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Items: 45

1.

Robust meta-analysis of biobank-based genome-wide association studies with unbalanced binary phenotypes.

Dey R, Nielsen JB, Fritsche LG, Zhou W, Zhu H, Willer CJ, Lee S.

Genet Epidemiol. 2019 Feb 22. doi: 10.1002/gepi.22197. [Epub ahead of print]

PMID:
30793809
2.

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.

Ratnapriya R, Sosina OA, Starostik MR, Kwicklis M, Kapphahn RJ, Fritsche LG, Walton A, Arvanitis M, Gieser L, Pietraszkiewicz A, Montezuma SR, Chew EY, Battle A, Abecasis GR, Ferrington DA, Chatterjee N, Swaroop A.

Nat Genet. 2019 Feb 11. doi: 10.1038/s41588-019-0351-9. [Epub ahead of print]

PMID:
30742112
3.

Evidence of a causal relationship between body mass index and psoriasis: A mendelian randomization study.

Budu-Aggrey A, Brumpton B, Tyrrell J, Watkins S, Modalsli EH, Celis-Morales C, Ferguson LD, Vie GÅ, Palmer T, Fritsche LG, Løset M, Nielsen JB, Zhou W, Tsoi LC, Wood AR, Jones SE, Beaumont R, Saunes M, Romundstad PR, Siebert S, McInnes IB, Elder JT, Davey Smith G, Frayling TM, Åsvold BO, Brown SJ, Sattar N, Paternoster L.

PLoS Med. 2019 Jan 31;16(1):e1002739. doi: 10.1371/journal.pmed.1002739. eCollection 2019 Jan.

4.

Variation in Serum PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9), Cardiovascular Disease Risk, and an Investigation of Potential Unanticipated Effects of PCSK9 Inhibition.

Brumpton BM, Fritsche LG, Zheng J, Nielsen JB, Mannila M, Surakka I, Rasheed H, Vie GÅ, Graham SE, Gabrielsen ME, Laugsand LE, Aukrust P, Vatten LJ, Damås JK, Ueland T, Janszky I, Zwart JA, Van't Hooft FM, Seidah NG, Hveem K, Willer C, Smith GD, Åsvold BO; INVENT Consortium.

Circ Genom Precis Med. 2019 Jan;12(1):e002335. doi: 10.1161/CIRCGEN.118.002335. No abstract available.

PMID:
30645169
5.

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.

Liu M, Jiang Y, Wedow R, Li Y, Brazel DM, Chen F, Datta G, Davila-Velderrain J, McGuire D, Tian C, Zhan X; 23andMe Research Team; HUNT All-In Psychiatry, Choquet H, Docherty AR, Faul JD, Foerster JR, Fritsche LG, Gabrielsen ME, Gordon SD, Haessler J, Hottenga JJ, Huang H, Jang SK, Jansen PR, Ling Y, Mägi R, Matoba N, McMahon G, Mulas A, Orrù V, Palviainen T, Pandit A, Reginsson GW, Skogholt AH, Smith JA, Taylor AE, Turman C, Willemsen G, Young H, Young KA, Zajac GJM, Zhao W, Zhou W, Bjornsdottir G, Boardman JD, Boehnke M, Boomsma DI, Chen C, Cucca F, Davies GE, Eaton CB, Ehringer MA, Esko T, Fiorillo E, Gillespie NA, Gudbjartsson DF, Haller T, Harris KM, Heath AC, Hewitt JK, Hickie IB, Hokanson JE, Hopfer CJ, Hunter DJ, Iacono WG, Johnson EO, Kamatani Y, Kardia SLR, Keller MC, Kellis M, Kooperberg C, Kraft P, Krauter KS, Laakso M, Lind PA, Loukola A, Lutz SM, Madden PAF, Martin NG, McGue M, McQueen MB, Medland SE, Metspalu A, Mohlke KL, Nielsen JB, Okada Y, Peters U, Polderman TJC, Posthuma D, Reiner AP, Rice JP, Rimm E, Rose RJ, Runarsdottir V, Stallings MC, Stančáková A, Stefansson H, Thai KK, Tindle HA, Tyrfingsson T, Wall TL, Weir DR, Weisner C, Whitfield JB, Winsvold BS, Yin J, Zuccolo L, Bierut LJ, Hveem K, Lee JJ, Munafò MR, Saccone NL, Willer CJ, Cornelis MC, David SP, Hinds DA, Jorgenson E, Kaprio J, Stitzel JA, Stefansson K, Thorgeirsson TE, Abecasis G, Liu DJ, Vrieze S.

