Genome-wide association study and identification of systemic comorbidities in development of age-related macular degeneration in a hospital-based cohort of Han Chinese.
Coding and regulatory variants are associated with serum protein levels and disease.
Nature Communications
Emilsson, Valur V; Gudmundsdottir, Valborg V; Gudjonsson, Alexander A; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Karim, Mohd A MA; Ilkov, Marjan M; Staley, James R JR; Gudmundsson, Elias F EF; Launer, Lenore J LJ; Lindeman, Jan H JH; Morton, Nicholas M NM; Aspelund, Thor T; Lamb, John R JR; Jennings, Lori L LL; Gudnason, Vilmundur V
Coding and regulatory variants are associated with serum protein levels and disease.
Nature Communications
Emilsson, Valur V; Gudmundsdottir, Valborg V; Gudjonsson, Alexander A; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Karim, Mohd A MA; Ilkov, Marjan M; Staley, James R JR; Gudmundsson, Elias F EF; Launer, Lenore J LJ; Lindeman, Jan H JH; Morton, Nicholas M NM; Aspelund, Thor T; Lamb, John R JR; Jennings, Lori L LL; Gudnason, Vilmundur V
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.
American Journal Of Human Genetics
Cipriani, Valentina V; Tierney, Anna A; Griffiths, John R JR; Zuber, Verena V; Sergouniotis, Panagiotis I PI; Yates, John R W JRW; Moore, Anthony T AT; Bishop, Paul N PN; Clark, Simon J SJ; Unwin, Richard D RD
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
Human Mutation
Khan, Adnan H AH; Sutton, Janice J; Cree, Angela J AJ; Khandhadia, Samir S; De Salvo, Gabriella G; Tobin, John J; Prakash, Priya P; Arora, Rashi R; Amoaku, Winfried W; Charbel Issa, Peter P; MacLaren, Robert E RE; Bishop, Paul N PN; Peto, Tunde T; Mohamed, Quresh Q; Steel, David H DH; Sivaprasad, Sobha S; Bailey, Clare C; Menon, Geeta G; Kavanagh, David D; Lotery, Andrew J AJ
Proteomic and Metabolomic Correlates of Healthy Dietary Patterns: The Framingham Heart Study.
Nutrients
Walker, Maura E ME; Song, Rebecca J RJ; Xu, Xiang X; Gerszten, Robert E RE; Ngo, Debby D; Clish, Clary B CB; Corlin, Laura L; Ma, Jiantao J; Xanthakis, Vanessa V; Jacques, Paul F PF; Vasan, Ramachandran S RS
Association of Irregular Pigment Epithelial Detachment in Central Serous Chorioretinopathy with Genetic Variants Implicated in Age-related Macular Degeneration.
Scientific Reports
Cho, Soo Chang SC; Ryoo, Na-Kyung NK; Ahn, Jeeyun J; Woo, Se Joon SJ; Park, Kyu Hyung KH
Genetic and environmental factors strongly influence risk, severity and progression of age-related macular degeneration.
Signal Transduction And Targeted Therapy
Wang, Wenqiu W; Gawlik, Katarzyna K; Lopez, Joe J; Wen, Cindy C; Zhu, Jie J; Wu, Frances F; Shi, William W; Scheibler, Samuel S; Cai, Huimin H; Vairavan, Ram R; Shi, Alexander A; Haw, Weldon W; Ferreyra, Henry H; Zhang, Ming M; Chang, Sherman S; Zhang, Kang K
Associations between SNPs and immune-related circulating proteins in schizophrenia.
Scientific Reports
Chan, Man K MK; Cooper, Jason D JD; Heilmann-Heimbach, Stefanie S; Frank, Josef J; Witt, Stephanie H SH; Nöthen, Markus M MM; Steiner, Johann J; Rietschel, Marcella M; Bahn, Sabine S
Connecting genetic risk to disease end points through the human blood plasma proteome.
Nature Communications
Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J
Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.
Human Molecular Genetics
Yu, Yi Y; Wagner, Erin K EK; Souied, Eric H EH; Seitsonen, Sanna S; Immonen, Ilkka J IJ; Häppölä, Paavo P; Raychaudhuri, Soumya S; Daly, Mark J MJ; Seddon, Johanna M JM
Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus.
