SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation K56M

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Biomarkers for Alzheimer's Disease and Mild Cognitive Impairment in African Americans and Caucasians

African Americans are twice as likely to develop Alzheimer's disease as white Americans, but few African Americans are enrolled in large Alzheimer's biomarker studies. The current proposal aims to determine the influence of Alzheimer's disease and vascular disease on memory and aging in African Americans through modern biomarkers (spinal fluid, MRI, and amyloid imaging), and how these may differ between African Americans and white Americans in preparation for a large multi-center study of aging in African American.

NCT02089555
Conditions
  1. Mild Cognitive Impairment
  2. Alzheimer's Disease
Interventions
  1. Procedure: Lumbar puncture
  2. Procedure: Blood draw
  3. Procedure: Magnetic Resonance Imaging (MRI)
MeSH:Alzheimer Disease Cognitive Dysfunction
HPO:Alzheimer disease Cognitive impairment Mental deterioration

The Lys56Met ICAM1 gene variant associated with low ICAM-1 levels is uniquely found in 16-20% of AA, and these subjects may have impaired downstream activation of neprilysin, an Abeta-degrading enzyme. --- Lys56Met ---

If the hypothesis is true, AA subjects with the Lys56Met gene variant will be more likely to have hippocampal atrophy, temporal-parietal cerebral hypoperfusion, and cerebral amyloid deposition than AA subjects and NHW subjects without the gene variant. --- Lys56Met ---