Nat Genet. 2019 Feb;51(2):237-244. doi: 10.1038/s41588-018-0307-5. Epub 2019 Jan 14.

PMID:
30643251
6.

First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

Cousminer DL, Ahlqvist E, Mishra R, Andersen MK, Chesi A, Hawa MI, Davis A, Hodge KM, Bradfield JP, Zhou K, Guy VC, Åkerlund M, Wod M, Fritsche LG, Vestergaard H, Snyder J, Højlund K, Linneberg A, Käräjämäki A, Brandslund I, Kim CE, Witte D, Sørgjerd EP, Brillon DJ, Pedersen O, Beck-Nielsen H, Grarup N, Pratley RE, Rickels MR, Vella A, Ovalle F, Melander O, Harris RI, Varvel S, Grill VER; Bone Mineral Density in Childhood Study, Hakonarson H, Froguel P, Lonsdale JT, Mauricio D, Schloot NC, Khunti K, Greenbaum CJ, Åsvold BO, Yderstræde KB, Pearson ER, Schwartz S, Voight BF, Hansen T, Tuomi T, Boehm BO, Groop L, Leslie RD, Grant SFA.

Diabetes Care. 2018 Nov;41(11):2396-2403. doi: 10.2337/dc18-1032. Epub 2018 Sep 25.

PMID:
30254083
7.

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Zhou W, Nielsen JB, Fritsche LG, Dey R, Gabrielsen ME, Wolford BN, LeFaive J, VandeHaar P, Gagliano SA, Gifford A, Bastarache LA, Wei WQ, Denny JC, Lin M, Hveem K, Kang HM, Abecasis GR, Willer CJ, Lee S.

Nat Genet. 2018 Sep;50(9):1335-1341. doi: 10.1038/s41588-018-0184-y. Epub 2018 Aug 13.

8.

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

Nielsen JB, Thorolfsdottir RB, Fritsche LG, Zhou W, Skov MW, Graham SE, Herron TJ, McCarthy S, Schmidt EM, Sveinbjornsson G, Surakka I, Mathis MR, Yamazaki M, Crawford RD, Gabrielsen ME, Skogholt AH, Holmen OL, Lin M, Wolford BN, Dey R, Dalen H, Sulem P, Chung JH, Backman JD, Arnar DO, Thorsteinsdottir U, Baras A, O'Dushlaine C, Holst AG, Wen X, Hornsby W, Dewey FE, Boehnke M, Kheterpal S, Mukherjee B, Lee S, Kang HM, Holm H, Kitzman J, Shavit JA, Jalife J, Brummett CM, Teslovich TM, Carey DJ, Gudbjartsson DF, Stefansson K, Abecasis GR, Hveem K, Willer CJ.

Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30.

PMID:
30061737
9.