Investigative Ophthalmology & Visual Science
Sardell, Rebecca J RJ; Persad, Patrice J PJ; Pan, Samuel S SS; Whitehead, Patrice P; Adams, Larry D LD; Laux, Reneé A RA; Fortun, Jorge A JA; Brantley, Milam A MA; Kovach, Jaclyn L JL; Schwartz, Stephen G SG; Agarwal, Anita A; Haines, Jonathan L JL; Scott, William K WK; Pericak-Vance, Margaret A MA
Risk factors and biomarkers of age-related macular degeneration.
Progress In Retinal And Eye Research
Lambert, Nathan G NG; ElShelmani, Hanan H; Singh, Malkit K MK; Mansergh, Fiona C FC; Wride, Michael A MA; Padilla, Maximilian M; Keegan, David D; Hogg, Ruth E RE; Ambati, Balamurali K BK
Genetic Association Analysis of Drusen Progression.
Investigative Ophthalmology & Visual Science
Hoffman, Joshua D JD; van Grinsven, Mark J J P MJ; Li, Chun C; Brantley, Milam M; McGrath, Josephine J; Agarwal, Anita A; Scott, William K WK; Schwartz, Stephen G SG; Kovach, Jaclyn J; Pericak-Vance, Margaret M; Sanchez, Clara I CI; Haines, Jonathan L JL
Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.
Investigative Ophthalmology & Visual Science
Triebwasser, Michael P MP; Roberson, Elisha D O ED; Yu, Yi Y; Schramm, Elizabeth C EC; Wagner, Erin K EK; Raychaudhuri, Soumya S; Seddon, Johanna M JM; Atkinson, John P JP
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
Nature Genetics
Kiryluk, Krzysztof K; Li, Yifu Y; Scolari, Francesco F; Sanna-Cherchi, Simone S; Choi, Murim M; Verbitsky, Miguel M; Fasel, David D; Lata, Sneh S; Prakash, Sindhuri S; Shapiro, Samantha S; Fischman, Clara C; Snyder, Holly J HJ; Appel, Gerald G; Izzi, Claudia C; Viola, Battista Fabio BF; Dallera, Nadia N; Del Vecchio, Lucia L; Barlassina, Cristina C; Salvi, Erika E; Bertinetto, Francesca Eleonora FE; Amoroso, Antonio A; Savoldi, Silvana S; Rocchietti, Marcella M; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Salvadori, Maurizio M; Ravani, Pietro P; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Caridi, Gianluca G; Bodria, Monica M; Lugani, Francesca F; Allegri, Landino L; Delsante, Marco M; Maiorana, Mariarosa M; Magnano, Andrea A; Frasca, Giovanni G; Boer, Emanuela E; Boscutti, Giuliano G; Ponticelli, Claudio C; Mignani, Renzo R; Marcantoni, Carmelita C; Di Landro, Domenico D; Santoro, Domenico D; Pani, Antonello A; Polci, Rosaria R; Feriozzi, Sandro S; Chicca, Silvana S; Galliani, Marco M; Gigante, Maddalena M; Gesualdo, Loreto L; Zamboli, Pasquale P; Battaglia, Giovanni Giorgio GG; Garozzo, Maurizio M; Maixnerová, Dita D; Tesar, Vladimir V; Eitner, Frank F; Rauen, Thomas T; Floege, Jürgen J; Kovacs, Tibor T; Nagy, Judit J; Mucha, Krzysztof K; Pączek, Leszek L; Zaniew, Marcin M; Mizerska-Wasiak, Małgorzata M; Roszkowska-Blaim, Maria M; Pawlaczyk, Krzysztof K; Gale, Daniel D; Barratt, Jonathan J; Thibaudin, Lise L; Berthoux, Francois F; Canaud, Guillaume G; Boland, Anne A; Metzger, Marie M; Panzer, Ulf U; Suzuki, Hitoshi H; Goto, Shin S; Narita, Ichiei I; Caliskan, Yasar Y; Xie, Jingyuan J; Hou, Ping P; Chen, Nan N; Zhang, Hong H; Wyatt, Robert J RJ; Novak, Jan J; Julian, Bruce A BA; Feehally, John J; Stengel, Benedicte B; Cusi, Daniele D; Lifton, Richard P RP; Gharavi, Ali G AG
Cone structure in subjects with known genetic relative risk for AMD.
Optometry And Vision Science : Official Publication Of The American Academy Of Optometry
Land, Megan E ME; Cooper, Robert F RF; Young, Jonathon J; Berg, Elizabeth E; Kitchner, Terrie T; Xiang, Qun Q; Szabo, Aniko A; Ivacic, Lynn C LC; Stepien, Kimberly E KE; Page, C David CD; Carroll, Joseph J; Connor, Thomas T; Brilliant, Murray M
No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38.
