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Dr. David Hughes

Dr. David Hughes

UCD School of Biomolecular & Biomedical Science, UCD Conway Institute

Scopus ID: 7403464450, ORCHID ID: 0000-0003-1668-8770

https://people.ucd.ie/david.hughes

https://www.researchgate.net/profile/David-Hughes-37

 

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Biographical Sketch

Dr David Hughes joined the faculty of the School of Biomolecular and Biomedical Sciences, University College Dublin (UCD) in 2018, where he is an Ad Astra Fellow, Assistant Professor of Cancer Epidemiology, and Fellow of the Conway Institute. Dr Hughes received his BSc Biochemistry degree from the University of Leeds, England, a PhD in Medical Genetics at Queen’s University Belfast, Northern Ireland, and a Postgraduate diploma in Health Professions Education at the RCSI University of Medicine and Health Science, Dublin, Ireland. Previously he has worked at the RCSI, TCD (Dublin, Ireland), the WHO/International Agency for Research on Cancer (IARC, Lyon, France), the Sanger Institute (Cambridge, England), and Imperial College (London, England).

Dr Hughes is a member of the UCD College of Science Global Engagement Committee, serves on the European Prospective Investigation of Cancer and Nutrition (EPIC) Gastrointestinal Cancer Working Group, a Governing Council member of the International Society for Selenium Research and the Irish Cancer Epidemiology Network, and a member of the International Hundred K+ Cohort Consortium (IHCC) & its Scientific Strategy and Cohorts Enhancement Group. He previously served on the Management Committee (Ireland) for COST Action CA17118 TRANSCOLONCAN.

Research Interests

My current molecular epidemiology research examines how nutritional, genetic, metabolic, microbial and lifestyle factors (together with their interactive impact on molecular mechanisms) may affect the initiation and progression of gastrointestinal cancers (to May 2023: >100 publications, H-index = 31, ~5560 citations; my manuscripts in the publications tab list those since joining the CBT lab in 2018. Full list available at https://people.ucd.ie/david.hughes/publications).

Investigative approaches utilize large, international population cohort infrastructures and patient cohort studies. My ambition is to help integrate cancer molecular epidemiology as a vital bridge of population-based medicine linking lifestyle information, cancer biology (including trans-omics datasets), and public health and clinical measures of disease prevention and control. Current & recent projects have been funded by internal UCD schemes, the European Union (EU), the Health Research Board (HRB) of Ireland, the World Cancer Research Fund (WCRF), and the International Hundred K+ Cohort Consortium (via the NIH, USA and Wellcome Trust, UK).

See for example: my nutrient research (https://www.youtube.com/watch?v=b8Vaj4Xbda8) and my microbiome research (https://www.youtube.com/watch?v=wELpozH0DQI).

 

Selected Publications

  1. Daniel N, Farinella R, Chatziioannou AC, Jenab M, Mayén AL, Rizzato C, Belluomini F, Canzian F, Tavanti A, Keski-Rahkonen P, Hughes DJ*, Campa D* (*equal contribution). Genetically Predicted Gut Bacteria, Circulating Bacteria-Associated Metabolites and Pancreatic Ductal Adenocarcinoma: A Mendelian Randomisation Study. Sci Rep 2024, 14, 25144 (online 24th Oct-2024). https://doi.org/10.1038/s41598-024-77431-5. PMID: 39448785.

  2. Papadimitriou N, Murphy N, Jenab M, Chen Z, Brenner H, Kweon SS, Le Marchand L, Moreno V, Platz EA, van Duijnhoven FJB, Cheng I, Pai RK, Phipps AI, Peters U, Zheng W, Hughes DJ. Body mass index at birth and early life and colorectal cancer: A two-sample Mendelian randomization analysis in European and East Asian genetic similarity populations. Pediatr Obes. 2024 Nov 25:e13186. doi: 10.1111/ijpo.13186. Epub ahead of print. PMID: 39587448.

  3. Genua F, Butt, J, Ganesan H, Waterboer T, Hughes DJ. Association of antibody responses to Helicobacter pylori proteins with colorectal adenoma and colorectal cancer. Pathogens 2024, 13, 897. https://doi.org/10.3390/pathogens13100897 (accepted 8th Oct 2024). PMID: 39452767.