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

Schmit SL, Edlund CK, Schumacher FR, Gong J, Harrison TA, Huyghe JR, Qu C, Melas M, Van Den Berg DJ, Wang H, Tring S, Plummer SJ, Albanes D, Alonso MH, Amos CI, Anton K, Aragaki AK, Arndt V, Barry EL, Berndt SI, Bezieau S, Bien S, Bloomer A, Boehm J, Boutron-Ruault MC, Brenner H, Brezina S, Buchanan DD, Butterbach K, Caan BJ, Campbell PT, Carlson CS, Castelao JE, Chan AT, Chang-Claude J, Chanock SJ, Cheng I, Cheng YW, Chin LS, Church JM, Church T, Coetzee GA, Cotterchio M, Cruz Correa M, Curtis KR, Duggan D, Easton DF, English D, Feskens EJM, Fischer R, FitzGerald LM, Fortini BK, Fritsche LG, Fuchs CS, Gago-Dominguez M, Gala M, Gallinger SJ, Gauderman WJ, Giles GG, Giovannucci EL, Gogarten SM, Gonzalez-Villalpando C, Gonzalez-Villalpando EM, Grady WM, Greenson JK, Gsur A, Gunter M, Haiman CA, Hampe J, Harlid S, Harju JF, Hayes RB, Hofer P, Hoffmeister M, Hopper JL, Huang SC, Huerta JM, Hudson TJ, Hunter DJ, Idos GE, Iwasaki M, Jackson RD, Jacobs EJ, Jee SH, Jenkins MA, Jia WH, Jiao S, Joshi AD, Kolonel LN, Kono S, Kooperberg C, Krogh V, Kuehn T, Küry S, LaCroix A, Laurie CA, Lejbkowicz F, Lemire M, Lenz HJ, Levine D, Li CI, Li L, Lieb W, Lin Y, Lindor NM, Liu YR, Loupakis F, Lu Y, Luh F, Ma J, Mancao C, Manion FJ, Markowitz SD, Martin V, Matsuda K, Matsuo K, McDonnell KJ, McNeil CE, Milne R, Molina AJ, Mukherjee B, Murphy N, Newcomb PA, Offit K, Omichessan H, Palli D, Cotoré JPP, Pérez-Mayoral J, Pharoah PD, Potter JD, Qu C, Raskin L, Rennert G, Rennert HS, Riggs BM, Schafmayer C, Schoen RE, Sellers TA, Seminara D, Severi G, Shi W, Shibata D, Shu XO, Siegel EM, Slattery ML, Southey M, Stadler ZK, Stern MC, Stintzing S, Taverna D, Thibodeau SN, Thomas DC, Trichopoulou A, Tsugane S, Ulrich CM, van Duijnhoven FJB, van Guelpan B, Vijai J, Virtamo J, Weinstein SJ, White E, Win AK, Wolk A, Woods M, Wu AH, Wu K, Xiang YB, Yen Y, Zanke BW, Zeng YX, Zhang B, Zubair N, Kweon SS, Figueiredo JC, Zheng W, Marchand LL, Lindblom A, Moreno V, Peters U, Casey G, Hsu L, Conti DV, Gruber SB.

J Natl Cancer Inst. 2019 Feb 1;111(2):146-157. doi: 10.1093/jnci/djy099.

PMID:
29917119
10.

Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.

Lorés-Motta L, Riaz M, Grunin M, Corominas J, van Asten F, Pauper M, Leenders M, Richardson AJ, Muether P, Cree AJ, Griffiths HL, Pham C, Belanger MC, Meester-Smoor MA, Ali M, Heid IM, Fritsche LG, Chakravarthy U, Gale R, McKibbin M, Inglehearn CF, Schlingemann RO, Omar A, Chen J, Koenekoop RK, Fauser S, Guymer RH, Hoyng CB, de Jong EK, Lotery AJ, Mitchell P, den Hollander AI, Baird PN, Chowers I.

JAMA Ophthalmol. 2018 Aug 1;136(8):875-884. doi: 10.1001/jamaophthalmol.2018.2019.

11.

Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.

Fritsche LG, Gruber SB, Wu Z, Schmidt EM, Zawistowski M, Moser SE, Blanc VM, Brummett CM, Kheterpal S, Abecasis GR, Mukherjee B.

Am J Hum Genet. 2018 Jun 7;102(6):1048-1061. doi: 10.1016/j.ajhg.2018.04.001. Epub 2018 May 17.

12.

Geographic distribution of rare variants associated with age-related macular degeneration.

Geerlings MJ, Kersten E, Groenewoud JMM, Fritsche LG, Hoyng CB, de Jong EK, den Hollander AI.

Mol Vis. 2018 Jan 27;24:75-82. eCollection 2018.

13.

Genome-wide analysis of disease progression in age-related macular degeneration.

Yan Q, Ding Y, Liu Y, Sun T, Fritsche LG, Clemons T, Ratnapriya R, Klein ML, Cook RJ, Liu Y, Fan R, Wei L, Abecasis GR, Swaroop A, Chew EY; AREDS2 Research Group, Weeks DE, Chen W.

Hum Mol Genet. 2018 Mar 1;27(5):929-940. doi: 10.1093/hmg/ddy002.

14.

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.

