SNPMiner Trials by Shray Alag


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Report for SNP rs6739405

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Serum Biomarkers for Prediction and Diagnosis of POCD in Elderly Patients Undergoing Cardiac Surgery.

Postoperative cognitive dysfunction (POCD) is a severe complication after surgery. Currently, a complicated battery of neuropsychological tests both before and after surgery with other characteristics-matched population as control are needed for the diagnosis of POCD. This diagnosis is also delayed, which could not be used to screen for high risk patients who may need intervention beforehand. The current trial targeted a surgical population of elderly patients undergoing cardiac surgery under cardiopulmonary bypass (CPB), which is a population of the highest incidence of POCD, to screen for possible predictive or diagnostic biomarkers in the serum for POCD. Myeloid differentiation factor 2 (MD2), also known as lymphocyte antigen 96, is a protein involved in biding lipopolysaccharide with Toll like receptor-4 (TLR4). Recently the investigators have found that increased MD2 expression in the hippocampus of the mice after surgery stimuli. On the other hand, the investigators have reported that cystatin C (CysC) as an endogenous neuroprotective factor for stroke. It may also be involved in endogenous neural protection against POCD. This trial is to investigate whether serum MD2, CysC can be used for prediction and diagnosis of POCD in surgical population. Serum based DNA methylation biomarkers will also be tested for prediction or diagnosis of POCD development. Also in our orevious research, SNPs cites at rs6739405、rs12467815、rs12472215、rs11126727、rs11126731、rs993607 were revealed as possible susceptibility variations for POCD (diagnosed with MMSE only, NCT02084030) in patients undergoing CPB. This study will also test the SNP variations in study populations to varify if one or conbination of morethan one of these varuations can be a risk factor for POCD when diagonosed with NPT.

NCT03610191 Postoperative Cognitive Dysfunction Diagnostic Test: Serum biomarker tests Behavioral: Neuropsychological battery tests Procedure: Cardiac surgery
MeSH: Cognitive Dysfunction
HPO: Cognitive impairment Mental deterioration

Also in our orevious research, SNPs cites at rs6739405, rs12467815, rs12472215, rs11126727, rs11126731, rs993607 were revealed as possible susceptibility variations for POCD (diagnosed with MMSE only, NCT02084030) in patients undergoing CPB.

Our previous clinical trial (NCT 02084030) indicates that, 6 SNP mutations on the CTNNA2 gene (SNPs cites at rs6739405, rs12467815, rs12472215, rs11126727, rs11126731, rs993607) has altered risk for POCD in elderly patients undergoing CPB.

Primary Outcomes

Description: Blood samples will be collected at immediately before anesthesia and tested for MD2/CysC/DAN Methylation marker value.

Measure: Preoperative serum MD2/CysC/DAN Methylation marker/SNPs mutation rates on CTNNA2 gene before anesthesia

Time: Immediately before anesthesia

Description: Blood samples will be collected at immediately after surgery and tested for MD2/CysC/DAN Methylation marker value.

Measure: Postoperative serum MD2/CysC/DAN Methylation marker/immediately after surgery

Time: Immediately after surgery

Description: Blood samples will be collected at 24h after surgery and tested for MD2/CysC/DAN Methylation marker value.

Measure: Postoperative serum MD2/CysC/DAN Methylation marker value at 24 h after surgery

Time: Twenty-four hours after surgery

Description: NPB will be evaluated at 3 time points: 1. one day before surgery. 2. one day before discharge. 3. 3 months after surgery. The NPB includes: 1. Grooved Pegboard Test; 2. Auditory Word Memory Test; 3. Trail Making Test (Part A, Part B); 4. Digit Span Test; 5. Digit Symbol Subtest; 6. Verbal Fluency Test; and 7. Word Recall Test. POCD at discharge or 3 months after surgery will be analyzed as follow: 2 or more tests of the NPB with a Z score over 1.96 or less than -1.96, patient is defined as POCD. And patients that have less than 2 tests with a Z score over 1.96 is defined as no-POCD. Note: the time frame of postoperative NPB test is defined as one day before discharge. It is usually within 5-9 days depending on the hospitalization time for each patient. Since NPB test is time consuming and requires patients at a comfortable state. The investigators chose one day before discharge as many clinical trials regarding POCD reported.

