Publications:

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CD55 Variant Associated with Pegylated-interferon α Therapy Response in HBeAg-positive Chronic Hepatitis B Patients.

Journal Of Clinical And Translational Hepatology

Chen, Jiaxuan J; Lou, Shuang S; Chen, Haitao H; Zhou, Bin B; Sun, Jian J; Hou, Jinlin J; Jiang, De-Ke DK

Publication Date: 2023-04-28

Variant appearance in text: rs541862

PubMed Link: 36643051

Variant Present in the following documents:

• Main text
• JCTH-11-295.pdf

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Functional variant rs12614 in CFB confers a low risk of IgA nephropathy by attenuating complement alternative pathway activation in Han Chinese.

Frontiers In Immunology

Shi, Dian-Chun DC; Feng, Shao-Zhen SZ; Zhong, Zhong Z; Cai, Lu L; Wang, Meng M; Fu, Dong-Ying DY; Yu, Xue-Qing XQ; Li, Ming M

Publication Date: 2022

Variant appearance in text: rs541862

PubMed Link: 36311737

Variant Present in the following documents:

• Main text
• DataSheet_1.pdf
• fimmu-13-973169.pdf

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Molecular Genetic Mechanisms in Age-Related Macular Degeneration.

Genes

Shughoury, Aumer A; Sevgi, Duriye Damla DD; Ciulla, Thomas A TA

Publication Date: 2022-07-12

Variant appearance in text: rs541862

PubMed Link: 35886016

Variant Present in the following documents:

• Main text
• genes-13-01233.pdf

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A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.

Bmc Medical Genetics

Seo, Jung Yeon JY; Shin, Joong-Gon JG; Youn, Byeong Ju BJ; Namgoong, Suhg S; Cheong, Hyun Sub HS; Kim, Lyoung Hyo LH; Kim, Ji On JO; Shin, Hyoung Doo HD; Kim, Yoon Jun YJ

Publication Date: 2020-12-17

Variant appearance in text: rs541862

PubMed Link: 33334325

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1177.pdf

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The association of polypoidal choroidal vasculopathy clinical phenotypes with previously reported genetic markers.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie

Luo, Mingyue M; Zhao, Xinyu X; Yang, Jingyuan J; Chen, Youxin Y

Publication Date: 2020-06

Variant appearance in text: rs541862

PubMed Link: 32328755

Variant Present in the following documents:

• Main text
• 417_2020_Article_4702.pdf

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The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients.

Journal Of Current Ophthalmology

Roshanipour, Nasrin N; Bonyadi, Morteza M; Jabbarpour Bonyadi, Mohammad Hossein MH; Soheilian, Masoud M

Publication Date: 2019-09

Variant appearance in text: rs541862

PubMed Link: 31528764

Variant Present in the following documents:

• Main text
• main.pdf

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Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review.

Journal Of Clinical Medicine

Lee, Kwang Seob KS; Kronbichler, Andreas A; Pereira Vasconcelos, Daniel Fernando DF; Pereira da Silva, Felipe Rodolfo FR; Ko, Younhee Y; Oh, Yeon Su YS; Eisenhut, Michael M; Merkel, Peter A PA; Jayne, David D; Amos, Christopher I CI; Siminovitch, Katherine A KA; Rahmattulla, Chinar C; Lee, Keum Hwa KH; Shin, Jae Il JI

Publication Date: 2019-02-21

Variant appearance in text: rs541862

PubMed Link: 30795559

Variant Present in the following documents:

• jcm-08-00266-s001.pdf

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Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator.

Nature Communications

Carayol, Jérôme J; Chabert, Christian C; Di Cara, Alessandro A; Armenise, Claudia C; Lefebvre, Gregory G; Langin, Dominique D; Viguerie, Nathalie N; Metairon, Sylviane S; Saris, Wim H M WHM; Astrup, Arne A; Descombes, Patrick P; Valsesia, Armand A; Hager, Jörg J

Publication Date: 2017-12-12

Variant appearance in text: rs541862

PubMed Link: 29234017

Variant Present in the following documents:

• Main text

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Advances in Age-related Macular Degeneration Understanding and Therapy.

