Keywords
Last Name

Gyungah Jun, PhD

TitleAdjunct Assistant Professor
InstitutionBoston University School of Medicine
DepartmentMedicine
DivisionBiomedical Genetics
Address72 E. Concord St Instructional (L)
Boston MA 02118
Phone(617) 638-5040
ORCID ORCID Icon0000-0002-3230-8697
 Research Expertise & Professional Interests
Dr. Jun has worked in a broad spectrum of medical fields including wet-lab based researches including purification and characterization of a B-lymphocyte inducing factor (BIF) using single cell cloning of human myeloma cell line and mouse models and establishment of human neuronal cell lines, and dry-lab (computational) researches including development of DNA pattern recognition program, investigation of loci involved in progression of type 2 diabetes, genome-wide linkage and association analyses for druse formation, age-related macular degeneration, cataract, and diabetic nephropathy using worldwide longitudinal cohorts, and identification of causal variants in an axon guidance molecule for age-related cortical cataract using targeted sequencing projects. She has also been involved in large genetics consortiums for diabetic nephropathy, age-related macular degeneration, age-related cataract, and Alzheimer’s disease. In these collaborative efforts, much of her work is engaged in study design, development of analysis plan, database development and management, implementation of statistical methods, and translational study design for drug discovery. Her current projects encompass multidisciplinary areas: (1) identify early biomarkers for Alzheimer disease in lens by identifying shared genetic markers for eye and brain related neurodegenerative phenotypes using sequencing and genome-wide linkage and association studies, (2) screen potential drug targets and risk screening tools for Alzheimer disease by investigating genetic architecture of DNA and mRNA from genes in axon guidance molecules, (3) discover causal mutations for idiopathic membranous nephropathy by sequencing candidate genes from multiethnic groups of subjects, (4) develop novel analytical and bioinformatics tools for bivariate framework on gene-gene and gene-environment interaction analyses, and (5) lead statistical analysis groups for international and nation-wide consortia for Alzheimer disease and eye diseases using genome-wide association data, whole exome and whole genome sequencing projects.

Research Interests:
Statistical genetics
Genetic Epidemiology
Develop large consortium database
Develop software
Neurology
Ophthalmology

 Self-Described Keywords
  • Bioinformatics
  • Computational Biology
  • Epidemiology
  • Genetics
  • Neurology
  • Ophthalmology
  • Statistics
 Publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
List All   |   Timeline
  1. Jun GR, Chung J, Mez J, Barber R, Beecham GW, Bennett DA, Buxbaum JD, Byrd GS, Carrasquillo MM, Crane PK, Cruchaga C, De Jager P, Ertekin-Taner N, Evans D, Fallin MD, Foroud TM, Friedland RP, Goate AM, Graff-Radford NR, Hendrie H, Hall KS, Hamilton-Nelson KL, Inzelberg R, Kamboh MI, Kauwe JS, Kukull WA, Kunkle BW, Kuwano R, Larson EB, Logue MW, Manly JJ, Martin ER, Montine TJ, Mukherjee S, Naj A, Reiman EM, Reitz C, Sherva R, St George-Hyslop PH, Thornton T, Younkin SG, Vardarajan BN, Wang LS, Wendlund JR, Winslow AR. Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimers Dement. 2017 Feb 07. PMID: 28183528.
    View in: PubMed
  2. Mez J, Chung J, Jun G, Kriegel J, Bourlas AP, Sherva R, Logue MW, Barnes LL, Bennett DA, Buxbaum JD, Byrd GS, Crane PK, Ertekin-Taner N, Evans D, Fallin MD, Foroud T, Goate A, Graff-Radford NR, Hall KS, Kamboh MI, Kukull WA, Larson EB, Manly JJ. Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. Alzheimers Dement. 2017 Feb; 13(2):119-129. PMID: 27770636.
