CFH c.791-2362T>C

Variant ID: 1-196651832-T-C

NM_000186.3(CFH):c.791-2362T>C

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Genotyping of Clinical Parameters in Age-Related Macular Degeneration.

Clinical Ophthalmology (Auckland, N.Z.)
Battu, Priya P; Sharma, Kaushal K; Thangavel, Rajarathna R; Singh, Ramandeep R; Sharma, Suresh S; Srivastava, Vinod V; Anand, Akshay A
Publication Date: 2022

Variant appearance in text: rs3766404
PubMed Link: 35241908
Variant Present in the following documents:
  • Main text
  • opth-16-517.pdf
View BVdb publication page



The Genetic Background of Central Serous Chorioretinopathy: A Review on Central Serous Chorioretinopathy Genes.

Journal Of Genomics
Giannopoulos, Konstantinos K; Gazouli, Maria M; Chatzistefanou, Klio K; Bakouli, Anthi A; Moschos, Marilita M MM
Publication Date: 2021

Variant appearance in text: rs3766404
PubMed Link: 33456587
Variant Present in the following documents:
  • Main text
  • jgenv09p0010.pdf
View BVdb publication page



[Trans-ethnic analysis of susceptibility variants in IgA nephropathy].

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal Of Peking University. Health Sciences
Kang, Y Q YQ; Zhang, Y M YM; Hou, P P; Shi, S F SF; Liu, L J LJ; Zhou, X J XJ; Lv, J C JC; Zhang, H H
Publication Date: 2019-06-18

Variant appearance in text: rs3766404
PubMed Link: 31209417
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent.

Molecular Vision
Rohrer, Bärbel B; Frazer-Abel, Ashley A; Leonard, Anthony A; Ratnapriya, Rinki R; Ward, Tyson T; Pietraszkiewicz, Alexandra A; O'Quinn, Elizabeth E; Adams, Katherine K; Swaroop, Anand A; Wolf, Bethany Jacobs BJ
Publication Date: 2019

Variant appearance in text: rs3766404
PubMed Link: 30820144
Variant Present in the following documents:
  • Main text
  • mv-v25-79.pdf
View BVdb publication page



Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study.

Jama Ophthalmology
Schellevis, Rosa L RL; van Dijk, Elon H C EHC; Breukink, Myrte B MB; Altay, Lebriz L; Bakker, Bjorn B; Koeleman, Bobby P C BPC; Kiemeney, Lambertus A LA; Swinkels, Dorine W DW; Keunen, Jan E E JEE; Fauser, Sascha S; Hoyng, Carel B CB; den Hollander, Anneke I AI; Boon, Camiel J F CJF; de Jong, Eiko K EK
Publication Date: 2018-10-01

Variant appearance in text: rs3766404
PubMed Link: 30073298
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration.

Molecular Diagnosis & Therapy
Lorés-Motta, Laura L; de Jong, Eiko K EK; den Hollander, Anneke I AI
Publication Date: 2018-06

Variant appearance in text: rs3766404
PubMed Link: 29700787
Variant Present in the following documents:
  • Main text
  • 40291_2018_Article_332.pdf
View BVdb publication page



Risk alleles for IgA nephropathy-associated SNPs conferred completely opposite effects to idiopathic membranous nephropathy in Chinese Han.

Immunologic Research
Qin, Xiaosong X; Wang, Chen C; Lu, Guanting G; Peng, Mengle M; Cheng, Guixue G; Zhu, Hongquan H; Cao, Yun Y; Liu, Jianhua J; Li, Yuzhong Y; Cai, Hong H; Yang, Funing F; Liu, Yanhong Y; Chen, Xiaoyu X; Li, Liubing L; Wan, Nan N; Wen, Xiaoting X; Li, Shijun S; Nie, Ruili R; Qin, Dongchun D; Li, Yongzhe Y; Liu, Yong Y
Publication Date: 2017-10

Variant appearance in text: rs3766404
PubMed Link: 28929317
Variant Present in the following documents:
  • Main text
  • 12026_2017_Article_8947.pdf
View BVdb publication page



Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism.

