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    COL8A1 collagen type VIII alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 1295, updated on 16-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    COL8A1 Regulates Esophageal Squamous Carcinoma Proliferation and Invasion Through PI3K/AKT Pathway.

    COL8A1 Regulates Esophageal Squamous Carcinoma Proliferation and Invasion Through PI3K/AKT Pathway.
    Hu J, Li P, Dan Y, Chen Z, Lu Y, Chen X, Yan S.

    04/15/2024
    Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.

    Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.
    Ogreden TA, Erdoğan G., Free PMC Article

    04/12/2024
    Molecular prognostic of nine parthanatos death-related genes in glioma, particularly in COL8A1 identification.

    Molecular prognostic of nine parthanatos death-related genes in glioma, particularly in COL8A1 identification.
    Fan S, Li H, Liu K.

    02/24/2024
    COL8A1 enhances the invasion/metastasis in MDA-MB-231 cells via the induction of IL1B and MMP1 expression.

    COL8A1 enhances the invasion/metastasis in MDA-MB-231 cells via the induction of IL1B and MMP1 expression.
    Sagara A, Miura S, Kobinata A, Naganawa R, Yaginuma S, Saito S, Saito R, Kominato H, Yumoto T, Sato F.

    01/28/2023
    Tumor and stroma COL8A1 secretion induces autocrine and paracrine progression signaling in pancreatic ductal adenocarcinoma.

    Tumor and stroma COL8A1 secretion induces autocrine and paracrine progression signaling in pancreatic ductal adenocarcinoma.
    Yan B, Liu L, Zhao L, Hinz U, Luo Y, An X, Gladkich J, de la Torre C, Huang Z, Schrapel D, Gross W, Fortunato F, Schaefer M, Gaida MM, Herr I.

    12/10/2022
    COL8A1 facilitates the growth of triple-negative breast cancer via FAK/Src activation.

    COL8A1 facilitates the growth of triple-negative breast cancer via FAK/Src activation.
    Sato F, Sagara A, Tajima K, Miura S, Inaba K, Ando Y, Oku T, Murakami T, Kato Y, Yumoto T.

    07/2/2022
    Serum Levels of ARMS2, COL8A1, RAD51B, and VEGF and their Correlations in Age-related Macular Degeneration.

    Serum Levels of ARMS2, COL8A1, RAD51B, and VEGF and their Correlations in Age-related Macular Degeneration.
    Battu P, Sharma K, Rain M, Singh R, Anand A.

    02/26/2022
    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.

    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.
    Caputo V, Strafella C, Termine A, Campione E, Bianchi L, Novelli G, Giardina E, Cascella R., Free PMC Article

    02/13/2021
    Serum vastatin (the NC1 domain of human type VIII collagen a1 chain) was detectable in 114 of 115 colorectal cancer (CRC) subjects and was elevated in blood of CRC patients compared to controls. Vastatin correlated with age in controls but not in patients with CRC. Results indicate that vastatin is linked to stromal reactivity and suggests that vastatin has biomarker potential in CRC.

    Vastatin (the NC1 domain of human type VIII collagen a1 chain) is linked to stromal reactivity and elevated in serum from patients with colorectal cancer.
    Willumsen N, Jorgensen LN, Karsdal MA., Free PMC Article

    07/11/2020
    Single nucleotide polymorphisms in the COL8A1 gene is associated with idiopathic choroidal neovascularization.

    Genetic factors for idiopathic choroidal neovascularization.
    Cao XS, Peng XY, You QS, Liu F, Ding YJ, Yang HL.

    05/16/2020
    three polymorphisms located in COL6A5, COL8A1, and COL10A1 were investigated as potential susceptibility biomarkers for atopic eczema.

    Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations.
    Strafella C, Caputo V, Minozzi G, Milano F, Arcangeli M, Sobhy N, Abdelmaksood R, Hashad D, Vakirlis E, Novelli G, Cascella R, Giardina E., Free PMC Article

    01/4/2020
    COL8A1 rs13095226 is strongly associated with exudative age-related macular degeneration risk.

