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    COL9A2 collagen type IX alpha 2 chain [ Homo sapiens (human) ]

    Gene ID: 1298, updated on 21-Apr-2018

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Study provides evidence that the COL9A2 Gln326Arg polymorphism contributes to the development of intervertebral disc disease in the Chinese population.

    Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population.
    Meng T, Ren Q, Wang JM, Shi H, Zhang ST, Liu MT.

    03/4/2017
    Meta-analysis. Our results suggest that the COL9A2 rs12077871, rs12722877, and rs7533552 polymorphisms may not be associated with lumbar disc disease.

    Meta-analysis of the association between COL9A2 genetic polymorphisms and lumbar disc disease susceptibility.
    Zhang Z, Zhang J, Ding L, Teng X.

    05/28/2016
    Two novel mutations, c.143G>C in exon 2 and c.884G>A in exon 17 of the COL9A2 gene, may contribute to the development of pathological myopia.

    [Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia].
    Chen R, Gong B, Li Q, Zeng G, Hao F, Li N, Shi Y, Zhang D.

    06/7/2014
    The allelic variants in the collagen IX genes - COL9A2 and COL9A3 have been identified as genetic risk factors for intervertebral disc disease--{review}

    The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease.
    Janeczko Ł, Janeczko M, Chrzanowski R, Zieliński G.

    05/10/2014
    The NC2 domain of type IX collagen determines the chain composition but also the chain register of the triple helix.

    The NC2 domain of type IX collagen determines the chain register of the triple helix.
    Boudko SP, Bächinger HP., Free PMC Article

    03/30/2013
    Studies indicate that two SNPs that introduce tryptophan polymorphisms in COL9A2 and COL9A3 are independently linked to an increased risk of lumbar disc disease.

    Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk alleles.
    Zhu Y, Wu JJ, Weis MA, Mirza SK, Eyre DR., Free PMC Article

    03/17/2012
    Data indicate that no causal SNPs in COL9A2 were significantly associated with LSS, but Haplotype Analysis showed that the "GCAGCG" haplotype (HAP2) was overrepresented in LSS patients.

    A haplotype at the COL9A2 gene locus contributes to the genetic risk for lumbar spinal stenosis in the Korean population.
    Hyun SJ, Park BG, Rhim SC, Bae CW, Lee JK, Roh SW, Jeon SR.

    12/17/2011
    loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

    A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
    Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L.

    10/15/2011
    Data show that the associating G allele in COL9A2 changes a glutamine to arginine or to tryptophan and may predispose to both hip osteoarthritis and lumbar disc degeneration, making it a candidate for degenerative connective tissue diseases.

    Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degeneration.
    Näkki A, Videman T, Kujala UM, Suhonen M, Männikkö M, Peltonen L, Battié MC, Kaprio J, Saarela J.

    07/23/2011
    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
    This study extends the range of gene-mutations that can cause multiple epiphyseal dysplasia-related myopathy.

    Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
    Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD., Free PMC Article

    07/12/2010
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies.
    Karppinen J, Daavittila I, Solovieva S, Kuisma M, Taimela S, Natri A, Haapea M, Korpelainen R, Niinimäki J, Tervonen O, Ala-Kokko L, Männikkö M.

    05/21/2008
    Homozygosity for the Arg allele of Col9A2 seems to be more frequent in the patient group with early recurrence although the differences in the allele frequencies were statistically not significant.

    Absence of the mutated Trp2 allele but a common polymorphism of the COL9A2 collagen gene is associated with early recurrence after lumbar discectomy in a German population.
    Knoeringer M, Reinke A, Trappe AE, Schlegel J, Knoeringer M, Reinke A, Trappe AE, Schlegel J., Free PMC Articles: PMC2270378, PMC2270378

    01/21/2010
    Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)

    Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
    Jakkula E, Mäkitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L.

    03/13/2008
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (14) articles

    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..

    Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
    Videman T, Saarela J, Kaprio J, Näkki A, Levälahti E, Gill K, Peltonen L, Battié MC.

    Expression of the Trp2 allele of COL9A2 is associated with alterations in the mechanical properties of human intervertebral discs.
    Aladin DM, Cheung KM, Chan D, Yee AF, Jim JJ, Luk KD, Lu WW, Aladin DM, Cheung KM, Chan D, Yee AF, Jim JJ, Luk KD, Lu WW.

    Absence of the mutated Trp2 allele but a common polymorphism of the COL9A2 collagen gene is associated with early recurrence after lumbar discectomy in a German population.
    Knoeringer M, Reinke A, Trappe AE, Schlegel J, Knoeringer M, Reinke A, Trappe AE, Schlegel J.

    Occupational and genetic risk factors associated with intervertebral disc disease.
    Virtanen IM, Karppinen J, Taimela S, Ott J, Barral S, Kaikkonen K, Heikkilä O, Mutanen P, Noponen N, Männikkö M, Tervonen O, Natri A, Ala-Kokko L.

    Association study of COL9A2 with lumbar disc disease in the Japanese population.
    Seki S, Kawaguchi Y, Mori M, Mio F, Chiba K, Mikami Y, Tsunoda T, Kubo T, Toyama Y, Kimura T, Ikegawa S, Seki S, Kawaguchi Y, Mori M, Mio F, Chiba K, Mikami Y, Tsunoda T, Kubo T, Toyama Y, Kimura T, Ikegawa S.