Bmc Genomics
Woo, Hyung Jun HJ; Yu, Chenggang C; Kumar, Kamal K; Gold, Bert B; Reifman, Jaques J
Publication Date: 2016-08-30

Variant appearance in text: rs3766404
PubMed Link: 27576376
Variant Present in the following documents:
  • 12864_2016_Article_2871.pdf
View BVdb publication page



Complement-Regulatory Proteins CFHR1 and CFHR3 and Patient Response to Anti-CD20 Monoclonal Antibody Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Rogers, Laura M LM; Mott, Sarah L SL; Smith, Brian J BJ; Link, Brian K BK; Sahin, Deniz D; Weiner, George J GJ
Publication Date: 2017-02-15

Variant appearance in text: rs3766404
PubMed Link: 27528699
Variant Present in the following documents:
  • Main text
View BVdb publication page



No Sex Differences in the Frequencies of Common Single Nucleotide Polymorphisms Associated with Age-Related Macular Degeneration.

Current Eye Research
Popp, Nicholas A NA; Agrón, Elvira E; Hageman, Gregory S GS; Tuo, Jingsheng J; Chew, Emily Y EY; Chan, Chi-Chao CC
Publication Date: 2017-03

Variant appearance in text: rs3766404
PubMed Link: 27420564
Variant Present in the following documents:
  • Main text
View BVdb publication page



AMD Genetics in India: The Missing Links.

Frontiers In Aging Neuroscience
Anand, Akshay A; Sharma, Kaushal K; Sharma, Suresh K SK; Singh, Ramandeep R; Sharma, Neel K NK; Prasad, Keshava K
Publication Date: 2016

Variant appearance in text: rs3766404
PubMed Link: 27252648
Variant Present in the following documents:
  • Main text
  • fnagi-08-00115.pdf
View BVdb publication page



Management of neovascular age-related macular degeneration: current state-of-the-art care for optimizing visual outcomes and therapies in development.

Clinical Ophthalmology (Auckland, N.Z.)
Agarwal, Aniruddha A; Rhoades, William R WR; Hanout, Mostafa M; Soliman, Mohamed Kamel MK; Sarwar, Salman S; Sadiq, Mohammad Ali MA; Sepah, Yasir Jamal YJ; Do, Diana V DV; Nguyen, Quan Dong QD
Publication Date: 2015

Variant appearance in text: rs3766404
PubMed Link: 26089632
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of new susceptibility loci for IgA nephropathy in Han Chinese.

Nature Communications
Li, Ming M; Foo, Jia-Nee JN; Wang, Jin-Quan JQ; Low, Hui-Qi HQ; Tang, Xue-Qing XQ; Toh, Kai-Yee KY; Yin, Pei-Ran PR; Khor, Chiea-Chuen CC; Goh, Yu-Fen YF; Irwan, Ishak D ID; Xu, Ri-Cong RC; Andiappan, Anand K AK; Bei, Jin-Xin JX; Rotzschke, Olaf O; Chen, Meng-Hua MH; Cheng, Ching-Yu CY; Sun, Liang-Dan LD; Jiang, Geng-Ru GR; Wong, Tien-Yin TY; Lin, Hong-Li HL; Aung, Tin T; Liao, Yun-Hua YH; Saw, Seang-Mei SM; Ye, Kun K; Ebstein, Richard P RP; Chen, Qin-Kai QK; Shi, Wei W; Chew, Soo-Hong SH; Chen, Jian J; Zhang, Fu-Ren FR; Li, Sheng-Ping SP; Xu, Gang G; Shyong Tai, E E; Wang, Li L; Chen, Nan N; Zhang, Xue-Jun XJ; Zeng, Yi-Xin YX; Zhang, Hong H; Liu, Zhi-Hong ZH; Yu, Xue-Qing XQ; Liu, Jian-Jun JJ
Publication Date: 2015-06-01

Variant appearance in text: rs3766404
PubMed Link: 26028593
Variant Present in the following documents:
  • ncomms8270-s1.pdf
View BVdb publication page



A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival.

Bmc Medical Genetics
Baecklund, Fredrik F; Foo, Jia-Nee JN; Bracci, Paige P; Darabi, Hatef H; Karlsson, Robert R; Hjalgrim, Henrik H; Rosenquist, Richard R; Adami, Hans-Olov HO; Glimelius, Bengt B; Melbye, Mads M; Conde, Lucia L; Liu, Jianjun J; Humphreys, Keith K; Skibola, Christine F CF; Smedby, Karin E KE
Publication Date: 2014-10-08

Variant appearance in text: rs3766404
PubMed Link: 25294155
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_113.pdf
View BVdb publication page



Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study.