Ophthalmology
Chew, Emily Y EY; Klein, Michael L ML; Clemons, Traci E TE; Agrón, Elvira E; Ratnapriya, Rinki R; Edwards, Albert O AO; Fritsche, Lars G LG; Swaroop, Anand A; Abecasis, Gonçalo R GR; ,
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.
Human Molecular Genetics
Yu, Yi Y; Triebwasser, Michael P MP; Wong, Edwin K S EK; Schramm, Elizabeth C EC; Thomas, Brett B; Reynolds, Robyn R; Mardis, Elaine R ER; Atkinson, John P JP; Daly, Mark M; Raychaudhuri, Soumya S; Kavanagh, David D; Seddon, Johanna M JM
Mechanism of inflammation in age-related macular degeneration: an up-to-date on genetic landmarks.
Mediators Of Inflammation
Parmeggiani, Francesco F; Sorrentino, Francesco S FS; Romano, Mario R MR; Costagliola, Ciro C; Semeraro, Francesco F; Incorvaia, Carlo C; D'Angelo, Sergio S; Perri, Paolo P; De Nadai, Katia K; Bonomo Roversi, Elia E; Franceschelli, Paola P; Sebastiani, Adolfo A; Rubini, Michele M
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Seven new loci associated with age-related macular degeneration.
Nature Genetics
Fritsche, Lars G LG; Chen, Wei W; Schu, Matthew M; Yaspan, Brian L BL; Yu, Yi Y; Thorleifsson, Gudmar G; Zack, Donald J DJ; Arakawa, Satoshi S; Cipriani, Valentina V; Ripke, Stephan S; Igo, Robert P RP; Buitendijk, Gabriëlle H S GH; Sim, Xueling X; Weeks, Daniel E DE; Guymer, Robyn H RH; Merriam, Joanna E JE; Francis, Peter J PJ; Hannum, Gregory G; Agarwal, Anita A; Armbrecht, Ana Maria AM; Audo, Isabelle I; Aung, Tin T; Barile, Gaetano R GR; Benchaboune, Mustapha M; Bird, Alan C AC; Bishop, Paul N PN; Branham, Kari E KE; Brooks, Matthew M; Brucker, Alexander J AJ; Cade, William H WH; Cain, Melinda S MS; Campochiaro, Peter A PA; Chan, Chi-Chao CC; Cheng, Ching-Yu CY; Chew, Emily Y EY; Chin, Kimberly A KA; Chowers, Itay I; Clayton, David G DG; Cojocaru, Radu R; Conley, Yvette P YP; Cornes, Belinda K BK; Daly, Mark J MJ; Dhillon, Baljean B; Edwards, Albert O AO; Evangelou, Evangelos E; Fagerness, Jesen J; Ferreyra, Henry A HA; Friedman, James S JS; Geirsdottir, Asbjorg A; George, Ronnie J RJ; Gieger, Christian C; Gupta, Neel N; Hagstrom, Stephanie A SA; Harding, Simon P SP; Haritoglou, Christos C; Heckenlively, John R JR; Holz, Frank G FG; Hughes, Guy G; Ioannidis, John P A JP; Ishibashi, Tatsuro T; Joseph, Peronne P; Jun, Gyungah G; Kamatani, Yoichiro Y; Katsanis, Nicholas N; N Keilhauer, Claudia C; Khan, Jane C JC; Kim, Ivana K IK; Kiyohara, Yutaka Y; Klein, Barbara E K BE; Klein, Ronald R; Kovach, Jaclyn L JL; Kozak, Igor I; Lee, Clara J CJ; Lee, Kristine E KE; Lichtner, Peter P; Lotery, Andrew J AJ; Meitinger, Thomas T; Mitchell, Paul P; Mohand-Saïd, Saddek S; Moore, Anthony T AT; Morgan, Denise J DJ; Morrison, Margaux A MA; Myers, Chelsea E CE; Naj, Adam C AC; Nakamura, Yusuke Y; Okada, Yukinori Y; Orlin, Anton A; Ortube, M Carolina MC; Othman, Mohammad I MI; Pappas, Chris C; Park, Kyu Hyung KH; Pauer, Gayle J T GJ; Peachey, Neal S NS; Poch, Olivier O; Priya, Rinki Ratna RR; Reynolds, Robyn R; Richardson, Andrea J AJ; Ripp, Raymond R; Rudolph, Guenther G; Ryu, Euijung E; Sahel, José-Alain JA; Schaumberg, Debra A DA; Scholl, Hendrik P N HP; Schwartz, Stephen G SG; Scott, William K WK; Shahid, Humma H; Sigurdsson, Haraldur H; Silvestri, Giuliana G; Sivakumaran, Theru A TA; Smith, R Theodore RT; Sobrin, Lucia L; Souied, Eric H EH; Stambolian, Dwight E DE; Stefansson, Hreinn H; Sturgill-Short, Gwen M GM; Takahashi, Atsushi A; Tosakulwong, Nirubol N; Truitt, Barbara J