    The alpha2 type IX collagen tryptophan polymorphism is associated with the severity of disc degeneration in younger patients with herniated nucleus pulposus of the lumbar spine.
    Higashino K, Matsui Y, Yagi S, Takata Y, Goto T, Sakai T, Katoh S, Yasui N.

    The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration.
    Jim JJ, Noponen-Hietala N, Cheung KM, Ott J, Karppinen J, Sahraravand A, Luk KD, Yip SP, Sham PC, Song YQ, Leong JC, Cheah KS, Ala-Kokko L, Chan D, Jim JJ, Noponen-Hietala N, Cheung KM, Ott J, Karppinen J, Sahraravand A, Luk KD, Yip SP, Sham PC, Song YQ, Leong JC, Cheah KS, Ala-Kokko L, Chan D.

    The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population.
    Takata Y, Matsui Y, Hamada D, Goto T, Kubo T, Egawa H, Nakano S, Shinomiya F, Inoue H, Itakura M, Yasui N.

    Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.
    Solovieva S, Lohiniva J, Leino-Arjas P, Raininko R, Luoma K, Ala-Kokko L, Riihimäki H.

    The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
    Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, Warman ML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L.

    The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients.
    Kales SN, Linos A, Chatzis C, Sai Y, Halla M, Nasioulas G, Christiani DC.

    Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica.
    Karppinen J, Pääkkö E, Räinä S, Tervonen O, Kurunlahti M, Nieminen P, Ala-Kokko L, Malmivaara A, Vanharanta H.

    Identification of a novel common genetic risk factor for lumbar disk disease.
    Paassilta P, Lohiniva J, Göring HH, Perälä M, Räinä SS, Karppinen J, Hakala M, Palm T, Kröger H, Kaitila I, Vanharanta H, Ott J, Ala-Kokko L.

    03/13/2008
    COL9A2 polymorphisms were associated with intervertebral disc mechanics, relating genetic variations and debilitating mechanical alterations that may ultimately result in intervertebral disc degeneration.

    Expression of the Trp2 allele of COL9A2 is associated with alterations in the mechanical properties of human intervertebral discs.
    Aladin DM, Cheung KM, Chan D, Yee AF, Jim JJ, Luk KD, Lu WW, Aladin DM, Cheung KM, Chan D, Yee AF, Jim JJ, Luk KD, Lu WW.

    01/21/2010
    Both Trp2 and Trp3 allelic products are incorporated into cross-linked fibrillar network of developing human cartilage apparently normally. Any pathological consequences are likely to be long-term and indirect rather than from overt misassembly of matrix.

    Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage.
    Matsui Y, Wu JJ, Weis MA, Pietka T, Eyre DR.

    01/21/2010
    A Japanese family with an autosomal dominant multiple epiphyseal dysplasia (MED EDM2) was studied; genomic analysis for COL9A2 identified an Ex3-1A>G heterozygous mutation, which has been proved to result in skipping of exon 3.

    Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2).
    Takahashi M, Matsui Y, Goto T, Nishimura G, Ikegawa S, Ohashi H, Yasui N.

    01/21/2010
    mutations leading to skipping of exon 3 within the COL3 domain of the alpha2-chain of collagen type IX may be relatively common in patients with a special subtype of multiple epiphyseal dysplasia

    Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2).
    Fiedler J, Stöve J, Heber F, Brenner RE.

    01/21/2010
    The collagen IX is cartilage specific, and expressed in hypertrophic chondrocytes and bone.

    Musculoskeletal differentiation of cells derived from human embryonic germ cells.
    Kim MS, Hwang NS, Lee J, Kim TK, Leong K, Shamblott MJ, Gearhart J, Elisseeff J.

    01/21/2010
    Association of a COL9A2 specific haplotype with lumbar disc disease in the Japanese population.

    Association study of COL9A2 with lumbar disc disease in the Japanese population.
    Seki S, Kawaguchi Y, Mori M, Mio F, Chiba K, Mikami Y, Tsunoda T, Kubo T, Toyama Y, Kimura T, Ikegawa S, Seki S, Kawaguchi Y, Mori M, Mio F, Chiba K, Mikami Y, Tsunoda T, Kubo T, Toyama Y, Kimura T, Ikegawa S.

    01/21/2010
    A population study using magnetic resonance imaging to define degenerative disc disease demonstrates that the TRP2 allele (Gln326Trp)of COL9A2 is a significant risk factor for development and severity of degeneration.

    The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration.
    Jim JJ, Noponen-Hietala N, Cheung KM, Ott J, Karppinen J, Sahraravand A, Luk KD, Yip SP, Sham PC, Song YQ, Leong JC, Cheah KS, Ala-Kokko L, Chan D, Jim JJ, Noponen-Hietala N, Cheung KM, Ott J, Karppinen J, Sahraravand A, Luk KD, Yip SP, Sham PC, Song YQ, Leong JC, Cheah KS, Ala-Kokko L, Chan D.

    01/21/2010
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