Nielsen JB, Fritsche LG, Zhou W, Teslovich TM, Holmen OL, Gustafsson S, Gabrielsen ME, Schmidt EM, Beaumont R, Wolford BN, Lin M, Brummett CM, Preuss MH, Refsgaard L, Bottinger EP, Graham SE, Surakka I, Chu Y, Skogholt AH, Dalen H, Boyle AP, Oral H, Herron TJ, Kitzman J, Jalife J, Svendsen JH, Olesen MS, Njølstad I, Løchen ML, Baras A, Gottesman O, Marcketta A, O'Dushlaine C, Ritchie MD, Wilsgaard T, Loos RJF, Frayling TM, Boehnke M, Ingelsson E, Carey DJ, Dewey FE, Kang HM, Abecasis GR, Hveem K, Willer CJ.

Am J Hum Genet. 2018 Jan 4;102(1):103-115. doi: 10.1016/j.ajhg.2017.12.003. Epub 2017 Dec 28.

15.

Exome-wide association study of plasma lipids in >300,000 individuals.

Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C, Alam D, Alves AC, Amouyel P, Di Angelantonio E, Arveiler D, Assimes TL, Auer PL, Baber U, Ballantyne CM, Bang LE, Benn M, Bis JC, Boehnke M, Boerwinkle E, Bork-Jensen J, Bottinger EP, Brandslund I, Brown M, Busonero F, Caulfield MJ, Chambers JC, Chasman DI, Chen YE, Chen YI, Chowdhury R, Christensen C, Chu AY, Connell JM, Cucca F, Cupples LA, Damrauer SM, Davies G, Deary IJ, Dedoussis G, Denny JC, Dominiczak A, Dubé MP, Ebeling T, Eiriksdottir G, Esko T, Farmaki AE, Feitosa MF, Ferrario M, Ferrieres J, Ford I, Fornage M, Franks PW, Frayling TM, Frikke-Schmidt R, Fritsche LG, Frossard P, Fuster V, Ganesh SK, Gao W, Garcia ME, Gieger C, Giulianini F, Goodarzi MO, Grallert H, Grarup N, Groop L, Grove ML, Gudnason V, Hansen T, Harris TB, Hayward C, Hirschhorn JN, Holmen OL, Huffman J, Huo Y, Hveem K, Jabeen S, Jackson AU, Jakobsdottir J, Jarvelin MR, Jensen GB, Jørgensen ME, Jukema JW, Justesen JM, Kamstrup PR, Kanoni S, Karpe F, Kee F, Khera AV, Klarin D, Koistinen HA, Kooner JS, Kooperberg C, Kuulasmaa K, Kuusisto J, Laakso M, Lakka T, Langenberg C, Langsted A, Launer LJ, Lauritzen T, Liewald DCM, Lin LA, Linneberg A, Loos RJF, Lu Y, Lu X, Mägi R, Malarstig A, Manichaikul A, Manning AK, Mäntyselkä P, Marouli E, Masca NGD, Maschio A, Meigs JB, Melander O, Metspalu A, Morris AP, Morrison AC, Mulas A, Müller-Nurasyid M, Munroe PB, Neville MJ, Nielsen JB, Nielsen SF, Nordestgaard BG, Ordovas JM, Mehran R, O'Donnell CJ, Orho-Melander M, Molony CM, Muntendam P, Padmanabhan S, Palmer CNA, Pasko D, Patel AP, Pedersen O, Perola M, Peters A, Pisinger C, Pistis G, Polasek O, Poulter N, Psaty BM, Rader DJ, Rasheed A, Rauramaa R, Reilly DF, Reiner AP, Renström F, Rich SS, Ridker PM, Rioux JD, Robertson NR, Roden DM, Rotter JI, Rudan I, Salomaa V, Samani NJ, Sanna S, Sattar N, Schmidt EM, Scott RA, Sever P, Sevilla RS, Shaffer CM, Sim X, Sivapalaratnam S, Small KS, Smith AV, Smith BH, Somayajula S, Southam L, Spector TD, Speliotes EK, Starr JM, Stirrups KE, Stitziel N, Strauch K, Stringham HM, Surendran P, Tada H, Tall AR, Tang H, Tardif JC, Taylor KD, Trompet S, Tsao PS, Tuomilehto J, Tybjaerg-Hansen A, van Zuydam NR, Varbo A, Varga TV, Virtamo J, Waldenberger M, Wang N, Wareham NJ, Warren HR, Weeke PE, Weinstock J, Wessel J, Wilson JG, Wilson PWF, Xu M, Yaghootkar H, Young R, Zeggini E, Zhang H, Zheng NS, Zhang W, Zhang Y, Zhou W, Zhou Y, Zoledziewska M; Charge Diabetes Working Group; EPIC-InterAct Consortium; EPIC-CVD Consortium; GOLD Consortium; VA Million Veteran Program, Howson JMM, Danesh J, McCarthy MI, Cowan CA, Abecasis G, Deloukas P, Musunuru K, Willer CJ, Kathiresan S.