    View in: PubMed
  3. Tan AG, Kifley A, Mitchell P, Rochtchina E, Flood VM, Cumming RG, Jun G, Holliday EG, Scott RJ, Teo YY, Klein BE, Cheng CY, Iyengar SK, Wang JJ. Associations Between Methylenetetrahydrofolate Reductase Polymorphisms, Serum Homocysteine Levels, and Incident Cortical Cataract. JAMA Ophthalmol. 2016 Mar 17. PMID: 26986182.
    View in: PubMed
  4. Ridge PG, Hoyt KB, Boehme K, Mukherjee S, Crane PK, Haines JL, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD, Kauwe JS. Assessment of the genetic variance of late-onset Alzheimer's disease. Neurobiol Aging. 2016 May; 41:200.e13-20. PMID: 27036079.
    View in: PubMed
  5. Ghani M, Reitz C, Cheng R, Vardarajan BN, Jun G, Sato C, Naj A, Rajbhandary R, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith PA, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Lee JH, Schellenberg GD, St George-Hyslop P, Mayeux R, Rogaeva E. Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. JAMA Neurol. 2015 Nov; 72(11):1313-23. PMID: 26366463.
    View in: PubMed
  6. Hohman TJ, Cooke-Bailey JN, Reitz C, Jun G, Naj A, Beecham GW, Liu Z, Carney RM, Vance JM, Cuccaro ML, Rajbhandary R, Vardarajan BN, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue MW, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith P, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hardy J, Hendrie HC, Hall KS, Goate AM, Lang R, Byrd GS, Kukull WA, Foroud TM, Farrer LA, Martin ER, Pericak-Vance MA, Schellenberg GD, Mayeux R, Haines JL, Thornton-Wells TA. Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. Alzheimers Dement. 2016 Mar; 12(3):233-43. PMID: 26092349.
    View in: PubMed
  7. Østergaard SD, Mukherjee S, Sharp SJ, Proitsi P, Lotta LA, Day F, Perry JR, Boehme KL, Walter S, Kauwe JS, Gibbons LE. Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study. PLoS Med. 2015 Jun; 12(6):e1001841; discussion e1001841. PMID: 26079503.
    View in: PubMed
  8. Mukherjee S, Walter S, Kauwe JS, Saykin AJ, Bennett DA, Larson EB, Crane PK, Glymour MM. Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses. Alzheimers Dement. 2015 Dec; 11(12):1439-51. PMID: 26079416.
    View in: PubMed
  9. Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L. A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry. 2016 Jan; 21(1):108-17. PMID: 25778476.
    View in: PubMed
  10. Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E. Rarity of the Alzheimer disease-protective APP A673T variant in the United States. JAMA Neurol. 2015 Feb; 72(2):209-16. PMID: 25531812.
    View in: PubMed
  11. Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, Kramer PL, Ertekin-Taner N, Hardy J, Graff-Radford NR, Green RC, Larson EB, St George-Hyslop PH, Buxbaum JD, Evans DA, Schneider JA, Lunetta KL, Kamboh MI, Saykin AJ, Reiman EM, De Jager PL, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Martin ER, Haines JL, Mayeux RP, Farrer LA, Schellenberg GD, Pericak-Vance MA. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. JAMA Neurol. 2014 Nov; 71(11):1394-404. PMID: 25199842.
    View in: PubMed
  12. Jun G, Asai H, Zeldich E, Drapeau E, Chen C, Chung J, Park JH, Kim S, Haroutunian V, Foroud T, Kuwano R, Haines JL, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Kim JW, Buxbaum JD, Mayeux R, Ikezu T, Abraham CR, Farrer LA. PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation. Ann Neurol. 2014 Sep; 76(3):379-92. PMID: 25043464.
    View in: PubMed
  13. Liao J, Su X, Chen P, Wang X, Xu L, Li X, Thean L, Tan C, Tan AG, Tay WT, Jun G, Zheng Y, Chew M, Wang YX, Tan QS, Barathi VA, Klein BE, Saw SM, Vithana EN, Tai ES, Iyengar SK, Mitchell P, Khor CC, Aung T, Wang JJ, Jonas JB, Teo YY, Wong TY, Cheng CY. Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. Hum Mol Genet. 2014 Nov 15; 23(22):6119-28. PMID: 24951543.