Us Ophthalmic Review

Miller, Joan W JW; Bagheri, Saghar S; Vavvas, Demetrios G DG

Publication Date: 2017

Variant appearance in text: rs541862

PubMed Link: 29142592

Variant Present in the following documents:

• Main text
• nihms918232.pdf

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Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis.

Arthritis & Rheumatology (Hoboken, N.J.)

Merkel, Peter A PA; Xie, Gang G; Monach, Paul A PA; Ji, Xuemei X; Ciavatta, Dominic J DJ; Byun, Jinyoung J; Pinder, Benjamin D BD; Zhao, Ai A; Zhang, Jinyi J; Tadesse, Yohannes Y; Qian, David D; Weirauch, Matthew M; Nair, Rajan R; Tsoi, Alex A; Pagnoux, Christian C; Carette, Simon S; Chung, Sharon S; Cuthbertson, David D; Davis, John C JC; Dellaripa, Paul F PF; Forbess, Lindsy L; Gewurz-Singer, Ora O; Hoffman, Gary S GS; Khalidi, Nader N; Koening, Curry C; Langford, Carol A CA; Mahr, Alfred D AD; McAlear, Carol C; Moreland, Larry L; Seo, E Philip EP; Specks, Ulrich U; Spiera, Robert F RF; Sreih, Antoine A; St Clair, E William EW; Stone, John H JH; Ytterberg, Steven R SR; Elder, James T JT; Qu, Jia J; Ochi, Toshiki T; Hirano, Naoto N; Edberg, Jeffrey C JC; Falk, Ronald J RJ; Amos, Christopher I CI; Siminovitch, Katherine A KA; ,

Publication Date: 2017-05

Variant appearance in text: rs541862

PubMed Link: 28029757

Variant Present in the following documents:

• ART-69-1054-s002.pdf

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A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.

European Journal Of Human Genetics : Ejhg

Gupta, Aditi A; Juyal, Garima G; Sood, Ajit A; Midha, Vandana V; Yamazaki, Keiko K; Vich Vila, Arnau A; Esaki, Motohiro M; Matsui, Toshiyuki T; Takahashi, Atsushi A; Kubo, Michiaki M; Weersma, Rinse K RK; Thelma, B K BK

Publication Date: 2016-01

Variant appearance in text: rs541862

PubMed Link: 27759029

Variant Present in the following documents:

• Main text

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AMD-like retinopathy associated with intravenous iron.

Experimental Eye Research

Song, Delu D; Kanu, Levi N LN; Li, Yafeng Y; Kelly, Kristen L KL; Bhuyan, Rupak K RK; Aleman, Tomas T; Morgan, Jessica I W JI; Dunaief, Joshua L JL

Publication Date: 2016-10

Variant appearance in text: rs541862

PubMed Link: 27565570

Variant Present in the following documents:

• Main text

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Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy.

Scientific Reports

Ye, Zimeng Z; Shuai, Ping P; Zhai, Yaru Y; Li, Fang F; Jiang, Lingxi L; Lu, Fang F; Wen, Feng F; Huang, Lulin L; Zhang, Dingding D; Liu, Xiaoqi X; Lin, Ying Y; Luo, Huaichao H; Zhang, Houbin H; Zhu, Xianjun X; Wu, Zhengzheng Z; Yang, Zhenglin Z; Gong, Bo B; Shi, Yi Y

Publication Date: 2016-02-10

Variant appearance in text: rs541862

PubMed Link: 26861912

Variant Present in the following documents:

• Main text
• srep20914.pdf

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Predictors of Response to Intravitreal Anti-Vascular Endothelial Growth Factor Treatment of Age-Related Macular Degeneration.