  4. Mandle HB, Jenab M, Gunter MJ, Tjønneland A, Olsen A, Dahm CC, Zhang J, Sugier PE, Rothwell J, Severi G, Kaaks R, Katzke VA, Schulze MB, Masala G, Sieri S, Panico S, Sacerdote C, Bonet C, Sánchez MJ, Amiano P, Huerta JM, Guevara M, Palmqvist R, Löwenmark T, Perez-Cornago A, Weiderpass E, Heath AK, Cross AJ, Vineis P, Hughes DJ†, Fedirko V† (†contributed equally to this work and share senior authorship). Inflammation and Gut Barrier Function-Related Genes and Colorectal Cancer Risk in Western European Populations. Mutagenesis 5 March 2024. https://doi.org/10.1093/mutage/geae008. PMID: 38441165. (Formed part of the Special Issue Current Understanding of Colorectal and Pancreatic Cancers: https://academic.oup.com/mutage/advance-article/doi/10.1093/mutage/geae009/7637439).

  5. Li J, Roshelli Baker J, Aglago EK, Zhao Z, Jiao L, Freisling H, Hughes DJ, Eriksen AK, Tjønneland A, Severi G, Katzke V, Kaaks R, Schulze MB, Masala G, Pala V, Pasanisi F, Tumino R, Padroni L, Vermeulen RCH, Gram IT, Braaten T, Jakszyn PG, Sánchez MJ, Gómez-Gómez JH, Moreno-Iribas C, Amiano P, Papier K, Weiderpass E, Huybrechts I, Heath AK, Schalkwijk C, Jenab M, Fedirko V. Pre-diagnostic plasma advanced glycation end-products and soluble receptor for advanced glycation end-products and mortality in colorectal cancer patients. Int J Cancer 2024 (epub Jul 26), 155(11):1982‐1995. doi:10.1002/ijc.35114. PMID: 39057841.

  6. Rayman MP, Schomburg L, Zhang J, Taylor EW, Du Laing G, Beck M, Hughes DJ, Heller R. Comment on: Could Selenium Supplementation Prevent COVID-19? A Comprehensive Review of Available Studies. Molecules 2024, 24th May; 29(11):2466. https://www.mdpi.com/1420-3049/29/11/2466. PMID: 38893342.