BJ; Tsironi, Evangelia E EE; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Vijaya, Lingam L; Vingerling, Johannes R JR; Vithana, Eranga N EN; Webster, Andrew R AR; Wichmann, H-Erich HE; Winkler, Thomas W TW; Wong, Tien Y TY; Wright, Alan F AF; Zelenika, Diana D; Zhang, Ming M; Zhao, Ling L; Zhang, Kang K; Klein, Michael L ML; Hageman, Gregory S GS; Lathrop, G Mark GM; Stefansson, Kari K; Allikmets, Rando R; Baird, Paul N PN; Gorin, Michael B MB; Wang, Jie Jin JJ; Klaver, Caroline C W CC; Seddon, Johanna M JM; Pericak-Vance, Margaret A MA; Iyengar, Sudha K SK; Yates, John R W JR; Swaroop, Anand A; Weber, Bernhard H F BH; Kubo, Michiaki M; Deangelis, Margaret M MM; Léveillard, Thierry T; Thorsteinsdottir, Unnur U; Haines, Jonathan L JL; Farrer, Lindsay A LA; Heid, Iris M IM; Abecasis, Gonçalo R GR; ,
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
Plos One
Holliday, Elizabeth G EG; Smith, Albert V AV; Cornes, Belinda K BK; Buitendijk, Gabriëlle H S GH; Jensen, Richard A RA; Sim, Xueling X; Aspelund, Thor T; Aung, Tin T; Baird, Paul N PN; Boerwinkle, Eric E; Cheng, Ching Yu CY; van Duijn, Cornelia M CM; Eiriksdottir, Gudny G; Gudnason, Vilmundur V; Harris, Tamara T; Hewitt, Alex W AW; Inouye, Michael M; Jonasson, Fridbert F; Klein, Barbara E K BE; Launer, Lenore L; Li, Xiaohui X; Liew, Gerald G; Lumley, Thomas T; McElduff, Patrick P; McKnight, Barbara B; Mitchell, Paul P; Psaty, Bruce M BM; Rochtchina, Elena E; Rotter, Jerome I JI; Scott, Rodney J RJ; Tay, Wanting W; Taylor, Kent K; Teo, Yik Ying YY; Uitterlinden, André G AG; Viswanathan, Ananth A; Xie, Sophia S; , ; Vingerling, Johannes R JR; Klaver, Caroline C W CC; Tai, E Shyong ES; Siscovick, David D; Klein, Ronald R; Cotch, Mary Frances MF; Wong, Tien Y TY; Attia, John J; Wang, Jie Jin JJ
Genetic factors for choroidal neovascularization associated with high myopia.
Investigative Ophthalmology & Visual Science
Leveziel, Nicolas N; Yu, Yi Y; Reynolds, Robyn R; Tai, Albert A; Meng, Weihua W; Caillaux, Violaine V; Calvas, Patrick P; Rosner, Bernard B; Malecaze, François F; Souied, Eric H EH; Seddon, Johanna M JM
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.
Plos One
Sivakumaran, Theru A TA; Igo, Robert P RP; Kidd, Jeffrey M JM; Itsara, Andy A; Kopplin, Laura J LJ; Chen, Wei W; Hagstrom, Stephanie A SA; Peachey, Neal S NS; Francis, Peter J PJ; Klein, Michael L ML; Chew, Emily Y EY; Ramprasad, Vedam L VL; Tay, Wan-Ting WT; Mitchell, Paul P; Seielstad, Mark M; Stambolian, Dwight E DE; Edwards, Albert O AO; Lee, Kristine E KE; Leontiev, Dmitry V DV; Jun, Gyungah G; Wang, Yang Y; Tian, Liping L; Qiu, Feiyou F; Henning, Alice K AK; LaFramboise, Thomas T; Sen, Parveen P; Aarthi, Manoharan M; George, Ronnie R; Raman, Rajiv R; Das, Manmath Kumar MK; Vijaya, Lingam L; Kumaramanickavel, Govindasamy G; Wong, Tien Y TY; Swaroop, Anand A; Abecasis, Goncalo R GR; Klein, Ronald R; Klein, Barbara E K BE; Nickerson, Deborah A DA; Eichler, Evan E EE; Iyengar, Sudha K SK
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Nature Genetics
Raychaudhuri, Soumya S; Iartchouk, Oleg O; Chin, Kimberly K; Tan, Perciliz L PL; Tai, Albert K AK; Ripke, Stephan S; Gowrisankar, Sivakumar S; Vemuri, Soumya S; Montgomery, Kate K; Yu, Yi Y; Reynolds, Robyn R; Zack, Donald J DJ; Campochiaro, Betsy B; Campochiaro, Peter P; Katsanis, Nicholas N; Daly, Mark J MJ; Seddon, Johanna M JM
Copy number variation in the complement factor H-related genes and age-related macular degeneration.