Primary Outcomes

Measure: CSF endothelial marker levels

Time: one time only

Measure: CSF Alzheimer's biomarker levels

Time: one time only

Secondary Outcomes

Measure: MRI evidence of small vessel disease

Time: one time only

Measure: MRI evidence of brain atrophy

Time: one time only


HPO Nodes


HP:0001268: Mental deterioration
Genes 494
PRDM8 KCNA2 VCP TRNL1 TBP SNCB DNAJC13 PNPLA6 MAPT RBM28 COMT PDE11A SCN8A PSEN2 ERCC8 PRNP ERCC6 GRN TREM2 EEF1A2 FTL HFE SNCA GBA2 ACTL6B TYMP SNCA HTT MAPT TTR CHD2 SYNJ1 TRNE C19ORF12 SYNJ1 NPC1 ABCC8 ATXN2 WFS1 C9ORF72 CSTB WWOX COX3 CYTB MFN2 ZFYVE26 PRKN NDP CHI3L1 ADH1C ACTB LRRK2 AUH TLR3 MAPT DNAJC6 GDAP2 SLC44A1 CHCHD10 TINF2 CREBBP C9ORF72 COX2 SDHA PMPCA CUBN NECAP1 PDGFB NHLRC1 GABRB2 PLA2G6 PINK1 GABRA2 WDR45 NAGLU CHMP2B NOTCH2NLC TOMM40 GALC TRAK1 CSF1R CHMP2B COL18A1 VCP SCN3A JAM2 ARSA TIMM8A HIBCH TREX1 TRNH MATR3 CHMP2B HGSNAT LYST GRN MPO PRNP APP TREM2 CUX2 PPP2R2B CYFIP2 NBN CACNA1B COASY ND1 ADA2 CLN6 CST3 ATP6V1A SQSTM1 CLN6 MECP2 ABCD1 DNAJC5 PDGFRB TREM2 PSAP SLC13A5 HNF4A ATP6V1E1 ATXN2 MYORG GBA SLC20A2 FMR1 COL4A1 HLA-DQB1 SLC13A5 ATXN7 PLP1 SCARB2 PSAP GABRA5 GRN PSEN1 TYROBP PSEN1 ATN1 RNF216 CHMP2B NRAS APOE TRNS2 TRNS1 NOTCH3 HTT XPR1 ROGDI NR4A2 TK2 SURF1 SNCA PSAP CREBBP SPG11 TRNK APP OPA1 MAPT RRM2B TBK1 DGUOK GBA2 ITM2B WFS1 TARDBP ND4 PDE10A POLG APP APOL2 GBA TUBA4A ND5 LRRK2 SLC6A1 SPG21 PANK2 UBAP1 PSEN2 GRIN2D MFSD8 PRKAR1A DNM1 CP COX1 PRNP SORL1 CLN8 UBQLN2 CYP27A1 ND6 RAB27A GALC HEXA PRDX1 MAPT A2M QDPR ATP6 APP MMACHC VCP CERS1 SNORD118 ALDH18A1 HNRNPA2B1 TRNK TBK1 TYROBP GABRG2 SQSTM1 HTRA1 AARS2 SUMF1 ARV1 STXBP1 GALC FA2H DCTN1 HTT SLC1A2 RRM2B TIMM8A CLN8 CLTC ASAH1 ASAH1 CPLX1 SLC2A3 HSD17B10 NDUFAF3 NTRK2 PPT1 TRNF GBE1 KCNB1 MAPT FTL VCP C9ORF72 PLA2G6 NHLRC1 DNM1L HEXB ERCC8 UCHL1 PSEN1 POLG MAPT HCN1 PSEN1 PLAU FBXO7 APOE MAPT CHCHD10 UCP2 MTHFR SNCAIP AARS1 TRNL1 ATP7B COX1 NDUFA6 DISC2 PARK7 PTS CTC1 AP2M1 GLB1 PRNP GIGYF2 PSAP GRN IRF6 C9ORF72 TREX1 APP PDGFRB KCNC1 ATP13A2 SMC1A PINK1 PPP2R2B HMBS PRNP MAPT FA2H PRNP CDK19 GLUD2 PSEN1 TRPM7 SCO2 GBA SYN2 ATP6V0A2 IDUA PSEN1 PANK2 MCOLN1 RNASEH1 SYNGAP1 ROGDI PPP3CA CNTNAP2 DNMT1 KCNJ11 FUS GCH1 SNCA ATP1A2 DAOA SPG11 SYNJ1 TBK1 MAPT SCN1A SNCA SERPINI1 HNRNPA1 SDHD TBC1D24 VPS13C GCDH GBA APP ATP6 CSF1R PDGFRB DRD3 TRNQ TRNQ SYNJ1 DCTN1 SPG21 AP3B2 CACNA1A AP5Z1 TIMMDC1 PRKCG RTN4R TBP PODXL FGF12 TRNF ATP13A2 ADA2 VCP PLEKHG4 CTSD ATXN7 PDGFB C9ORF72 JPH3 EPM2A TTPA GNAS KMT2A CLN5 NPC2 PARS2 DARS2 JPH3 HNF1A ERCC2 DCAF17 HTR2A LRRK2 EPM2A VCP TMEM106B COX3 ALDH18A1 PRNP MATR3 ATP13A2 VPS13C TMEM106B SNCA ND1 VPS35 UBA5 EIF4G1 EP300 PRNP XPA GRN SQSTM1 MTHFR DNMT1 NDUFB8 GABRB3 TRNW PRDM8 TRNS2 TREM2 SDHAF1 CSTB ERCC6 COX2 TWNK GM2A ERCC4 RNF216 GBA ATXN10 DHDDS PRKAR1B KCTD7 GALC PRICKLE1 NDUFS2 DNM1 APP TRNV RBM28 BSCL2 TARDBP ATP1A3 NUS1 KCNA2 MAPT PAH DALRD3 SCN1A YWHAG TREM2 PLA2G6 SQSTM1 MAPK10 GBA MBTPS2 BSCL2 FA2H CNKSR2 SPAST RAB39B VPS13A ATN1 VPS13A CTNS ARSA SZT2 ATXN3 CLN3 MAPT CTSF ATXN2 MAPT APOL4 TRNW CHMP2B TRNC HNRNPA2B1 SGPL1 TBP NOTCH3 DNMT1 ND6 WDR45 ATXN8OS SUMF1 CFAP43 ITM2B FMR1 APTX LMNB1 UBTF ND5 ATP6V1A TUBB4A TREM2 CISD2 RRM2B ARSA HTRA1 ATP13A2 NOTCH2NLC ABCA7 PSEN1 NOS3 DMPK C19ORF12 HEPACAM TMEM106B CHD2 HTRA2 TRNS1 GBA SDHB
Protein Mutations 3
K56M V158M V66M