    View in: PubMed
  14. Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One. 2014; 9(6):e94661. PMID: 24922517.
    View in: PubMed
  15. Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, Bellenguez C, Brown K, Medway C, Haddick PC, van der Brug MP, Bhangale T, Ortmann W, Behrens T, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Turton J, Braae A, Barber I, Fagan AM, Holtzman DM, Morris JC. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging. 2014 Jun; 35(6):1510.e19-26. PMID: 24439484.
    View in: PubMed
  16. Logue MW, Schu M, Vardarajan BN, Farrell J, Lunetta KL, Jun G, Baldwin CT, Deangelis MM, Farrer LA. Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways. Neurobiol Aging. 2014 Jun; 35(6):1510.e7-18. PMID: 24439028.
    View in: PubMed
  17. Ridge PG, Mukherjee S, Crane PK, Kauwe JS. Alzheimer's disease: analyzing the missing heritability. PLoS One. 2013; 8(11):e79771. PMID: 24244562.
    View in: PubMed
  18. Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MW, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuiness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Deniz Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet. 2013 Dec; 45(12):1452-8. PMID: 24162737.
    View in: PubMed
  19. Reitz C, Mayeux R. TREM2 and neurodegenerative disease. N Engl J Med. 2013 Oct 17; 369(16):1564-5. PMID: 24131184.
    View in: PubMed
  20. Reitz C, Tosto G, Vardarajan B, Rogaeva E, Ghani M, Rogers RS, Conrad C, Haines JL, Pericak-Vance MA, Fallin MD, Foroud T, Farrer LA, Schellenberg GD, George-Hyslop PS, Mayeux R. Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP). Transl Psychiatry. 2013; 3:e256. PMID: 23673467.
    View in: PubMed
  21. Reitz C, Jun G, Naj A, Rajbhandary R, Vardarajan BN, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith P, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Mayeux R. Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ?4,and the risk of late-onset Alzheimer disease in African Americans. JAMA. 2013 Apr 10; 309(14):1483-92. PMID: 23571587.
    View in: PubMed
  22. Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga M, Kawase Y, Akatsu H, Kosaka K, Yamamoto T, Imagawa M, Hamaguchi T, Yamada M, Moriaha T, Takeda M, Takao T, Nakata K, Fujisawa Y, Sasaki K, Watanabe K, Nakashima K, Urakami K, Ooya T, Takahashi M, Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Kim JW, Ki CS, Won HH, Na DL, Seo SW, Mook-Jung I. SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PLoS One. 2013; 8(4):e58618. PMID: 23565137.
    View in: PubMed
  23. Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager PL, Farrer LA, Saykin AJ, Shulman JM, Naj A, Green RC. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. Alzheimers Dement. 2014 Jan; 10(1):45-52. PMID: 23535033.
    View in: PubMed
  24. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR. Seven new loci associated with age-related macular degeneration. Nat Genet. 2013 Apr; 45(4):433-9, 439e1-2. PMID: 23455636.
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  25. Whitcomb DC, LaRusch J, Krasinskas AM, Klei L, Smith JP, Brand RE, Neoptolemos JP, Lerch MM, Tector M, Sandhu BS, Guda NM, Orlichenko L. Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Nat Genet. 2012 Dec; 44(12):1349-54. PMID: 23143602.
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  26. Jun G, Vardarajan BN, Buros J, Yu CE, Hawk MV, Dombroski BA, Crane PK, Larson EB. Comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol. 2012 Oct; 69(10):1270-9. PMID: 22869155.
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  27. Jun G, Moncaster JA, Koutras C, Seshadri S, Buros J, McKee AC, Levesque G, Wolf PA, St George-Hyslop P, Goldstein LE, Farrer LA. d-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. PLoS One. 2012; 7(9):e43728. PMID: 22984439.
