Publications:

---

Biomarkers as Predictive Factors of Anti-VEGF Response.

Biomedicines

Bobadilla, Miriam M; Pariente, Ana A; Oca, Ana I AI; Peláez, Rafael R; Pérez-Sala, Álvaro Á; Larráyoz, Ignacio M IM

Publication Date: 2022-04-26

Variant appearance in text: rs4698775

PubMed Link: 35625740

Variant Present in the following documents:

• Main text
• biomedicines-10-01003.pdf

View BVdb publication page

---

Discovery of Novel Genetic Risk Loci for Acute Central Serous Chorioretinopathy and Genetic Pleiotropic Effect With Age-Related Macular Degeneration.

Frontiers In Cell And Developmental Biology

Feng, Lei L; Chen, Si S; Dai, Huatuo H; Dorajoo, Rajkumar R; Liu, Jianjun J; Kong, Jinfeng J; Yin, Xianyong X; Ren, Yunqing Y

Publication Date: 2021

Variant appearance in text: rs4698775

PubMed Link: 34490249

Variant Present in the following documents:

• Main text
• fcell-09-696885.pdf

View BVdb publication page

---

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

Publication Date: 2021-09

Variant appearance in text: rs4698775

PubMed Link: 34153144

Variant Present in the following documents:

• Main text
• HUMU-42-1139.pdf
• HUMU-42-1139-s001.pdf

View BVdb publication page

---

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

Publication Date: 2020-01-27

Variant appearance in text: rs4698775

PubMed Link: 31988359

Variant Present in the following documents:

• Main text
• 41598_2020_Article_57747.pdf

View BVdb publication page

---

Choroidal Neovascularization: Mechanisms of Endothelial Dysfunction.

Frontiers In Pharmacology

Yeo, Natalie Jia Ying NJY; Chan, Ebenezer Jia Jun EJJ; Cheung, Christine C

Publication Date: 2019

Variant appearance in text: rs4698775

PubMed Link: 31849644

Variant Present in the following documents:

• Main text
• fphar-10-01363.pdf

View BVdb publication page

---

Do age-related macular degeneration genes show association with keratoconus?

Eye And Vision (London, England)

Cao, Ke K; Sahebjada, Srujana S; Richardson, Andrea J AJ; Baird, Paul N PN

Publication Date: 2019

Variant appearance in text: rs4698775

PubMed Link: 31819893

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Systemic expression of Alu RNA in patients with geographic atrophy secondary to age-related macular degeneration.

Plos One

Yoshida, Hiroyuki H; Matsushita, Tokiyoshi T; Kimura, Erika E; Fujita, Yukie Y; Keany, Robert R; Ikeda, Toshihiro T; Toshimori, Masanao M; Imanaka, Takahiro T; Nakamura, Masatsugu M

Publication Date: 2019

Variant appearance in text: rs4698775

PubMed Link: 31425537

Variant Present in the following documents:

• Main text
• pone.0220887.pdf

View BVdb publication page

---

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group.

Bmc Medical Genetics

Liu, Shengchun S; Wu, Mingxing M; Zhang, Bianwen B; Xiong, Xiaojing X; Wang, Hao H; Zhou, Xiyuan X

Publication Date: 2019-01-29

Variant appearance in text: rs4698775

PubMed Link: 30696427

Variant Present in the following documents:

• Main text
• 12881_2019_Article_756.pdf

View BVdb publication page

---

Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants.

Oncotarget

Cascella, Raffaella R; Strafella, Claudia C; Longo, Giuliana G; Ragazzo, Michele M; Manzo, Laura L; De Felici, Cecilia C; Errichiello, Valeria V; Caputo, Valerio V; Viola, Francesco F; Eandi, Chiara Maria CM; Staurenghi, Giovanni G; Cusumano, Andrea A; Mauriello, Silvestro S; Marsella, Luigi Tonino LT; Ciccacci, Cinzia C; Borgiani, Paola P; Sangiuolo, Federica F; Novelli, Giuseppe G; Ricci, Federico F; Giardina, Emiliano E

Publication Date: 2018-01-30

Variant appearance in text: rs4698775

PubMed Link: 29487693

Variant Present in the following documents:

• Main text
• oncotarget-09-7812.pdf

View BVdb publication page

---

A prospective multicenter study on genome wide associations to ranibizumab treatment outcome for age-related macular degeneration.