Investigative Ophthalmology & Visual Science
Restrepo, Nicole A NA; Spencer, Kylee L KL; Goodloe, Robert R; Garrett, Tiana A TA; Heiss, Gerardo G; Bůžková, Petra P; Jorgensen, Neal N; Jensen, Richard A RA; Matise, Tara C TC; Hindorff, Lucia A LA; Klein, Barbara E K BE; Klein, Ronald R; Wong, Tien Y TY; Cheng, Ching-Yu CY; Cornes, Belinda K BK; Tai, E-Shyong ES; Ritchie, Marylyn D MD; Haines, Jonathan L JL; Crawford, Dana C DC
Publication Date: 2014-09-09

Variant appearance in text: rs3766404
PubMed Link: 25205864
Variant Present in the following documents:
  • Main text
View BVdb publication page



The associations between immunity-related genes and breast cancer prognosis in Korean women.

Plos One
Choi, Jaesung J; Song, Nan N; Han, Sohee S; Chung, Seokang S; Sung, Hyuna H; Lee, Ji-young JY; Jung, Sunjae S; Park, Sue K SK; Yoo, Keun-Young KY; Han, Wonshik W; Lee, Jong Won JW; Noh, Dong-Young DY; Kang, Daehee D; Choi, Ji-Yeob JY
Publication Date: 2014

Variant appearance in text: rs3766404
PubMed Link: 25075970
Variant Present in the following documents:
  • Main text
  • pone.0103593.pdf
View BVdb publication page



Detecting rare haplotype-environment interaction with logistic Bayesian LASSO.

Genetic Epidemiology
Biswas, Swati S; Xia, Shuang S; Lin, Shili S
Publication Date: 2014-01

Variant appearance in text: rs3766404
PubMed Link: 24272913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.

Human Molecular Genetics
Ansari, Morad M; McKeigue, Paul M PM; Skerka, Christine C; Hayward, Caroline C; Rudan, Igor I; Vitart, Veronique V; Polasek, Ozren O; Armbrecht, Ana-Maria AM; Yates, John R W JR; Vatavuk, Zoran Z; Bencic, Goran G; Kolcic, Ivana I; Oostra, Ben A BA; Van Duijn, Cornelia M CM; Campbell, Susan S; Stanton, Chloe M CM; Huffman, Jennifer J; Shu, Xinhua X; Khan, Jane C JC; Shahid, Humma H; Harding, Simon P SP; Bishop, Paul N PN; Deary, Ian J IJ; Moore, Anthony T AT; Dhillon, Baljean B; Rudan, Pavao P; Zipfel, Peter F PF; Sim, Robert B RB; Hastie, Nicholas D ND; Campbell, Harry H; Wright, Alan F AF
Publication Date: 2013-12-01

Variant appearance in text: rs3766404
PubMed Link: 23873044
Variant Present in the following documents:
  • Main text
  • ddt336.pdf
View BVdb publication page



The primary glomerulonephritides: a systems biology approach.

Nature Reviews. Nephrology
Jiang, Song S; Chuang, Peter Y PY; Liu, Zhi-Hong ZH; He, John C JC
Publication Date: 2013-09

Variant appearance in text: rs3766404
PubMed Link: 23856995
Variant Present in the following documents:
  • Main text
View BVdb publication page



Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.

Plos Genetics
Kiryluk, Krzysztof K; Li, Yifu Y; Sanna-Cherchi, Simone S; Rohanizadegan, Mersedeh M; Suzuki, Hitoshi H; Eitner, Frank F; Snyder, Holly J HJ; Choi, Murim M; Hou, Ping P; Scolari, Francesco F; Izzi, Claudia C; Gigante, Maddalena M; Gesualdo, Loreto L; Savoldi, Silvana S; Amoroso, Antonio A; Cusi, Daniele D; Zamboli, Pasquale P; Julian, Bruce A BA; Novak, Jan J; Wyatt, Robert J RJ; Mucha, Krzysztof K; Perola, Markus M; Kristiansson, Kati K; Viktorin, Alexander A; Magnusson, Patrik K PK; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Boland, Anne A; Metzger, Marie M; Thibaudin, Lise L; Wanner, Christoph C; Jager, Kitty J KJ; Goto, Shin S; Maixnerova, Dita D; Karnib, Hussein H HH; Nagy, Judit J; Panzer, Ulf U; Xie, Jingyuan J; Chen, Nan N; Tesar, Vladimir V; Narita, Ichiei I; Berthoux, Francois F; Floege, Jürgen J; Stengel, Benedicte B; Zhang, Hong H; Lifton, Richard P RP; Gharavi, Ali G AG
Publication Date: 2012

