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No significant association was found between COL9A2 polymorphism rs7533552 and the risk of lumbar disc degeneration.
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rs12077871, rs12722877, and rs7533552 variants in COL9A2 were not significantly associated with a predisposition to lumbar disc degeneration.
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Study provides evidence that the COL9A2 Gln326Arg polymorphism contributes to the development of intervertebral disc disease in the Chinese population.
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Meta-analysis. Our results suggest that the COL9A2 rs12077871, rs12722877, and rs7533552 polymorphisms may not be associated with lumbar disc disease.
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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.
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The allelic variants in the collagen IX genes - COL9A2 and COL9A3 have been identified as genetic risk factors for intervertebral disc disease--{review}
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The NC2 domain of type IX collagen determines the chain composition but also the chain register of the triple helix.
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Studies indicate that two SNPs that introduce tryptophan polymorphisms in COL9A2 and COL9A3 are independently linked to an increased risk of lumbar disc disease.
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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.
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loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome
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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.
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This study extends the range of gene-mutations that can cause multiple epiphyseal dysplasia-related myopathy.
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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
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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.
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The collagen IX is cartilage specific, and expressed in hypertrophic chondrocytes and bone.
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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.
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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.
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Association of a COL9A2 specific haplotype with lumbar disc disease in the Japanese population.
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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.
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COL9A2 polymorphisms were associated with intervertebral disc mechanics, relating genetic variations and debilitating mechanical alterations that may ultimately result in intervertebral disc degeneration.