Molecular Vision
Kubista, Katharina E KE; Tosakulwong, Nirubol N; Wu, Yanhong Y; Ryu, Euijung E; Roeder, Jaime L JL; Hecker, Laura A LA; Baratz, Keith H KH; Brown, William L WL; Edwards, Albert O AO
Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent.
Nature Genetics
Raychaudhuri, Soumya S; Ripke, Stephan S; Li, Mingyao M; Neale, Benjamin M BM; Fagerness, Jesen J; Reynolds, Robyn R; Sobrin, Lucia L; Swaroop, Anand A; Abecasis, Gonçalo G; Seddon, Johanna M JM; Daly, Mark J MJ
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
Proceedings Of The National Academy Of Sciences Of The United States Of America
Neale, Benjamin M BM; Fagerness, Jesen J; Reynolds, Robyn R; Sobrin, Lucia L; Parker, Margaret M; Raychaudhuri, Soumya S; Tan, Perciliz L PL; Oh, Edwin C EC; Merriam, Joanna E JE; Souied, Eric E; Bernstein, Paul S PS; Li, Binxing B; Frederick, Jeanne M JM; Zhang, Kang K; Brantley, Milam A MA; Lee, Aaron Y AY; Zack, Donald J DJ; Campochiaro, Betsy B; Campochiaro, Peter P; Ripke, Stephan S; Smith, R Theodore RT; Barile, Gaetano R GR; Katsanis, Nicholas N; Allikmets, Rando R; Daly, Mark J MJ; Seddon, Johanna M JM
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Chen, Wei W; Stambolian, Dwight D; Edwards, Albert O AO; Branham, Kari E KE; Othman, Mohammad M; Jakobsdottir, Johanna J; Tosakulwong, Nirubol N; Pericak-Vance, Margaret A MA; Campochiaro, Peter A PA; Klein, Michael L ML; Tan, Perciliz L PL; Conley, Yvette P YP; Kanda, Atsuhiro A; Kopplin, Laura L; Li, Yanming Y; Augustaitis, Katherine J KJ; Karoukis, Athanasios J AJ; Scott, William K WK; Agarwal, Anita A; Kovach, Jaclyn L JL; Schwartz, Stephen G SG; Postel, Eric A EA; Brooks, Matthew M; Baratz, Keith H KH; Brown, William L WL; , ; Brucker, Alexander J AJ; Orlin, Anton A; Brown, Gary G; Ho, Allen A; Regillo, Carl C; Donoso, Larry L; Tian, Lifeng L; Kaderli, Brian B; Hadley, Dexter D; Hagstrom, Stephanie A SA; Peachey, Neal S NS; Klein, Ronald R; Klein, Barbara E K BE; Gotoh, Norimoto N; Yamashiro, Kenji K; Ferris Iii, Frederick F; Fagerness, Jesen A JA; Reynolds, Robyn R; Farrer, Lindsay A LA; Kim, Ivana K IK; Miller, Joan W JW; Cortón, Marta M; Carracedo, Angel A; Sanchez-Salorio, Manuel M; Pugh, Elizabeth W EW; Doheny, Kimberly F KF; Brion, Maria M; Deangelis, Margaret M MM; Weeks, Daniel E DE; Zack, Donald J DJ; Chew, Emily Y EY; Heckenlively, John R JR; Yoshimura, Nagahisa N; Iyengar, Sudha K SK; Francis, Peter J PJ; Katsanis, Nicholas N; Seddon, Johanna M JM; Haines, Jonathan L JL; Gorin, Michael B MB; Abecasis, Gonçalo R GR; Swaroop, Anand A