GNPTAB SNRPN BRAT1 FGFR3 POGZ ACADSB GRIN2A SURF1 PTF1A FGFR2 D2HGDH TMEM237 KIF7 PLAA CEP120 KIAA0753 PEX5 AHI1 PCGF2 DMPK TSPYL1 BTD GBA CEP41 PCK1 SOD1 DKK1 ATP5F1A SYT1 RNF125 NDUFA2 SLC6A5 WFS1 CEP290 CREBBP IDS MKRN3 PRNP EDN3 TMEM67 RPGRIP1L IDUA ARCN1 SLC25A1 PDHA1 KAT6B BUB1B SCN4A DPH1 GSN GNAI3 FBP1 SNORD116-1 PRPS1 COX15 HMGCL PIBF1 NDUFS3 NDUFS2 ND4 NDUFS4 PEX13 OPA1 CHAT NDUFA10 TRNL1 NDUFS1 TMEM216 ND3 SLC5A7 ALPL CPT2 SLC18A3 TRNK TRNW MTFMT ND6 PWRN1 BUB1 ND2 USP7 NDUFA2 NACC1 BRAT1 CSPP1 PIBF1 AHDC1 NDUFAF3 FGFR3 PSAP DNA2 AHDC1 OFD1 RUNX2 NDUFA4 TRNV RET NGLY1 FBN1 DPAGT1 TCF4 MAGEL2 AHI1 MECP2 IPW SKI PDHA1 CPLANE1 ABCA3 RAI1 FGFR2 SYT2 NDUFA9 BTD LAMB2 PRMT7 HYLS1 MKS1 TECPR2 IDUA HSPD1 PDE6D PLAA FXR1 ARMC9 COL3A1 DCTN1