Nat Genet. 2017 Dec;49(12):1758-1766. doi: 10.1038/ng.3977. Epub 2017 Oct 30.

16.

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X, Peloso GM, Liu DJ, Wu Y, Zhang H, Zhou W, Li J, Tang CS, Dorajoo R, Li H, Long J, Guo X, Xu M, Spracklen CN, Chen Y, Liu X, Zhang Y, Khor CC, Liu J, Sun L, Wang L, Gao YT, Hu Y, Yu K, Wang Y, Cheung CYY, Wang F, Huang J, Fan Q, Cai Q, Chen S, Shi J, Yang X, Zhao W, Sheu WH, Cherny SS, He M, Feranil AB, Adair LS, Gordon-Larsen P, Du S, Varma R, Chen YI, Shu XO, Lam KSL, Wong TY, Ganesh SK, Mo Z, Hveem K, Fritsche LG, Nielsen JB, Tse HF, Huo Y, Cheng CY, Chen YE, Zheng W, Tai ES, Gao W, Lin X, Huang W, Abecasis G; GLGC Consortium, Kathiresan S, Mohlke KL, Wu T, Sham PC, Gu D, Willer CJ.

Nat Genet. 2017 Dec;49(12):1722-1730. doi: 10.1038/ng.3978. Epub 2017 Oct 30.

17.

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Ferreira MA, Vonk JM, Baurecht H, Marenholz I, Tian C, Hoffman JD, Helmer Q, Tillander A, Ullemar V, van Dongen J, Lu Y, Rüschendorf F, Esparza-Gordillo J, Medway CW, Mountjoy E, Burrows K, Hummel O, Grosche S, Brumpton BM, Witte JS, Hottenga JJ, Willemsen G, Zheng J, Rodríguez E, Hotze M, Franke A, Revez JA, Beesley J, Matheson MC, Dharmage SC, Bain LM, Fritsche LG, Gabrielsen ME, Balliu B; 23andMe Research Team; AAGC collaborators; BIOS consortium; LifeLines Cohort Study, Nielsen JB, Zhou W, Hveem K, Langhammer A, Holmen OL, Løset M, Abecasis GR, Willer CJ, Arnold A, Homuth G, Schmidt CO, Thompson PJ, Martin NG, Duffy DL, Novak N, Schulz H, Karrasch S, Gieger C, Strauch K, Melles RB, Hinds DA, Hübner N, Weidinger S, Magnusson PKE, Jansen R, Jorgenson E, Lee YA, Boomsma DI, Almqvist C, Karlsson R, Koppelman GH, Paternoster L.

Nat Genet. 2017 Dec;49(12):1752-1757. doi: 10.1038/ng.3985. Epub 2017 Oct 30.

18.

Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels.

Zhou W, Fritsche LG, Das S, Zhang H, Nielsen JB, Holmen OL, Chen J, Lin M, Elvestad MB, Hveem K, Abecasis GR, Kang HM, Willer CJ.

Genet Epidemiol. 2017 Dec;41(8):744-755. doi: 10.1002/gepi.22067. Epub 2017 Sep 1.

19.

A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies.

Yang J, Fritsche LG, Zhou X, Abecasis G; International Age-Related Macular Degeneration Genomics Consortium.

Am J Hum Genet. 2017 Sep 7;101(3):404-416. doi: 10.1016/j.ajhg.2017.08.002. Epub 2017 Aug 24.

20.

Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores.

Ding Y, Liu Y, Yan Q, Fritsche LG, Cook RJ, Clemons T, Ratnapriya R, Klein ML, Abecasis GR, Swaroop A, Chew EY, Weeks DE, Chen W; AREDS2 Research Group.

Genetics. 2017 May;206(1):119-133. doi: 10.1534/genetics.116.196998. Epub 2017 Mar 24.

21.

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.

Cornelis SS, Bax NM, Zernant J, Allikmets R, Fritsche LG, den Dunnen JT, Ajmal M, Hoyng CB, Cremers FP.