  7. Daniel N, Genua F, Jenab M, Mayén AL, Chrysovalantou Chatziioannou A, Keski-Rahkonen P, Hughes DJ. The role of the gut microbiome in the development of hepatobiliary cancers. Hepatology 2023 Apr 15. doi: 10.1097/HEP.0000000000000406. PMID: 37055022.                                                               
  8. Alexander JL, Posma J, Scott A, Poynter L, Mason S, Doria L, McDonald JA, Cameron S, Hughes DJ, Liska V, Susova S, Soucek P, Gomez-Romero M, Herendi L, Lewis MR, Hoyles L, Woolston A, Cunningham D, Darzi A, Gerlinger M, Goldin R, Takats Z, Marchesi JR, Teare J, Kinross J. Pathobionts in the tumour microbiota predict survival following resection for colorectal cancer. Microbiome 2023 May 8;11(1):100. doi: 10.1186/s40168-023-01518-w. PMID: 37158960; PMCID: PMC10165813.                                                                                                                                                                         
  9. Aglago EK, Cross AJ, Riboli E, Fedirko V, Hughes DJ, Fournier A, Jakszyn P, Freisling H, Gunter MJ, Dahm CC, Overvad K, Tjønneland A, Kyrø C, Boutron-Ruault MC, Rothwell JA, Severi G, Katzke V, Srour B, Schulze MB, Wittenbecher C, Palli D, Sieri S, Pasanisi F, Tumino R, Ricceri F, Bueno-de-Mesquita B, Derksen JWG, Skeie G, Jensen TE, Lukic M, Sánchez MJ, Amiano P, Colorado-Yohar S, Barricarte A, Ericson U, van Guelpen B, Papier K, Knuppel A, Casagrande C, Huybrechts I, Heath AK, Tsilidis KK, Jenab M. Dietary intake of total, heme and non-heme iron and the risk of colorectal cancer in a European prospective cohort study. Br J Cancer 2023 Feb 128: 1529–1540. doi: 10.1038/s41416-023-02164-7. PMID: 36759722.                                                                                                                                                                                                                                                     
  10. Butt J, Jenab M, Werner J, Fedirko V, Wild C, Dahm CC, Tjønneland A, Olsen A, Boutron-Ruault MC, Rothwell JA, Severi G, Kaaks R, Turzanski-Fortner R, Aleksandrova K, Schulze M, Palli D, Pala V, Panico S, Tumino R, Sacerdote C, Bueno-de-Mesquita B, van Gils C, Gram I, Lukic M, Sala N, Sanchez Perez MJ, Ardanaz E, Chirlaque MD, Palmquist R, Löwenmark T, Travis RC, Heath A, Cross AJ, Freisling H, Zouiouich S, Aglago E, Waterboer T & Hughes DJ. Association of Pre-diagnostic Antibody Responses to Escherichia coli and Bacteroides fragilis Toxin Proteins with Colorectal Cancer in a European Cohort. Gut Microbes 2021, 13(1): 1-14 (published online 20 April 2021) DOI: 10.1080/19490976.2021.1903825. PMID: 3387485                                                                                                                                                                                                                                                   
  11. Murphy N, Moreno V, Hughes DJ, Vodicka L, Vodicka P, Aglago EK, Gunter M, Jenab M. Lifestyle and Dietary Environmental Factors in Colorectal Cancer Susceptibility. Mol Aspects Med 2019 Jun 28. pii: S0098-2997(19)30033-0. PMID: 31233770                                                                                                                                                                                                                                                               
  12. Scott AJ, Alexander JL, Merrifield CA, Cunningham D, Jobin C, Brown R, Alverdy J, O’Keefe SJ, Gaskins HR, Teare J, Yu J, Hughes DJ, Verstraelen H, Burton J, O’Toole PW, Rosenberg DW, Marchesi JR, Kinross JM. The International Cancer Microbiome Consortium Consensus Statement on the Role of the Human Microbiome in Carcinogenesis. Gut 2019 Sep;68(9):1624-1632; doi: 10.1136/gutjnl-2019-318556. PMID: 31092590                                                                                                                                                                                                                                                                                 
  13. Butt J, Jenab M, Pawlita M, Overvad K, Tjønneland A, Olsen A, Boutron-Ruault MC, Carbonnel F, Mancini FR, Kaaks R, Kühn T, Boeing H, Trichopoulou A, Bamia C, Karakatsani A, Palli D, Pala VM, Tumino R, Sacerdote C, Panico S, Bueno-de-Mesquita B, van Gils CH, Vermeulen RCH, Weiderpass Vainio E, Quirós JR, Duell EJ, Sánchez MJ, Dorronsoro M, Huerta JM, Ardanaz E, van Guelpen B, Harlid S, Perez-Cornago A, Gunter M, Murphy N, Freisling H, Aune D, Waterboer T, Hughes DJ. Antibody responses to Fusobacterium nucleatum proteins in pre-diagnostic blood samples are not associated with risk of developing colorectal cancer. Cancer Epidemiol Biomark Prev 2019, Sep;28(9):1552-1555. doi: 10.1158/1055-9965.EPI-19-0313. PMID: 31481495.                                                                                                                                                                                                         
