COL8A1 c.-4+17674G>T

Variant ID: 3-99481539-G-T

NM_020351.4(COL8A1):c.-4+17674G>T

This variant was identified in 27 publications

View GRCh38 version.




Publications:


The Associations of Single Nucleotide Polymorphisms of the COL3A1, COL6A5, and COL8A1 Genes with Atopic Dermatitis.

Journal Of Personalized Medicine
Szalus, Krzysztof K; Zysk, Weronika W; Gleń, Jolanta J; Zabłotna, Monika M; Nowicki, Roman J RJ; Trzeciak, Magdalena M
Publication Date: 2023-04-13

Variant appearance in text: rs13081855
PubMed Link: 37109047
Variant Present in the following documents:
  • Main text
  • jpm-13-00661.pdf
View BVdb publication page



Biomarkers in psoriatic arthritis: A meta-analysis and systematic review.

Frontiers In Immunology
Wirth, Theo T; Balandraud, Nathalie N; Boyer, Laurent L; Lafforgue, Pierre P; Pham, Thao T
Publication Date: 2022

Variant appearance in text: rs13081855
PubMed Link: 36532039
Variant Present in the following documents:
  • Main text
  • fimmu-13-1054539.pdf
View BVdb publication page



WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors.

Journal Of Personalized Medicine
Fabrizio, Carlo C; Termine, Andrea A; Caputo, Valerio V; Megalizzi, Domenica D; Zampatti, Stefania S; Falsini, Benedetto B; Cusumano, Andrea A; Eandi, Chiara Maria CM; Ricci, Federico F; Giardina, Emiliano E; Strafella, Claudia C; Cascella, Raffaella R
Publication Date: 2022-06-24

Variant appearance in text: rs13081855
PubMed Link: 35887531
Variant Present in the following documents:
  • Main text
  • jpm-12-01034.pdf
View BVdb publication page



Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.

Molecular Vision
Altay, Lebriz L; Liakopoulos, Sandra S; Berghold, Aileen A; Rosenberger, Kerstin-Daniela KD; Ernst, Angela A; de Breuk, Anita A; den Hollander, Anneke I AI; Fauser, Sascha S; Schick, Tina T
Publication Date: 2021

Variant appearance in text: rs13081855
PubMed Link: 35136347
Variant Present in the following documents:
  • Main text
  • mv-v27-757.pdf
View BVdb publication page



Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy.

Genes & Diseases
Deng, Yanhui Y; Qiao, Lifeng L; Du, Mingyan M; Qu, Chao C; Wan, Ling L; Li, Jie J; Huang, Lulin L
Publication Date: 2022-01

Variant appearance in text: rs13081855
PubMed Link: 35005108
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Sleep Disorders and Psychological Profile in Oral Cancer Survivors: A Case-Control Clinical Study.

Cancers
Gasparro, Roberta R; Calabria, Elena E; Coppola, Noemi N; Marenzi, Gaetano G; Sammartino, Gilberto G; Aria, Massimo M; Mignogna, Michele Davide MD; Adamo, Daniela D
Publication Date: 2021-04-13

Variant appearance in text: rs13081855
PubMed Link: 33924533
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Molecular Pathophysiology of Psoriatic Arthritis-The Complex Interplay Between Genetic Predisposition, Epigenetics Factors, and the Microbiome.

Frontiers In Molecular Biosciences
Carvalho, Ana L AL; Hedrich, Christian M CM
Publication Date: 2021

Variant appearance in text: rs13081855
PubMed Link: 33869291
Variant Present in the following documents:
  • Main text
  • fmolb-08-662047.pdf
View BVdb publication page



Further understanding of epigenetic dysfunction of the retinal pigment epithelium in AMD.

Expert Review Of Ophthalmology
Kenney, Maria Cristina MC; Nashine, Sonali S
Publication Date: 2020

Variant appearance in text: rs13081855
PubMed Link: 33732291
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of risk allele frequencies of single nucleotide polymorphisms associated with age-related macular degeneration in different ethnic groups.

Bmc Ophthalmology
Shin, Hyun-Tae HT; Yoon, Byung Woo BW; Seo, Je Hyun JH
Publication Date: 2021-02-22

Variant appearance in text: rs13081855
PubMed Link: 33618707
Variant Present in the following documents:
  • Main text
  • 12886_2021_Article_1830.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: rs13081855
PubMed Link: 33456587
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes.

Journal Of Cellular And Molecular Medicine
Caputo, Valerio V; Strafella, Claudia C; Termine, Andrea A; Dattola, Annunziata A; Mazzilli, Sara S; Lanna, Caterina C; Cosio, Terenzio T; Campione, Elena E; Novelli, Giuseppe G; Giardina, Emiliano E; Cascella, Raffaella R
Publication Date: 2020-12

Variant appearance in text: rs13081855
PubMed Link: 33128843
Variant Present in the following documents:
  • Main text
  • JCMM-24-13554.pdf
View BVdb publication page



RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects.

