SNPMiner Trials by Shray Alag


SNPMiner Trials: SNP Report


Report for SNP rs993607

Developed by Shray Alag, 2019.
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 266
NHLRC1 GABRB2 HEXA GABRB3 HEXB UBA5 CLN8 SDHAF1 ATP6V1A TREX1 AARS ATP6V1E1 CTSF CHCHD10 ERCC2 GALC HTRA1 ERCC4 ERCC6 SPAST ATP7B PSAP WWOX PSEN1 PSEN2 PDGFB PDGFRB MAPT DISC2 VPS13C SMC1A MATR3 APTX CYP27A1 ACTB NAGLU LRRK2 CPLX1 GBA GBE1 DHDDS NBN IRF6 CHD2 GCH1 NDP NDUFA6 PDE10A TIMMDC1 HNF4A DCTN1 ADA2 HNRNPA1 NDUFB8 TTPA ABCA7 MECP2 TTR HNRNPA2B1 TUBA4A NDUFS2 MYORG SNORD118 TBC1D24 SPG21 SYNGAP1 ERCC8 TYROBP HEPACAM TIMM8A TUBB4A PRDM8 PANK2 KCNA2 SERPINI1 PNPLA6 STXBP1 MBTPS2 GLB1 AARS2 KCNB1 KCNC1 SYNJ1 TINF2 ATXN2 ATXN7 PTS SQSTM1 SGPL1 UBTF CLN3 ABCC8 SURF1 CLN5 AP5Z1 SCN1A DGUOK C19ORF12 SUMF1 KCNJ11 UCP2 SCN3A CLTC SCN8A VPS13A ATXN3 FBXO7 DCAF17 CLN6 MFN2 GM2A ALDH18A1 KMT2A RNF216 PLA2G6 FGF12 TOMM40 ATXN10 ABCD1 GNAS RAB39B DNM1 QDPR ITM2B PLP1 RAB27A SDHA NOTCH3 SDHB VCP SDHD DNMT1 PDE11A TBP NPC1 KCTD7 CACNA1A SCO2 HNF1A CUX2 DNAJC13 EPM2A ROGDI UBQLN2 FMR1 AMN NRAS ATN1 ARV1 PLEKHG4 SZT2 CISD2 PRICKLE1 CTC1 WFS1 HCN1 FA2H NTRK2 RRM2B POLG NDUFAF3 HGSNAT NR4A2 DNM1L CP TWNK GRN NPC2 SPG11 CNKSR2 XPA GRIN2D RBM28 APOE CUBN APP IDUA TYMP GBA2 ATP13A2 MCOLN1 SLC1A2 YWHAG OPA1 SLC2A3 MMACHC CYFIP2 NECAP1 CHMP2B TRAK1 EEF1A2 SLC6A1 TMEM106B TARDBP COL18A1 WDR45 PPP2R2B ARSA PPP3CA SNCAIP CSF1R ATP6 TRNC COX1 LMNB1 COX2 COX3 PPT1 CYTB ASAH1 TK2 SLC20A2 SCARB2 TBK1 NUS1 ND1 AP3B2 VPS35 ND5 PRDX1 EIF4G1 ND6 PAH CST3 CNTNAP2 TREM2 CSTB PRKAR1A PRKAR1B GIGYF2 DNAJC5 SLC13A5 TRNE TRNF PRKCG ZFYVE26 FTL BSCL2 MFSD8 HSD17B10 TRNK TRNL1 CTNS FUS COASY CERS1 TRNQ SNCB ATP1A2 ATP1A3 TRNS1 SNCA TRNS2 C9ORF72 RNASEH1 TRNV TRNW MAPK10 CTSD PRNP HTT ATP6V0A2 PINK1 JPH3 XPR1 SORL1