American Journal Of Ophthalmology

Shah, Anjali R AR; Williams, Steven S; Baumal, Caroline R CR; Rosner, Bernard B; Duker, Jay S JS; Seddon, Johanna M JM

Publication Date: 2016-03

Variant appearance in text: rs541862

PubMed Link: 26705092

Variant Present in the following documents:

• Main text

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A Validated Phenotyping Algorithm for Genetic Association Studies in Age-related Macular Degeneration.

Scientific Reports

Simonett, Joseph M JM; Sohrab, Mahsa A MA; Pacheco, Jennifer J; Armstrong, Loren L LL; Rzhetskaya, Margarita M; Smith, Maureen M; Geoffrey Hayes, M M; Fawzi, Amani A AA

Publication Date: 2015-08-10

Variant appearance in text: rs541862

PubMed Link: 26255974

Variant Present in the following documents:

• Main text
• srep12875.pdf

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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: rs541862

PubMed Link: 25132797

Variant Present in the following documents:

• Main text

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Associations of complement factor B and complement component 2 genotypes with subtypes of polypoidal choroidal vasculopathy.

Bmc Ophthalmology

Tanaka, Koji K; Nakayama, Tomohiro T; Mori, Ryusaburo R; Sato, Naoyuki N; Kawamura, Akiyuki A; Yuzawa, Mitsuko M

Publication Date: 2014-06-25

Variant appearance in text: rs541862

PubMed Link: 24965207

Variant Present in the following documents:

• Main text
• 1471-2415-14-83.pdf

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs541862

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

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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: rs541862

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-1.pdf

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Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.

Annals Of Human Genetics

Naj, Adam C AC; Scott, William K WK; Courtenay, Monique D MD; Cade, William H WH; Schwartz, Stephen G SG; Kovach, Jaclyn L JL; Agarwal, Anita A; Wang, Gaofeng G; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA

Publication Date: 2013-05

Variant appearance in text: rs541862

PubMed Link: 23577725

Variant Present in the following documents:

• Main text

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Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

Human Molecular Genetics

Cipriani, Valentina V; Leung, Hin-Tak HT; Plagnol, Vincent V; Bunce, Catey C; Khan, Jane C JC; Shahid, Humma H; Moore, Anthony T AT; Harding, Simon P SP; Bishop, Paul N PN; Hayward, Caroline C; Campbell, Susan S; Armbrecht, Ana Maria AM; Dhillon, Baljean B; Deary, Ian J IJ; Campbell, Harry H; Dunlop, Malcolm M; Dominiczak, Anna F AF; Mann, Samantha S SS; Jenkins, Sharon A SA; Webster, Andrew R AR; Bird, Alan C AC; Lathrop, Mark M; Zelenika, Diana D; Souied, Eric H EH; Sahel, José-Alain JA; Léveillard, Thierry T; , ; Cree, Angela J AJ; Gibson, Jane J; Ennis, Sarah S; Lotery, Andrew J AJ; Wright, Alan F AF; Clayton, David G DG; Yates, John R W JR

Publication Date: 2012-09-15

Variant appearance in text: rs541862

PubMed Link: 22694956

Variant Present in the following documents:

• Main text

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Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.

Molecular Vision

Ryu, Euijung E; Fridley, Brooke L BL; Tosakulwong, Nirubol N; Bailey, Kent R KR; Edwards, Albert O AO

Publication Date: 2010-12-17

Variant appearance in text: rs541862

PubMed Link: 21197116

Variant Present in the following documents:

• Main text
• mv-v16-2811.pdf

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C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

Plos One

Jakobsdottir, Johanna J; Conley, Yvette P YP; Weeks, Daniel E DE; Ferrell, Robert E RE; Gorin, Michael B MB

Publication Date: 2008-05-21

Variant appearance in text: rs541862

PubMed Link: 18493315

Variant Present in the following documents:

• pone.0002199.s005.pdf

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