Measure: Neuropsychological battery (NPB) assessment

Time: From one day before surgery to 3 months after surgery


HPO Nodes


Mental deterioration
Genes 462
TIMM8A PRNP GRN SCN9A CSF1R WDR45 RNASEH1 PRKAR1A CHMP2B SCN1A SLC6A1 CYP27A1 ATP1A3 DNAJC13 ND1 OPA1 SNCA QDPR TRNS1 APOL4 CTC1 SNORD118 DRD3 ADH1C PARS2 APOE TYMP GABRB3 BSCL2 CPLX1 FUS LMNB1 ERCC4 GABRA2 AP5Z1 COX2 SCN1A TIMMDC1 SNCA YWHAG TRNQ IRF6 UBA5 GBA DNMT1 PSAP HNRNPA1 APOL2 SCN3A DNAJC6 DNMT1 PDE11A SYN2 ITM2B RAB27A HTT SUMF1 ATP6V1E1 GABRG2 SDHA COX3 GBA2 HEXB WFS1 TYROBP C9ORF72 RRM2B NPC2 SURF1 PNPLA6 NHLRC1 DAOA ERCC6 SCARB2 C9ORF72 CNTNAP2 UBTF HTT RNF216 PDGFRB UCHL1 PRNP HNRNPA2B1 LRRK2 NDUFS2 CYTB MFSD8 TINF2 APP APP CLN3 ATP13A2 PSEN1 ASAH1 ATXN3 SNCAIP BSCL2 DCAF17 NOTCH3 STXBP1 GBE1 AP2M1 GALC ATP6 IDUA HSD17B10 PPT1 JPH3 PSEN1 TTR PODXL PSEN1 APP COX1 PRNP APP COASY CTSD SPG11 GRN PRNP ATP13A2 POLG DCTN1 CHMP2B PPP2R2B SDHAF1 HEXA CST3 TWNK ATP6V0A2 GRN XPA TMEM106B SNCA CSF1R MATR3 PRNP MAPT CHMP2B AMN MAPT ERCC2 COL18A1 APP MAPT CSTB TRNK C19ORF12 MTHFR PSEN1 CP UBQLN2 TREM2 CLN8 PRKN CACNA1B ARSA NR4A2 ATN1 PRDM8 VCP RBM28 PSEN1 FA2H PINK1 PLAU TRPM7 CFAP43 HFE VCP GBA NDUFB8 ATP7B NDUFA6 XPR1 TUBA4A TRAK1 AKT1 SYNGAP1 CHD2 HNRNPA2B1 CERS1 AARS2 CTSF TBP SYNJ1 SERPINI1 MATR3 TRNL1 WWOX GABRB2 MAPT PSAP ABCA7 KCNA2 TRNC ALDH18A1 NOTCH3 MAPK10 PLP1 GRN FTL CHCHD10 TMEM106B TTPA VCP C9ORF72 TIMM8A NUS1 FGF12 PSEN2 FBXO7 LRRK2 HIBCH EEF1A2 PANK2 CUX2 FMR1 PRKAR1B PDGFRB NTRK2 CHI3L1 ND5 MAPT EIF4G1 HEPACAM VPS35 SPG21 GNAS TREX1 CLTC ALDH18A1 EPM2A PDGFRB CHD2 SYNJ1 GBA PRDX1 ATXN2 PRICKLE1 DHDDS RTN4R SLC13A5 ZFYVE26 NRAS POLG SCN8A HNF1A KCNA2 TREM2 TBP HTR2A SQSTM1 WFS1 TREM2 CLN8 PLA2G6 SPAST PRKCG NDUFAF3 RNF216 CLN6 PLA2G6 GDAP2 GBA PSEN1 SUMF1 HTRA1 TARDBP NDP PINK1 MFN2 NECAP1 NHLRC1 VPS13C ATXN7 ND6 PANK2 PSAP GLUD2 PTS GCH1 LRRK2 MECP2 NOS3 FA2H SQSTM1 ATXN2 ARSA TRNK SQSTM1 MAPT GRN APP RBM28 NOTCH2NLC PDGFB TBC1D24 PDE10A KCTD7 TRNV MAPT ACTB MAPT RAB39B TREM2 ROGDI SNCA SLC20A2 MAPT ABCC8 CTNS TARDBP CYFIP2 GRIN2D CLN6 WDR45 DNM1 HLA-DQB1 ATP1A2 UBAP1 TRNW NPC1 ATP6 GLB1 GBA2 TRNE TMEM106B MAPT PDGFB GBA SNCA JPH3 SMC1A MAPT C9ORF72 PARK7 NAGLU APTX MYORG SDHD DNM1L SLC1A2 ROGDI PRDM8 C19ORF12 MAPT ATXN10 PLEKHG4 HTRA2 DARS2 HGSNAT COL4A1 SLC2A3 ATP13A2 MBTPS2 TRNF CUBN FMR1 NBN TLR3 TUBB4A GBA SLC13A5 TK2 SGPL1 AARS1 TREX1 TRNS2 KCNC1 SNCB VPS13C ATP6V1A AP3B2 VCP RRM2B UCP2 DCTN1 GM2A SORL1 PRNP PRNP MAPT ABCD1 ARV1 PLA2G6 TBK1 HTT DNAJC5 DGUOK ARSA ATP13A2 CHMP2B CSTB SPG11 PSEN2 PSEN1 CISD2 CHCHD10 MPO ATXN7 ITM2B FTL HCN1 CACNA1A MCOLN1 PAH SPG21 KMT2A PPP2R2B ADA2 TREM2 TBK1 CHMP2B TYROBP EPM2A VPS13A ATXN8OS HNF4A SCO2 GABRA5 PPP3CA ATXN2 TOMM40 GIGYF2 PRNP APOE SZT2 COMT SDHB ADA2 SQSTM1 ACTL6B ST3GAL5 CNKSR2 FA2H C9ORF72 KCNJ11 CLN5 SYNJ1 TBP KCNB1 CFAP43 APP ATP6V1A ERCC8 GBA VCP DNMT1 DNM1 MMACHC A2M CP HTRA1 TBK1 ASAH1 DISC2 ATN1 RRM2B SNCA VCP