Scientific Reports

Yamashiro, Kenji K; Mori, Keisuke K; Honda, Shigeru S; Kano, Mariko M; Yanagi, Yasuo Y; Obana, Akira A; Sakurada, Yoichi Y; Sato, Taku T; Nagai, Yoshimi Y; Hikichi, Taiichi T; Kataoka, Yasushi Y; Hara, Chikako C; Koyama, Yasurou Y; Koizumi, Hideki H; Yoshikawa, Munemitsu M; Miyake, Masahiro M; Nakata, Isao I; Tsuchihashi, Takashi T; Horie-Inoue, Kuniko K; Matsumiya, Wataru W; Ogasawara, Masashi M; Obata, Ryo R; Yoneyama, Seigo S; Matsumoto, Hidetaka H; Ohnaka, Masayuki M; Kitamei, Hirokuni H; Sayanagi, Kaori K; Ooto, Sotaro S; Tamura, Hiroshi H; Oishi, Akio A; Kabasawa, Sho S; Ueyama, Kazuhiro K; Miki, Akiko A; Kondo, Naoshi N; Bessho, Hiroaki H; Saito, Masaaki M; Takahashi, Hidenori H; Tan, Xue X; Azuma, Keiko K; Kikushima, Wataru W; Mukai, Ryo R; Ohira, Akihiro A; Gomi, Fumi F; Miyata, Kazunori K; Takahashi, Kanji K; Kishi, Shoji S; Iijima, Hiroyuki H; Sekiryu, Tetsuju T; Iida, Tomohiro T; Awata, Takuya T; Inoue, Satoshi S; Yamada, Ryo R; Matsuda, Fumihiko F; Tsujikawa, Akitaka A; Negi, Akira A; Yoneya, Shin S; Iwata, Takeshi T; Yoshimura, Nagahisa N

Publication Date: 2017-08-23

Variant appearance in text: rs4698775

PubMed Link: 28835685

Variant Present in the following documents:

• Main text
• 41598_2017_Article_9632.pdf

View BVdb publication page

---

Oxidative stress, innate immunity, and age-related macular degeneration.

Aims Molecular Science

Shaw, Peter X PX; Stiles, Travis T; Douglas, Christopher C; Ho, Daisy D; Fan, Wei W; Du, Hongjun H; Xiao, Xu X

Publication Date: 2016

Variant appearance in text: rs4698775

PubMed Link: 27239555

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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

Publication Date: 2016-04-01

Variant appearance in text: rs4698775

PubMed Link: 27116550

Variant Present in the following documents:

• i1552-5783-57-4-2225.pdf

View BVdb publication page

---

Pachychoroid neovasculopathy and age-related macular degeneration.

Scientific Reports

Miyake, Masahiro M; Ooto, Sotaro S; Yamashiro, Kenji K; Takahashi, Ayako A; Yoshikawa, Munemitsu M; Akagi-Kurashige, Yumiko Y; Ueda-Arakawa, Naoko N; Oishi, Akio A; Nakanishi, Hideo H; Tamura, Hiroshi H; Tsujikawa, Akitaka A; Yoshimura, Nagahisa N

Publication Date: 2015-11-06

Variant appearance in text: rs4698775

PubMed Link: 26542071

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polypoidal Choroidal Vasculopathy in Asians.

Journal Of Clinical Medicine

Wong, Chee Wai CW; Wong, Tien Y TY; Cheung, Chui Ming Gemmy CM

Publication Date: 2015-04-24

Variant appearance in text: rs4698775

PubMed Link: 26239448

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Transcriptome of the human retina, retinal pigmented epithelium and choroid.