  14. Fedirko V, Jenab M, Méplan C, Jones JS, Zhu W, Schomburg L, Siddiq A, Hybsier S, Overvad K, Tjønneland A, Omichessan H, Perduca V, Boutron-Ruault MC, Kühn T, Katzke V, Aleksandrova K, Trichopoulou A, Karakatsani A, Kotanidou A, Tumino R, Panico S, Masala G, Agnoli C, Naccarati A, Bueno-de-Mesquita B, Vermeulen RCH, Weiderpass Vainio E, Skeie G, Haugdahl Nøst T, Lujan-Barroso L, Quirós JR, Huert JM, Rodríguez-Barranco M, Barricarte A, Gylling B, Harlid S, Bradbury KE, Wareham N, Khaw KT, Gunter M, Murphy N, Freisling H, Tsilidis K, Aune D, Riboli E, Hesketh JE, Hughes DJ. Association of selenoprotein and selenium pathway genotypes with risk of colorectal cancer and interaction with selenium status. Nutrients 2019, Apr 25; 11(4), 935; https://doi.org/10.3390/nu11040935, PMID: 31027226                                                                                                                                                                                                                                   
  15. Kunzmann AT, Proença MA, Jordao H, Jiraskova K, Schneiderova M, Levy M, Liska V, Buchler T, Vodickova L, Vymetalkova V, Silva AE, Vodicka P, Hughes DJ. Fusobacterium nucleatum tumor DNA levels are associated with survival in colorectal cancer patients. Eur J Clin Microbiol Infect Dis 2019, Oct;38(10):1891-1899. DOI:10.1007/s10096-019-03649-1. PMID: 31367996                                                                                                                                                                                    
  16. Hughes DJ, Kunická T, Schomburg L, Liška V, Swan N, Souček P. Expression of selenoprotein genes and association with selenium status in colorectal adenoma and colorectal cancer. Nutrients 2018 10, 1812, Nov 21st; doi:10.3390/nu10111812. PMID: 30469315.                                                                                                                                                   
  17. Butt J, Jenab M, Willhauck-Fleckenstein M, Michel A, Pawlita M, Kyrø C, Anne Tjønneland A, Boutron-Ruault MC, Carbonnel F, Severi G, Kaaks R, Kühn T, Boeing H, Trichopulou A, la Vecchia C, Karakatsani A, Panico S, Tumino R, Agnoli C, Palli D, Sacerdote C, Bueno-de-Mesquita  HB, Weiderpass E, Sánchez MJ, Bonet C, Huerta JM, Ardanaz E, Bradbury K, Gunter M,  Murphy N, Freisling H, Riboli E, Tsilidis K, Aune D, Waterboer T, Hughes DJ. Prospective evaluation of antibody response to Streptococcus gallolyticus and risk of colorectal cancer. Int J Cancer 2018 July 15; 143(2): 245-252. PMID: 29377173.                                                                                                                                                                                                                                             
  18. Stepien M, Jenab M, Freisling H, Becker NP, Czuban M, Tjønneland A, Olsen A, Overvad K, Boutron-Ruault MC, Mancini FR, Savoye I, Katzke V, Kühn T, Boeing H, Iqbal K, Trichopoulou A, Bamia C, Orfanos P, Palli D, Sieri S, Tumino R, Naccarati A, Panico S, Bueno-de-Mesquita HBA, Peeters PH, Weiderpass E, Merino S, Jakszyn P, Sanchez MJ, Dorronsoro M, Huerta JM, Barricarte A, Boden S, van Guelpen B, Wareham N, Khaw KT, Bradbury KE, Cross AJ, Schomburg L, Hughes DJ. Pre-diagnostic copper and zinc biomarkers and colorectal cancer risk in the European Prospective Investigation into Cancer and Nutrition cohort. Carcinogenesis 2017 Jun 1; 38 (7): 699-707. PMID: 28575311.                                                                                                       
  19. Stepien M, Hughes DJ, Hybsier S, Bamia C, Tjønneland A, Overvad K, Affret A, His M,  Boutron-Ruault MC,  Katzke V, Kühn T, Aleksandrova K, Trichopoulou A, Lagiou P, Orfanos P, Palli D, Sieri S, Tumino R, Ricceri F, Panico S, Bueno-de-Mesquita H.B(as),  Peeters PH, Weiderpass E, Lasheras C, Bonet C, Molina-Portillo E, Dorronsoro M,  Huerta JM, Barricarte A, Ohlsson B, Sjöberg K, Werner M, Shungin D, Wareham N, Khaw KT, Travis RC, Freisling H, Cross AJ, Schomburg L, Jenab M. Circulating copper and zinc levels and risk of hepatobiliary cancers in Europeans. Br J Cancer 2017 Feb 28; 116: 688–696.  PMID: 28152549                                                                                                                                                                                               
