Shray's NLP Project


SNP Report


Report for SNP rs6739405rs12467815rs12472215rs11126727rs11126731rs993607

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

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: 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


Cognitive impairment
Genes 235
GDF5 SMC1A LAGE3 ADD3 TTC8 ADRA2B AKT1 LTBP4 KCNT1 ALOX12B SLC25A4 PEX3 IKBKG FAS MTFMT PRKRA ATM ATP1A3 RNASEH1 ATR AUH PEX11B BDNF BRAF CACNA1G PHOX2B KRIT1 SMC3 AIFM1 CTDP1 LARGE1 CRLF1 CENPE CHRM3 CHRNG DSTYK CCDC78 PEX16 CYP7B1 MTO1 COL3A1 ATG5 COL5A1 RRM2B MPDU1 B3GALNT2 GDF3 TTC37 C12ORF65 CTNS CTSK IFT140 KMT2B ABCA12 PTPN22 METTL23 DNAJC6 DDB2 CCM2 AP5Z1 DGUOK DMD SOST TPRKB EDN3 TSFM AASS ALOXE3 EPRS ERCC2 ERCC3 ERCC4 ERCC5 ERF STUB1 TRAIP KATNB1 FBN1 ATRIP FKTN FGD1 FGFR3 SLC30A9 POMK SEC23B FLNA BBIP1 POMT1 MTOR BBS12 PLK4 NKX6-2 GJB6 SDCCAG8 GBE1 GCDH SRCAP GDNF GJB2 GLA AFG3L2 GM2A GNAS MARS2 GRID2 WDR73 POLG2 PDCD10 PNKP SLC5A7 HSD17B4 ALG2 CYP4F22 TMEM240 IBA57 INSR ITGA7 ITPR1 KCND3 KCNQ2 KCNQ3 KRT6A KRT6B KRT16 KRT17 KRT81 KRT83 KRT86 LAMA2 LAMP2 MAG MAOA MEOX1 LIPN ND5 RNR1 TRNF TRNH TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 NAGA NFIA NPHP1 NIPAL4 MYO1H OCRL KLLN PCNT SDHAF1 PEX1 PEX6 PEX10 PEX12 PEX13 PEX14 PGM3 PIK3CA RIN2 GMPPB SEC61A1 ADAMTSL4 ALG12 POMT2 FKRP POLG LZTFL1 PRKCG DNAJC3 APTX PTEN TTC19 CEP120 PEX19 PEX2 PEX5 RBBP8 DARS2 BBS10 RMRP ALG9 CLMP ALG13 PANK2 ATXN1 SCN8A TP53RK SDHA SDHB SDHC SDHD VPS37A DOLK POMGNT1 OPA3 SPG11 OSGEP SLC2A1 PEX26 SDR9C7 SLC18A2 CEP152 COASY CENPJ SPAST SPR SPTBN2 SPART NAGS SULT2B1 ROBO3 BBS5 ATP13A2 TGM1 ABCA5 TK2 CYP2U1 CLCF1 TP53 GDF6 TSC1 TSC2 UBA1 UQCRC2 PORCN TWNK XPA XPC XRCC4 NUP107 GJC2 DSG4