Hum Mutat. 2017 Apr;38(4):400-408. doi: 10.1002/humu.23165. Epub 2017 Feb 3.

PMID:
28044389
22.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA Jr, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM.

Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21.

23.

No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38.

Chew EY, Klein ML, Clemons TE, Agrón E, Ratnapriya R, Edwards AO, Fritsche LG, Swaroop A, Abecasis GR; Age-Related Eye Disease Study Research Group.

Ophthalmology. 2014 Nov;121(11):2173-80. doi: 10.1016/j.ophtha.2014.05.008. Epub 2014 Jun 26.

24.

Age-related macular degeneration: genetics and biology coming together.

Fritsche LG, Fariss RN, Stambolian D, Abecasis GR, Curcio CA, Swaroop A.

Annu Rev Genomics Hum Genet. 2014;15:151-71. doi: 10.1146/annurev-genom-090413-025610. Epub 2014 Apr 16. Review.

25.

Genotype imputation in genome-wide association studies.

Porcu E, Sanna S, Fuchsberger C, Fritsche LG.

Curr Protoc Hum Genet. 2013 Jul;Chapter 1:Unit 1.25. doi: 10.1002/0471142905.hg0125s78. Review.

PMID:
23853078
26.

Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.

Roth H, Fritsche LG, Meier C, Pilz P, Eigenthaler M, Meyer-Marcotty P, Stellzig-Eisenhauer A, Proff P, Kanno CM, Weber BH.

Clin Oral Investig. 2014;18(2):377-84. doi: 10.1007/s00784-013-1014-3. Epub 2013 Jun 15.

PMID:
23771181
27.

Seven new loci associated with age-related macular degeneration.

Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, 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; AMD Gene Consortium.

Nat Genet. 2013 Apr;45(4):433-9, 439e1-2. doi: 10.1038/ng.2578. Epub 2013 Mar 3.

28.

Age-related macular degeneration and coronary heart disease: evaluation of genetic and environmental associations.

Keilhauer CN, Fritsche LG, Guthoff R, Haubitz I, Weber BH.

Eur J Med Genet. 2013 Feb;56(2):72-9. doi: 10.1016/j.ejmg.2012.10.005. Epub 2012 Oct 25.

PMID:
23103884
29.

Modelling the genetic risk in age-related macular degeneration.

Grassmann F, Fritsche LG, Keilhauer CN, Heid IM, Weber BH.

PLoS One. 2012;7(5):e37979. doi: 10.1371/journal.pone.0037979. Epub 2012 May 30.

30.

Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration.

Baas DC, Ho L, Tanck MW, Fritsche LG, Merriam JE, van het Slot R, Koeleman BP, Gorgels TG, van Duijn CM, Uitterlinden AG, de Jong PT, Hofman A, ten Brink JB, Vingerling JR, Klaver CC, Dean M, Weber BH, Allikmets R, Hageman GS, Bergen AA.

Mol Vis. 2012;18:657-74. Epub 2012 Mar 17.

31.

A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.

Fritsche LG, Fleckenstein M, Fiebig BS, Schmitz-Valckenberg S, Bindewald-Wittich A, Keilhauer CN, Renner AB, Mackensen F, Mößner A, Pauleikhoff D, Adrion C, Mansmann U, Scholl HP, Holz FG, Weber BH.

Invest Ophthalmol Vis Sci. 2012 Apr 30;53(4):2112-8. doi: 10.1167/iovs.11-8785.

PMID:
22427542
32.

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, Zareparsi S, Bergen AA, Klaver CC, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BH, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PT, Smeeth L, Fletcher A, Hingorani AD.

Int J Epidemiol. 2012 Feb;41(1):250-62. doi: 10.1093/ije/dyr204. Epub 2012 Jan 13.

33.

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.

McKay GJ, Patterson CC, Chakravarthy U, Dasari S, Klaver CC, Vingerling JR, Ho L, de Jong PT, Fletcher AE, Young IS, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Hingorani AD, Sofat R, Dean M, Sawitzke J, Seddon JM, Peter I, Webster AR, Moore AT, Yates JR, Cipriani V, Fritsche LG, Weber BH, Keilhauer CN, Lotery AJ, Ennis S, Klein ML, Francis PJ, Stambolian D, Orlin A, Gorin MB, Weeks DE, Kuo CL, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Wright AF, Hayward C, Baird PN, Guymer RH, Attia J, Thakkinstian A, Silvestri G.