Variant appearance in text: rs3766404
PubMed Link: 22737082
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline variation in complement genes and event-free survival in follicular and diffuse large B-cell lymphoma.

American Journal Of Hematology
Charbonneau, Bridget B; Maurer, Matthew J MJ; Fredericksen, Zachary S ZS; Zent, Clive S CS; Link, Brian K BK; Novak, Anne J AJ; Ansell, Stephen M SM; Weiner, George J GJ; Wang, Alice H AH; Witzig, Thomas E TE; Dogan, Ahmet A; Slager, Susan L SL; Habermann, Thomas M TM; Cerhan, James R JR
Publication Date: 2012-09

Variant appearance in text: rs3766404
PubMed Link: 22718493
Variant Present in the following documents:
  • Main text
View BVdb publication page



The influence of genetics on response to treatment with ranibizumab (Lucentis) for age-related macular degeneration: the Lucentis Genotype Study (an American Ophthalmological Society thesis).

Transactions Of The American Ophthalmological Society
Francis, Peter James PJ
Publication Date: 2011-12

Variant appearance in text: rs3766404
PubMed Link: 22253485
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma biomarkers of oxidative stress and genetic variants in age-related macular degeneration.

American Journal Of Ophthalmology
Brantley, Milam A MA; Osborn, Melissa P MP; Sanders, Barton J BJ; Rezaei, Kasra A KA; Lu, Pengcheng P; Li, Chun C; Milne, Ginger L GL; Cai, Jiyang J; Sternberg, Paul P
Publication Date: 2012-03

Variant appearance in text: rs3766404
PubMed Link: 22035603
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2011

Variant appearance in text: rs3766404
PubMed Link: 21850184
Variant Present in the following documents:
  • Main text
  • mv-v17-2080.pdf
View BVdb publication page



Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.

Plos Genetics
Zhao, Jian J; Wu, Hui H; Khosravi, Melanie M; Cui, Huijuan H; Qian, Xiaoxia X; Kelly, Jennifer A JA; Kaufman, Kenneth M KM; Langefeld, Carl D CD; Williams, Adrienne H AH; Comeau, Mary E ME; Ziegler, Julie T JT; Marion, Miranda C MC; Adler, Adam A; Glenn, Stuart B SB; Alarcón-Riquelme, Marta E ME; , ; , ; Pons-Estel, Bernardo A BA; Harley, John B JB; Bae, Sang-Cheol SC; Bang, So-Young SY; Cho, Soo-Kyung SK; Jacob, Chaim O CO; Vyse, Timothy J TJ; Niewold, Timothy B TB; Gaffney, Patrick M PM; Moser, Kathy L KL; Kimberly, Robert P RP; Edberg, Jeffrey C JC; Brown, Elizabeth E EE; Alarcon, Graciela S GS; Petri, Michelle A MA; Ramsey-Goldman, Rosalind R; Vilá, Luis M LM; Reveille, John D JD; James, Judith A JA; Gilkeson, Gary S GS; Kamen, Diane L DL; Freedman, Barry I BI; Anaya, Juan-Manuel JM; Merrill, Joan T JT; Criswell, Lindsey A LA; Scofield, R Hal RH; Stevens, Anne M AM; Guthridge, Joel M JM; Chang, Deh-Ming DM; Song, Yeong Wook YW; Park, Ji Ah JA; Lee, Eun Young EY; Boackle, Susan A SA; Grossman, Jennifer M JM; Hahn, Bevra H BH; Goodship, Timothy H J TH; Cantor, Rita M RM; Yu, Chack-Yung CY; Shen, Nan N; Tsao, Betty P BP
Publication Date: 2011-05

Variant appearance in text: rs3766404
PubMed Link: 21637784
Variant Present in the following documents:
  • pgen.1002079.s001.xls, sheet 1
View BVdb publication page



Genome-wide association study identifies susceptibility loci for IgA nephropathy.