  20. Mohelnikova-Duchonova B, Strouhal O, Hughes DJ, Holcatova I, Oliverius M, Kala Z, Campa D, Rizzato C, Canzian F, Pezzilli R, Talar-Wojnarowska R, Malecka-Panas E, Sperti C, Federico Zambon C, Pedrazzoli S, Fogar P, Milanetto A, Capurso G, Delle Fave G, Valente R, Gazouli M, Malleo G, Lawlor RT, Strobel O, Hackert T, Giese N, Vodicka P, Vodickova L, Landi S, Tavano F, Gioffreda D, Piepoli A, Pazienza V, Mambrini A, Pedata M, Cantore M, Bambi F, Ermini S, Funel N, and Souček P. SLC22A3 polymorphisms do not modify pancreatic cancer risk, but may influence overall patient survival. Sci Rep 2017 Mar 8; 7: 43812. PMID: 28272475                                                                                                                                              
  21. Schomburg L, Hughes DJ. The missing link? The potential role of selenium in the development of liver cancer and significance for the general population. Expert Rev Gastroenterol Hepatol 2017; Aug;11(8):707-709. PMID: 28415859                                                                                                                                                                                                                           
  22. Hughes DJ, Duarte-Salles T, Hybsier S, Trichopoulou A, Stepien M, Aleksandrova K, Overvad K, Tjønneland A, Olsen A, Affret A, Fagherazzi G, Boutron-Ruault MC, Katzke V, Kaaks R, Boeing H, Bamia C, Lagiou P, Peppa E, Palli D, Krogh V, Panico S, Tumino R, Sacerdote C, Bueno-de-Mesquita HB, Peeters PH, Engeset D, Weiderpass E, Lasheras C, Agudo A, Sánchez MJ, Navarro C, Ardanaz E, Dorronsoro M, Hemmingsson O, Wareham N, Khaw KT, Bradbury K, Cross AJ, Gunter M, Riboli E, Romieu I, Schomburg L, Jenab M. Pre-diagnostic selenium status and hepatobiliary cancer risk in the European Prospective Investigation into Cancer and Nutrition Cohort. Am J Clin Nutr 2016 Aug; 104: 1–9. PMID: 27357089                                                                                                                                                                                                   
  23. Hughes DJ, Fedirko V, Jenab M, Schomburg L, Méplan C, Freisling H, Bueno de Mesquita HB, Hybsier S, Becker NP, Czuban M, Tjønneland A, Outzen M, Boutron-Ruault MC, Racine A, Bastide N,  Kühn T, Kaaks R, Trichopoulos D, Trichopoulou A, Lagiou P, Panico S, Peeters PH, Weiderpass E, Skeie G, Dagrun E, Chirlaque MD, Sánchez MJ, Ardanaz E, Ljuslinder I, Wennberg M, Bradbury KE, Vineis P, Naccarati A, Palli D, Boeing H, Overvad K, Dorronsoro M, Jakszyn P, Cross AJ, Ramón Quirós  J, Stepien M, Kong SY, Duarte-Salles T, Riboli E, Hesketh JE. Selenium Status is Associated with Colorectal Cancer risk in the European Prospective Investigation of Cancer and Nutrition Cohort. Int J Cancer 2015 Mar 1; 136(5): 1149-61. PMID: 25042282                                                                                                                                                                                                 
  24. Dowling P, Hughes DJ, Larkin AM, Meiller J, Henry M, Meleady P, Lynch V, Pardini B, Naccarati A, Levy M, Vodicka P, Neary P, Clynes M. Elevated levels of 14-3-3 proteins, serotonin, gamma enolase and pyruvate kinase identified in clinical samples from patients diagnosed with colorectal cancer. Clin Chim Acta 2015 Feb 20; 441: 133-41. PMID: 25540887                                                                                                                                                      
  25. Aherne ST, Madden SF, Hughes DJ, Pardini B, Naccarati A, Levy M, Vodicka P, Neary P, Dowling P, Clynes M. Circulating miRNAs miR-34a and miR-150 associated with colorectal cancer progression. BMC Cancer 2015; 15: 329. PMID:25924769.                                                                                                                                                                                          
  26. Flanagan L, Schmid J, Neary P, Ebert MP, Souček P, Kunicka T, Liska V, Bruha J, Dezeeuw N, Tommasino M, Jenab M, Prehn JH, Hughes DJ. Fusobacterium nucleatum associates with stages of colorectal neoplasia development, colorectal cancer and disease outcome. Eur J Clin Microbiol Infect Dis 2014 Aug; 33(8): 1381-1390. PMID:24599709                                                                                                                                                                                   
  27. Kelley L, Swan N, Hughes DJ. An analysis of the duplicate testing strategy of an Irish immunochemical FOBT colorectal cancer screening program. Colorectal Disease 2013; 15: e512–e521. PMID: 23746062                                                                                                                                                                                                                                             
