SNPMiner Trials (Home Page)
Report for Mutation K56M
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There is one clinical trial. 
Clinical Trials
      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.
    
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
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   hr>
Alzheimer disease 
Genes 13
MPO  HFE  ABCA7  PSEN1  APOE  APP  A2M  CACNA1G  PSEN2  APOE  PLAU  GATA1  NOS3   hr>