    RAD51B (rs8017304 and rs2588809), TRIB1 (rs6987702, rs4351379, and rs4351376), COL8A1 (rs13095226), and COL10A1 (rs1064583) Gene Variants with Predisposition to Age-Related Macular Degeneration.
    Vilkeviciute A, Kriauciuniene L, Chaleckis R, Deltuva VP, Liutkeviciene R., Free PMC Article

    12/21/2019
    We demonstrated the presence of Col8a1 in Bruch's membrane, further supporting the role of COL8A1 variants in AMD pathogenesis. Protein-altering variants in COL8A1 may alter the integrity of Bruch's membrane, contributing to the accumulation of drusen and the development of AMD.

    Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
    Corominas J, Colijn JM, Geerlings MJ, Pauper M, Bakker B, Amin N, Lores Motta L, Kersten E, Garanto A, Verlouw JAM, van Rooij JGJ, Kraaij R, de Jong PTVM, Hofman A, Vingerling JR, Schick T, Fauser S, de Jong EK, van Duijn CM, Hoyng CB, Klaver CCW, den Hollander AI., Free PMC Article

    09/7/2019
    Polymorphisms in COL8A1 is associated with Polycystic ovary syndrome and type-2 diabetes.

    Impact of variants on type-2 diabetes risk genes identified through genomewide association studies in polycystic ovary syndrome: a case-control study.
    Ezzidi I, Mtiraoui N, Mohmmed Ali ME, Masoudi AA, Abu Duhier F.

    02/16/2019
    COL8A1 was identified and proved to be correlated with the progression and prognosis of human colon adenocarcinoma, probably through regulating focal adhesion-related pathways.

    Co-expression Network Analysis Identified COL8A1 Is Associated with the Progression and Prognosis in Human Colon Adenocarcinoma.
    Shang J, Wang F, Chen P, Wang X, Ding F, Liu S, Zhao Q.

    05/26/2018
    High COL8A1 level is associated with chronic obstructive pulmonary disease and cancer.

    Type VIII collagen is elevated in diseases associated with angiogenesis and vascular remodeling.
    Hansen NU, Willumsen N, Sand JM, Larsen L, Karsdal MA, Leeming DJ.

    02/18/2017
    The COL8A1 rs13095226 polymorphism is not associated with nAMD or PCV, which suggesting this gene maybe not a susceptibility gene locus for neovascular age-related macular degeneration (nAMD) or polypoidal choroidal vasculopathy (PCV) in Chinese subjects.

    COL8A1 rs13095226 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in Chinese subjects.
    Yu Y, Huang L, Wang B, Zhang C, Bai Y, Li X., Free PMC Article

    12/17/2016
    High COL8A1 expression is associated with early loss of kidney function.

    Biomarkers for Refractory Lupus Nephritis: A Microarray Study of Kidney Tissue.
    Benjachat T, Tongyoo P, Tantivitayakul P, Somparn P, Hirankarn N, Prom-On S, Pisitkun P, Leelahavanichkul A, Avihingsanon Y, Townamchai N., Free PMC Article

    04/9/2016
    Data indicate that complement factor H (CFH) R1210C and common variants in COL8A1 and RAD51B plus six genes contribute predictive information for advanced macular degeneration (AMD) beyond macular and behavioral phenotypes.

    Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.
    Seddon JM, Reynolds R, Yu Y, Rosner B., Free PMC Article

    11/8/2014
    The results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions.

    CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.
    Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC, Mesa SC, Cuartas M, Garcia J, Bedoya G, Cornejo W, Herrera LD, Romero R, Fournier E, Reus VI, Lowe TL, Farooqi IS, Tourette Syndrome Association International Consortium for Genetics, Mathews CA, McGrath LM, Yu D, Cook E, Wang K, Scharf JM, Pauls DL, Freimer NB, Plagnol V, Ruiz-Linares A., Free PMC Article

    09/14/2013
    In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample.

    Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.
    Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I., Free PMC Article

    08/31/2013
    The purpose of this study is to evaluate COL8A1 and COL8A2 as candidate genes for thin central corneal thickness in human primary open angle glaucoma patients.

    Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.
    Desronvil T, Logan-Wyatt D, Abdrabou W, Triana M, Jones R, Taheri S, Del Bono E, Pasquale LR, Olivier M, Haines JL, Fan BJ, Wiggs JL., Free PMC Article

    02/26/2011
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Observational study of gene-disease association. (HuGE Navigator)

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article

    09/15/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
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