Hum Mutat. 2011 Dec;32(12):1407-16. doi: 10.1002/humu.21577. Epub 2011 Sep 12.

34.

Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins.

Keilhauer CN, Fritsche LG, Weber BH.

Ophthalmic Genet. 2011 Nov;32(4):237-44. doi: 10.3109/13816810.2011.592177. Epub 2011 Jul 8.

PMID:
21740222
35.

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.

McKay GJ, Silvestri G, Chakravarthy U, Dasari S, Fritsche LG, Weber BH, Keilhauer CN, Klein ML, Francis PJ, Klaver CC, Vingerling JR, Ho L, De Jong PT, Dean M, Sawitzke J, Baird PN, Guymer RH, Stambolian D, Orlin A, Seddon JM, Peter I, Wright AF, Hayward C, Lotery AJ, Ennis S, Gorin MB, Weeks DE, Kuo CL, Hingorani AD, Sofat R, Cipriani V, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Yates JR, Webster AR, Moore AT, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Young IS, Fletcher AE, Patterson CC.

Am J Epidemiol. 2011 Jun 15;173(12):1357-64. doi: 10.1093/aje/kwr015. Epub 2011 Apr 15. Review.

36.

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.

Friedrich U, Myers CA, Fritsche LG, Milenkovich A, Wolf A, Corbo JC, Weber BH.

Hum Mol Genet. 2011 Apr 1;20(7):1387-99. doi: 10.1093/hmg/ddr020. Epub 2011 Jan 20.

37.

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).

Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, Oppermann M, Pandey MK, Köhl J, Zipfel PF, Weber BH, Skerka C.

Hum Mol Genet. 2010 Dec 1;19(23):4694-704. doi: 10.1093/hmg/ddq399. Epub 2010 Sep 15.

PMID:
20843825
38.

CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors.

Corbo JC, Lawrence KA, Karlstetter M, Myers CA, Abdelaziz M, Dirkes W, Weigelt K, Seifert M, Benes V, Fritsche LG, Weber BH, Langmann T.

Genome Res. 2010 Nov;20(11):1512-25. doi: 10.1101/gr.109405.110. Epub 2010 Aug 6.

39.

CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.

Scholl HP, Fleckenstein M, Fritsche LG, Schmitz-Valckenberg S, Göbel A, Adrion C, Herold C, Keilhauer CN, Mackensen F, Mössner A, Pauleikhoff D, Weinberger AW, Mansmann U, Holz FG, Becker T, Weber BH.

PLoS One. 2009 Oct 12;4(10):e7418. doi: 10.1371/journal.pone.0007418.

40.

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.

Fritsche LG, Freitag-Wolf S, Bettecken T, Meitinger T, Keilhauer CN, Krawczak M, Weber BH.

Hum Mutat. 2009 Jul;30(7):1048-53. doi: 10.1002/humu.20957.

PMID:
19384966
41.

Systemic complement activation in age-related macular degeneration.

Scholl HP, Charbel Issa P, Walier M, Janzer S, Pollok-Kopp B, Börncke F, Fritsche LG, Chong NV, Fimmers R, Wienker T, Holz FG, Weber BH, Oppermann M.

PLoS One. 2008 Jul 2;3(7):e2593. doi: 10.1371/journal.pone.0002593. Erratum in: PLoS ONE. 2008;3(7). doi: 10.1371/annotation/511a1029-bc43-4510-a4ca-c1db31810acc. PLoS ONE. 2008;3(7). doi: 10.1371/annotation/32b9bc31-ed6d-4d31-9ce0-480407017bad.

42.

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.

Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH.

Nat Genet. 2008 Jul;40(7):892-6. doi: 10.1038/ng.170. Epub 2008 May 30.

PMID:
18511946
43.

Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).

Fisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G, Weber BH.

Hum Mutat. 2007 Apr;28(4):406-13.

PMID:
17216616
44.

Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate.

Fisher SA, Rivera A, Fritsche LG, Babadjanova G, Petrov S, Weber BH.

Br J Ophthalmol. 2007 May;91(5):576-8. Epub 2006 Oct 18.

45.

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.

Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH.

Hum Mol Genet. 2005 Nov 1;14(21):3227-36. Epub 2005 Sep 20.

PMID:
16174643

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