Gene Symbol: MS4A4E
Description: membrane spanning 4-domains A4E
Alias: membrane-spanning 4-domains, subfamily A, member 4E
Species: human
Products:     MS4A4E

Top Publications

  1. Liang Y, Buckley T, Tu L, Langdon S, Tedder T. Structural organization of the human MS4A gene cluster on Chromosome 11q12. Immunogenetics. 2001;53:357-68 pubmed
    ..In the current study, we identified three additional human MS4A genes: MS4A4E, MS4A6E, and MS4A10...
  2. Wang H, Bi R, Hu Q, Xiang Q, Zhang C, Zhang D, et al. Validating GWAS-Identified Risk Loci for Alzheimer's Disease in Han Chinese Populations. Mol Neurobiol. 2016;53:379-390 pubmed publisher
    ..LO)-AD in populations from Southwest China, whereas SNPs rs744373 (BIN1), rs9331942 (CLU), and rs670139 (MS4A4E) were linked to LO-AD in populations from East China...
  3. Lo M, Kauppi K, Fan C, Sanyal N, Reas E, Sundar V, et al. Identification of genetic heterogeneity of Alzheimer's disease across age. Neurobiol Aging. 2019;: pubmed publisher
    ..05). APOE region, BIN1, OR2S2, MS4A4E, and PICALM were identified at the gene-based genome-wide significance (p < 2...
  4. Kunkle B, Jaworski J, Barral S, Vardarajan B, Beecham G, Martin E, et al. Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease. Alzheimers Dement. 2016;12:2-10 pubmed publisher
    ..2-11q14.1, and 14q13.3), one of which replicates a genome-wide association LOAD locus, the MS4A6A-MS4A4E gene cluster at 11q12.2. Five of the 14 regions (3q25.31, 4q34.1, 8q22.3, 11q12.2-14.1, and 19q13...
  5. Barber R, Phillips N, Tilson J, Huebinger R, Shewale S, Koenig J, et al. Can Genetic Analysis of Putative Blood Alzheimer's Disease Biomarkers Lead to Identification of Susceptibility Loci?. PLoS ONE. 2015;10:e0142360 pubmed publisher
    ..Signals for several endophenotypes were observed in the vicinity of CR1, MS4A6A/MS4A4E, PICALM, CLU, and PTK2B...
  6. Wang Y, Tang B, Yang Y, Cui Y, Kang J, Liu Z, et al. Relationship between Alzheimer's disease GWAS-linked top hits and risk of Parkinson's disease with or without cognitive decline: a Chinese population-based study. Neurobiol Aging. 2016;39:217.e9-11 pubmed publisher PD, investigating 13 single-nucleotide polymorphisms in 9 genes (BIN1, CLU, ABCA7, CR1, PICALM, MS4A6A, CD33, MS4A4E, and CD2AP)...
  7. Andrews S, Das D, Cherbuin N, Anstey K, Easteal S. Association of genetic risk factors with cognitive decline: the PATH through life project. Neurobiol Aging. 2016;41:150-158 pubmed publisher
    ..associations with cognitive performance were observed for APOE ?4 allele, ABCA7-rs3764650, CR1-rs3818361, MS4A4E-rs6109332, BDNF-rs6265, COMT-rs4680, CTNNBL-rs6125962, FRMD4A-rs17314229, FRMD4A-rs17314229, intergenic SNP chrX-..
  8. Rosenberg R, Lambracht Washington D, Yu G, Xia W. Genomics of Alzheimer Disease: A Review. JAMA Neurol. 2016;73:867-74 pubmed publisher
    ..common variants associated with late-onset AD have been identified including apolipoprotein E, BIN1, ABC7, PICALM, MS4A4E/MS4A6A, CD2Ap, CD33, EPHA1, CLU, CR1, and SORL1...
  9. Lin E, Tsai S, Kuo P, Liu Y, Yang A, Kao C. Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population. Oncotarget. 2017;8:24077-24087 pubmed publisher

More Information


  1. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert J, Carrasquillo M, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011;43:429-35 pubmed publisher
    ..6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10)). ..
  2. Chu A, Guilianini F, Grallert H, Dupuis J, Ballantyne C, Barratt B, et al. Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. Circ Cardiovasc Genet. 2012;5:676-85 pubmed publisher
    ..Novel associations were identified and replicated at MS4A4E and TMEM49 for baseline Lp-PLA(2) activity with genome-wide significant joint P values (P=2.0 × 10(-11) and P=2...
  3. Ebbert M, Boehme K, Wadsworth M, Staley L, Mukherjee S, Crane P, et al. Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk. Alzheimers Dement. 2016;12:121-129 pubmed publisher
    Ebbert et al. reported gene-gene interactions between rs11136000-rs670139 (CLU-MS4A4E) and rs3865444-rs670139 (CD33-MS4A4E). We evaluate these interactions in the largest data set for an epistasis study...
  4. Bressler J, Mosley T, Penman A, Gottesman R, Windham B, Knopman D, et al. Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study. Am J Med Genet B Neuropsychiatr Genet. 2017;174:269-282 pubmed publisher
    ..Addition of the minor allele for rs670139 (MS4A4E), rs9331896 (CLU), and rs12155159 (NME8) was nominally associated with change on the DWRT, DSST, and WFT, ..