Nature Genetics
Gharavi, Ali G AG; Kiryluk, Krzysztof K; Choi, Murim M; Li, Yifu Y; Hou, Ping P; Xie, Jingyuan J; Sanna-Cherchi, Simone S; Men, Clara J CJ; Julian, Bruce A BA; Wyatt, Robert J RJ; Novak, Jan J; He, John C JC; Wang, Haiyan H; Lv, Jicheng J; Zhu, Li L; Wang, Weiming W; Wang, Zhaohui Z; Yasuno, Kasuhito K; Gunel, Murat M; Mane, Shrikant S; Umlauf, Sheila S; Tikhonova, Irina I; Beerman, Isabel I; Savoldi, Silvana S; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Bodria, Monica M; Lugani, Francesca F; Ravani, Pietro P; Ponticelli, Claudio C; Allegri, Landino L; Boscutti, Giuliano G; Frasca, Giovanni G; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Izzi, Claudia C; Viola, Battista Fabio BF; Prati, Elisabetta E; Salvadori, Maurizio M; Mignani, Renzo R; Gesualdo, Loreto L; Bertinetto, Francesca F; Mesiano, Paola P; Amoroso, Antonio A; Scolari, Francesco F; Chen, Nan N; Zhang, Hong H; Lifton, Richard P RP
Publication Date: 2011-03-13

Variant appearance in text: rs3766404
PubMed Link: 21399633
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic association study of age-related macular degeneration in the Spanish population.

Acta Ophthalmologica
Brión, María M; Sanchez-Salorio, Manuel M; Cortón, Marta M; de la Fuente, Maria M; Pazos, Belen B; Othman, Mohammad M; Swaroop, Anand A; Abecasis, Goncalo G; Sobrino, Beatriz B; Carracedo, Angel A; ,
Publication Date: 2011-02

Variant appearance in text: rs3766404
PubMed Link: 21106043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.

Ophthalmology
Lima, Luiz H LH; Schubert, Carl C; Ferrara, Daniela C DC; Merriam, Joanna E JE; Imamura, Yutaka Y; Freund, K Bailey KB; Spaide, Richard F RF; Yannuzzi, Lawrence A LA; Allikmets, Rando R
Publication Date: 2010-08

Variant appearance in text: rs3766404
PubMed Link: 20378180
Variant Present in the following documents:
  • Main text
View BVdb publication page



New era for personalized medicine: the diagnosis and management of age-related macular degeneration.

Clinical & Experimental Ophthalmology
Baird, Paul N PN; Hageman, Gregory S GS; Guymer, Robyn H RH
Publication Date: 2009-11

Variant appearance in text: rs3766404
PubMed Link: 19878229
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.

Plos One
Francis, Peter J PJ; Schultz, Dennis W DW; Hamon, Sara S; Ott, Jurg J; Weleber, Richard G RG; Klein, Michael L ML
Publication Date: 2007-11-28

Variant appearance in text: rs3766404
PubMed Link: 18043728
Variant Present in the following documents:
  • Main text
  • pone.0001197.pdf
View BVdb publication page



A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hageman, Gregory S GS; Anderson, Don H DH; Johnson, Lincoln V LV; Hancox, Lisa S LS; Taiber, Andrew J AJ; Hardisty, Lisa I LI; Hageman, Jill L JL; Stockman, Heather A HA; Borchardt, James D JD; Gehrs, Karen M KM; Smith, Richard J H RJ; Silvestri, Giuliana G; Russell, Stephen R SR; Klaver, Caroline C W CC; Barbazetto, Irene I; Chang, Stanley S; Yannuzzi, Lawrence A LA; Barile, Gaetano R GR; Merriam, John C JC; Smith, R Theodore RT; Olsh, Adam K AK; Bergeron, Julie J; Zernant, Jana J; Merriam, Joanna E JE; Gold, Bert B; Dean, Michael M; Allikmets, Rando R
Publication Date: 2005-05-17

Variant appearance in text: rs3766404
PubMed Link: 15870199
Variant Present in the following documents:
  • Main text
View BVdb publication page