NLP SNP

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 Mild Cognitive Impairment Alzheimer's Disease Procedure: Lumbar puncture Procedure: Blood draw 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

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

Alzheimer disease

Genes 6

PSEN2 CACNA1G APOE APP GATA1 PSEN1