Genomics

Tian, Lifeng L; Kazmierkiewicz, Krista L KL; Bowman, Anita S AS; Li, Mingyao M; Curcio, Christine A CA; Stambolian, Dwight E DE

Publication Date: 2015-05

Variant appearance in text: rs4698775

PubMed Link: 25645700

Variant Present in the following documents:

• Main text

View BVdb publication page

---

New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Nature Communications

Cheng, Ching-Yu CY; Yamashiro, Kenji K; Chen, Li Jia LJ; Ahn, Jeeyun J; Huang, Lulin L; Huang, Lvzhen L; Cheung, Chui Ming G CM; Miyake, Masahiro M; Cackett, Peter D PD; Yeo, Ian Y IY; Laude, Augustinus A; Mathur, Ranjana R; Pang, Junxiong J; Sim, Kar Seng KS; Koh, Adrian H AH; Chen, Peng P; Lee, Shu Yen SY; Wong, Doric D; Chan, Choi Mun CM; Loh, Boon Kwang BK; Sun, Yaoyao Y; Davila, Sonia S; Nakata, Isao I; Nakanishi, Hideo H; Akagi-Kurashige, Yumiko Y; Gotoh, Norimoto N; Tsujikawa, Akitaka A; Matsuda, Fumihiko F; Mori, Keisuke K; Yoneya, Shin S; Sakurada, Yoichi Y; Iijima, Hiroyuki H; Iida, Tomohiro T; Honda, Shigeru S; Lai, Timothy Yuk Yau TY; Tam, Pancy Oi Sin PO; Chen, Haoyu H; Tang, Shibo S; Ding, Xiaoyan X; Wen, Feng F; Lu, Fang F; Zhang, Xiongze X; Shi, Yi Y; Zhao, Peiquan P; Zhao, Bowen B; Sang, Jinghong J; Gong, Bo B; Dorajoo, Rajkumar R; Yuan, Jian-Min JM; Koh, Woon-Puay WP; van Dam, Rob M RM; Friedlander, Yechiel Y; Lin, Ying Y; Hibberd, Martin L ML; Foo, Jia Nee JN; Wang, Ningli N; Wong, Chang Hua CH; Tan, Gavin S GS; Park, Sang Jun SJ; Bhargava, Mayuri M; Gopal, Lingam L; Naing, Thet T; Liao, Jiemin J; Ong, Peng Guan PG; Mitchell, Paul P; Zhou, Peng P; Xie, Xuefeng X; Liang, Jinlong J; Mei, Junpu J; Jin, Xin X; Saw, Seang-Mei SM; Ozaki, Mineo M; Mizoguchi, Takanori T; Kurimoto, Yasuo Y; Woo, Se Joon SJ; Chung, Hum H; Yu, Hyeong-Gon HG; Shin, Joo Young JY; Park, Dong Ho DH; Kim, In Taek IT; Chang, Woohyok W; Sagong, Min M; Lee, Sang-Joon SJ; Kim, Hyun Woong HW; Lee, Ji Eun JE; Li, Yi Y; Liu, Jianjun J; Teo, Yik Ying YY; Heng, Chew Kiat CK; Lim, Tock Han TH; Yang, Suk-Kyun SK; Song, Kyuyoung K; Vithana, Eranga N EN; Aung, Tin T; Bei, Jin Xin JX; Zeng, Yi Xin YX; Tai, E Shyong ES; Li, Xiao Xin XX; Yang, Zhenglin Z; Park, Kyu-Hyung KH; Pang, Chi Pui CP; Yoshimura, Nagahisa N; Wong, Tien Yin TY; Khor, Chiea Chuen CC

Publication Date: 2015-01-28

Variant appearance in text: rs4698775

PubMed Link: 25629512

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease.