  28. Ebert MPA, Tänzer M, Balluff B, Burgermeister E, Kretzschmar AK, Hughes DJ, Tetzner R, Lofton-Day C, Rosenberg R, Reinacher-Schick A, Schulmann K, Hofheinz R, Röcken C, Keller G, Langer R, Stöhlmacher J, Schuster T, Ströbel P, Schmid R. TFAP2E/DKK4 and Chemoresistance in Colorectal Cancer. N Engl J Med 2012; 366: 44-53. PMID:22216841                                                                                                                                                                    
  29. Méplan C, Hughes DJ, Pardini B, Naccareti A, Souček P, Vodickova L, Hlavata I, Vrana D, Vodicka P, Hesketh J. Genetic Variants in Selenoprotein Genes Increase Risk of Colorectal Cancer. Carcinogenesis 2010 Jun; 31(6): 1074-9. PMID: 20378690                                                                                                                                                                 
  30. Hughes DJ. Use of Association Studies to Define Genetic Modifiers of Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. Familial Cancer 2008; 7: 233-244. PMID: 18283561                                                                                                                           
  31. Antoniou AC, Sinilnikova OM, Simard J, Léoné M, Dumont M, Neuhausen SL, Struewing JP, Stoppa Lyonnet D, Barjhoux L, Hughes DJ, et al, Couch F, Easton DF and Chenevix-Trench G on behalf of CIMBA. RAD51 135G/C modifies breast cancer risk among BRCA2 mutation carriers: Results from a combined analysis of 19 studies. Am J Hum Genet 2007; 81: 1186-1200. PMID: 17999359                                                                                                 
  32. Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, et al, Sangrajrang S, Hughes D, Odefrey F, et al, Pharoah PD, Easton DF; on behalf of the Breast Cancer Association Consortium. A common coding variant in CASP8 is associated with breast cancer risk. Nature Genetics 2007; 39: 352-8. PMID: 17293864                                                                                                                                                             
  33. The Breast Cancer Association Consortium (BCAC). Commonly Studied Single-Nucleotide Polymorphisms and Breast Cancer: Results from the Breast Cancer Association Consortium. Journal of the National Cancer Institute 2006; 98; 1382-96. PMID: 17018785                                                                                                                                       
  34. Hughes DJ, Ginolhac SM, Coupier I, Barjhoux L, Gaborieau V, et al. Modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers with polyglutamine repeat length in the AIB1 gene. Int J Cancer 2005; 117: 230-233. PMID: 15900600                                                                                                                                                                                    
  35. Hughes D, Ginolhac SM, Coupier I, Corbex M, et al. Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. Cancer Epidemiol Biomark Prev 2005; 14; 265-267. PMID: 15668505                                                                                                                                                                                                                                    
  36. Hughes D, Dörk T, Sthurmann M, Graham C. Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland. J Med Genet 2001; 38: 136-139. PMID: 11288718                                                                                                                                                                  
  37. Hughes D, Hill A, Macek M Jr, Redmond A, Nevin N, Graham C. Mutation Characterization of CFTR Gene in 206 Northern Irish CF Families: 30 Mutations, Two of which are Novel, Account for 94% of CF Chromosomes. Human Mutation 1996; 8: 340-347. PMID: 8956039                                                                       
  38. Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C. Fluorescent Multiplex Microsatellites used to Define Haplotypes Associated with 75 CFTR Mutations from the UK on 437 CF Chromosomes. Human Mutation 1996; 8: 229-235. PMID: 8889582                                                      
  39. Hughes D, Hill A, Redmond A, Nevin N, Graham C. Fluorescent Multiplex Microsatellites used to identify Haplotype Associations with 15 CFTR Mutations in 124 Northern Irish CF Families. Human Genetics 1995; 95: 462-464. PMID: 7535745                                                                                                                                                                                                                                                             
  40. Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, Mullan M. Early-onset Alzheimer’s disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature 1991; 353: 844-846. PMID:1944558

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