    View in: PubMed
  28. Melville SA, Buros J, Parrado AR, Vardarajan B, Logue MW, Shen L, Risacher SL, Kim S, Jun G, DeCarli C, Lunetta KL, Baldwin CT, Saykin AJ, Farrer LA. Multiple loci influencing hippocampal degeneration identified by genome scan. Ann Neurol. 2012 Jul; 72(1):65-75. PMID: 22745009.
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  29. Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, Lincoln S, Bisceglio G, Georgescu C, Schultz D, Rakhshan F, Kolbert CP, Jen J, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD. Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology. 2012 Jul 17; 79(3):221-8. PMID: 22722634.
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  30. Choi SH, Liu C, Dupuis J, Logue MW, Jun G. Using linkage analysis of large pedigrees to guide association analyses. BMC Proc. 2011; 5 Suppl 9:S79. PMID: 22373287.
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  31. Sivakumaran TA, Igo RP, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, Stambolian DE, Edwards AO, Lee KE, Leontiev DV, Jun G, Wang Y, Tian L, Qiu F, Henning AK, LaFramboise T, Sen P, Aarthi M, George R, Raman R, Das MK, Vijaya L, Kumaramanickavel G, Wong TY, Swaroop A, Abecasis GR, Klein R, Klein BE, Nickerson DA, Eichler EE, Iyengar SK. A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One. 2011; 6(10):e25598. PMID: 22022419.
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  32. Jun G, Nicolaou M, Morrison MA, Buros J, Morgan DJ, Radeke MJ, Yonekawa Y, Tsironi EE, Kotoula MG, Zacharaki F, Mollema N, Yuan Y, Miller JW, Haider NB, Hageman GS, Kim IK, Schaumberg DA, Farrer LA, DeAngelis MM. Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology. PLoS One. 2011; 6(10):e25775. PMID: 21998696.
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  33. Morrison MA, Silveira AC, Huynh N, Jun G, Smith SE, Zacharaki F, Sato H, Loomis S, Andreoli MT, Adams SM, Radeke MJ, Jelcick AS, Yuan Y, Tsiloulis AN, Chatzoulis DZ, Silvestri G, Kotoula MG, Tsironi EE, Hollis BW, Chen R, Haider NB, Miller JW, Farrer LA, Hageman GS, Kim IK, Schaumberg DA, DeAngelis MM. Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration. Hum Genomics. 2011 Oct; 5(6):538-68. PMID: 22155603.
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  34. Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, St George-Hyslop P, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Parisi JE, Perl DP, Peskind E, Petersen RC, Poon WW, Quinn JF, Rajbhandary RA, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosenberg RN, Sano M, Schneider LS, Seeley W, Shelanski ML, Slifer MA, Smith CD, Sonnen JA, Spina S, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL, Cantwell LB, Dombroski BA, Beekly D, Lunetta KL, Martin ER, Kamboh MI, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet. 2011 May; 43(5):436-41. PMID: 21460841.
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  35. Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol. 2010 Dec; 67(12):1473-84. PMID: 20697030.
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  36. Malhotra A, Igo RP, Thameem F, Kao WH, Abboud HE, Adler SG, Arar NH, Bowden DW, Duggirala R, Freedman BI, Goddard KA, Ipp E, Iyengar SK, Kimmel PL, Knowler WC, Kohn O, Leehey D, Meoni LA, Nelson RG, Nicholas SB, Parekh RS, Rich SS, Chen YD, Saad MF, Scavini M, Schelling JR, Sedor JR, Shah VO, Taylor KD, Thornley-Brown D, Zager PG, Horvath A, Hanson RL. Genome-wide linkage scans for type 2 diabetes mellitus in four ethnically diverse populations-significant evidence for linkage on chromosome 4q in African Americans: the Family Investigation of Nephropathy and Diabetes Research Group. Diabetes Metab Res Rev. 2009 Nov; 25(8):740-7. PMID: 19795399.
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