Journal Of Clinical Medicine

Gorin, Michael B MB; Weeks, Daniel E DE; Baron, Robert V RV; Conley, Yvette P YP; Ortube, Maria C MC; Nusinowitz, Steven S

Publication Date: 2014-11-28

Variant appearance in text: rs4698775

PubMed Link: 25568804

Variant Present in the following documents:

• Main text
• jcm-03-01335.pdf

View BVdb publication page

---

Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.

Progress In Retinal And Eye Research

Whitmore, S Scott SS; Sohn, Elliott H EH; Chirco, Kathleen R KR; Drack, Arlene V AV; Stone, Edwin M EM; Tucker, Budd A BA; Mullins, Robert F RF

Publication Date: 2015-03

Variant appearance in text: rs4698775

PubMed Link: 25486088

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Age-related macular degeneration: insights into inflammatory genes.

Journal Of Ophthalmology

Cascella, Raffaella R; Ragazzo, Michele M; Strafella, Claudia C; Missiroli, Filippo F; Borgiani, Paola P; Angelucci, Francesco F; Marsella, Luigi Tonino LT; Cusumano, Andrea A; Novelli, Giuseppe G; Ricci, Federico F; Giardina, Emiliano E

Publication Date: 2014

Variant appearance in text: rs4698775

PubMed Link: 25478207

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Complement system in pathogenesis of AMD: dual player in degeneration and protection of retinal tissue.

Journal Of Immunology Research

Kawa, Milosz P MP; Machalinska, Anna A; Roginska, Dorota D; Machalinski, Boguslaw B

Publication Date: 2014

Variant appearance in text: rs4698775

PubMed Link: 25276841

Variant Present in the following documents:

• Main text
• JIR2014-483960.pdf

View BVdb publication page

---

Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration.

Cold Spring Harbor Perspectives In Medicine

Cooke Bailey, Jessica N JN; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL

Publication Date: 2014-09-11

Variant appearance in text: rs4698775

PubMed Link: 25213188

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Using current data to define new approach in age related macular degeneration: need to accelerate translational research.

Current Genomics

Anand, Akshay A; Sharma, Kaushal K; Chen, Wei W; Sharma, Neel Kamal NK

Publication Date: 2014-08

Variant appearance in text: rs4698775

PubMed Link: 25132797

Variant Present in the following documents:

• Main text
• CG-15-266.pdf

View BVdb publication page

---

Genetic variants in the complement system predisposing to age-related macular degeneration: a review.

Molecular Immunology

Schramm, Elizabeth C EC; Clark, Simon J SJ; Triebwasser, Michael P MP; Raychaudhuri, Soumya S; Seddon, Johanna J; Atkinson, John P JP

Publication Date: 2014-10

Variant appearance in text: rs4698775

PubMed Link: 25034031

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Common variant rs10033900 near the complement factor I gene is associated with age-related macular degeneration risk in Han Chinese population.

European Journal Of Human Genetics : Ejhg

Qian, Dingguo D; Kan, Mengyuan M; Weng, Xiaoling X; Huang, Yugeng Y; Zhou, Changbo C; Yu, Genlong G; Wang, Ting T; Zhou, Daizhan D; Zhang, Zhou Z; Zhang, Di D; Tang, Wei W; Liu, Yun Y

Publication Date: 2014-12

Variant appearance in text: rs4698775

PubMed Link: 24642830

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The role of the complement system in age-related macular degeneration.

Deutsches Arzteblatt International

Weber, Bernhard H F BH; Charbel Issa, Peter P; Pauly, Diana D; Herrmann, Philipp P; Grassmann, Felix F; Holz, Frank G FG

Publication Date: 2014-02-21

Variant appearance in text: rs4698775

PubMed Link: 24622760

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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

Publication Date: 2013-11

Variant appearance in text: rs4698775

PubMed Link: 24036952

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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; ,

Publication Date: 2013-04

Variant appearance in text: rs4698775

PubMed Link: 23455636

Variant Present in the following documents:

• Main text
• NIHMS474886-supplement-1.pdf
• nihms474886.pdf

View BVdb publication page

---