International Journal Of Molecular Sciences
Caputo, Valerio V; Strafella, Claudia C; Termine, Andrea A; Campione, Elena E; Bianchi, Luca L; Novelli, Giuseppe G; Giardina, Emiliano E; Cascella, Raffaella R
Publication Date: 2020-04-15

Variant appearance in text: rs13081855
PubMed Link: 32326527
Variant Present in the following documents:
  • Main text
  • ijms-21-02740.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: rs13081855
PubMed Link: 31819893
Variant Present in the following documents:
  • Main text
  • 40662_2019_Article_164.pdf
View BVdb publication page



Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations.

Biomed Research International
Strafella, Claudia C; Caputo, Valerio V; Minozzi, Giulietta G; Milano, Filippo F; Arcangeli, Mauro M; Sobhy, Nagat N; Abdelmaksood, Rania R; Hashad, Doaa D; Vakirlis, Efstratios E; Novelli, Giuseppe G; Cascella, Raffaella R; Giardina, Emiliano E
Publication Date: 2019

Variant appearance in text: rs13081855
PubMed Link: 31275967
Variant Present in the following documents:
  • Main text
View BVdb publication page



RAD51B (rs8017304 and rs2588809), TRIB1 (rs6987702, rs4351379, and rs4351376), COL8A1 (rs13095226), and COL10A1 (rs1064583) Gene Variants with Predisposition to Age-Related Macular Degeneration.

Disease Markers
Vilkeviciute, Alvita A; Kriauciuniene, Loresa L; Chaleckis, Romanas R; Deltuva, Vytenis Pranas VP; Liutkeviciene, Rasa R
Publication Date: 2019

Variant appearance in text: rs13081855
PubMed Link: 31191752
Variant Present in the following documents:
  • Main text
  • DM2019-5631083.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: rs13081855
PubMed Link: 29487693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.

Scientific Reports
Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M
Publication Date: 2018-01-30

Variant appearance in text: rs13081855
PubMed Link: 29382849
Variant Present in the following documents:
  • 41598_2017_19017_MOESM1_ESM.pdf
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: rs13081855
PubMed Link: 27116550
Variant Present in the following documents:
  • i1552-5783-57-4-2225.pdf
View BVdb publication page



Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes.

Investigative Ophthalmology & Visual Science
Shen, Ling L; Hoffmann, Thomas J TJ; Melles, Ronald B RB; Sakoda, Lori C LC; Kvale, Mark N MN; Banda, Yambazi Y; Schaefer, Catherine C; Risch, Neil N; Jorgenson, Eric E
Publication Date: 2015-07

Variant appearance in text: rs13081855
PubMed Link: 26176866
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: rs13081855
PubMed Link: 25568804
Variant Present in the following documents:
  • Main text
  • jcm-03-01335.pdf
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: rs13081855
PubMed Link: 25478207
Variant Present in the following documents:
  • Main text
  • JOPH2014-582842.pdf
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: rs13081855
PubMed Link: 25132797
Variant Present in the following documents:
  • Main text
  • CG-15-266.pdf
View BVdb publication page



Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels.

Plos One
Ristau, Tina T; Paun, Constantin C; Ersoy, Lebriz L; Hahn, Moritz M; Lechanteur, Yara Y; Hoyng, Carel C; de Jong, Eiko K EK; Daha, Mohamed R MR; Kirchhof, Bernd B; den Hollander, Anneke I AI; Fauser, Sascha S
Publication Date: 2014

Variant appearance in text: rs13081855
PubMed Link: 24675670
Variant Present in the following documents:
  • Main text
  • pone.0093459.pdf
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: rs13081855
PubMed Link: 24622760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of age-related macular degeneration in the general population: the Three Continent AMD Consortium.

Ophthalmology
Buitendijk, Gabriëlle H S GHS; Rochtchina, Elena E; Myers, Chelsea C; van Duijn, Cornelia M CM; Lee, Kristine E KE; Klein, Barbara E K BEK; Meuer, Stacy M SM; de Jong, Paulus T V M PTVM; Holliday, Elizabeth G EG; Tan, Ava G AG; Uitterlinden, André G AG; Sivakumaran, Theru S TS; Attia, John J; Hofman, Albert A; Mitchell, Paul P; Vingerling, Johannes R JR; Iyengar, Sudha K SK; Janssens, A Cecile J W ACJW; Wang, Jie Jin JJ; Klein, Ronald R; Klaver, Caroline C W CCW
Publication Date: 2013-12

Variant appearance in text: rs13081855
PubMed Link: 24120328
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related macular degeneration-clinical review and genetics update.

Clinical Genetics
Ratnapriya, R R; Chew, E Y EY
Publication Date: 2013-08

Variant appearance in text: rs13081855
PubMed Link: 23713713
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: rs13081855
PubMed Link: 23455636
Variant Present in the following documents:
  • Main text
  • NIHMS474886-supplement-1.pdf
  • nihms474886.pdf
View BVdb publication page