Genetics of Lumbar Disk Degeneration

[1]  P. O’Reilly,et al.  Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant. , 2013, The Journal of clinical investigation.

[2]  Xiong Guo,et al.  Characterization of microRNA expression profiles in patients with intervertebral disc degeneration , 2013, International journal of molecular medicine.

[3]  A. Hofman,et al.  Extended report: Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects , 2013 .

[4]  N. Tommerup,et al.  Genetic Association Studies in Lumbar Disc Degeneration: A Systematic Review , 2012, PloS one.

[5]  Andres Metspalu,et al.  Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study , 2012, The Lancet.

[6]  P. Lapunzina,et al.  Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta , 2012, Human mutation.

[7]  Inês Barroso,et al.  Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes , 2012, Nature Genetics.

[8]  You-Qiang Song,et al.  Genetic susceptibility of intervertebral disc degeneration among young Finnish adults , 2011, BMC Medical Genetics.

[9]  D. Samartzis,et al.  Structure and biology of the intervertebral disk in health and disease. , 2011, The Orthopedic clinics of North America.

[10]  R. Murray,et al.  Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder , 2011, Human molecular genetics.

[11]  M. Cosar,et al.  Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients. , 2011, Genetics and molecular research : GMR.

[12]  Xinchun Li,et al.  Association of FAS and FAS ligand polymorphisms with the susceptibility and severity of lumbar disc degeneration in Chinese Han population , 2011, Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals.

[13]  D. Balding,et al.  Epigenome-wide association studies for common human diseases , 2011, Nature Reviews Genetics.

[14]  Z. Sun,et al.  Caspase 9 gene polymorphism and susceptibility to lumbar disc disease in the Han population in northern China , 2011, Connective tissue research.

[15]  A Hofman,et al.  GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women , 2011, Arthritis and rheumatism.

[16]  R. Hegele.  Genome-wide association studies of plasma lipids: have we reached the limit? , 2010, Arteriosclerosis, thrombosis, and vascular biology.

[17]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

[18]  H. Pang,et al.  The interaction between aggrecan gene VNTR polymorphism and cigarette smoking in predicting incident symptomatic intervertebral disc degeneration , 2010, Connective tissue research.

[19]  Sang-Hun Lee,et al.  Association of Interleukin-1 Receptor Antagonist Gene Polymorphism With Response to Conservative Treatment of Lumbar Herniated Nucleus Pulposus , 2010, Spine.

[20]  P. Lapunzina,et al.  Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. , 2010, American journal of human genetics.

[21]  P. Byers,et al.  Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. , 2010, American journal of human genetics.

[22]  K. Ozaki,et al.  Association of the Tag SNPs in the Human SKT Gene (KIAA1217) With Lumbar Disc Herniation , 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[23]  N. Boos,et al.  Matrix metalloproteinase expression levels suggest distinct enzyme roles during lumbar disc herniation and degeneration , 2009, European Spine Journal.

[24]  Jaro Karppinen,et al.  Prevalence and Pattern of Lumbar Magnetic Resonance Imaging Changes in a Population Study of One Thousand Forty-Three Individuals , 2009, Spine.

[25]  J. Todd,et al.  Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes , 2009, Science.

[26]  C. L. Murphy,et al.  The identification of differentially expressed microRNA in osteoarthritic tissue that modulate the production of TNF-alpha and MMP13. , 2009, Osteoarthritis and cartilage.

[27]  Yin-gang Zhang,et al.  Association between the -1562 C/T Polymorphism of Matrix Metalloproteinase-9 Gene and Lumbar Disc Disease in the Young Adult Population in North China , 2009, Connective tissue research.

[28]  Thomas W. Mühleisen,et al.  Large recurrent microdeletions associated with schizophrenia , 2008, Nature.

[29]  Toshihiro Tanaka,et al.  A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation. , 2008, American journal of human genetics.

[30]  P. Sham,et al.  Association between promoter -1607 polymorphism of MMP1 and Lumbar Disc Disease in Southern Chinese , 2008, BMC Medical Genetics.

[31]  W. G. Hill,et al.  Heritability in the genomics era — concepts and misconceptions , 2008, Nature Reviews Genetics.

[32]  P. Sham,et al.  Association of the asporin D14 allele with lumbar-disc degeneration in Asians. , 2008, American journal of human genetics.

[33]  Siobhan M. Dolan,et al.  Assessment of cumulative evidence on genetic associations: interim guidelines. , 2008, International journal of epidemiology.

[34]  Toshihiro Tanaka,et al.  A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. , 2007, American journal of human genetics.

[35]  Yan-song Wang,et al.  Association between the -1306C/T polymorphism of matrix metalloproteinase-2 gene and lumbar disc disease in Chinese young adults , 2007, European Spine Journal.

[36]  L. Ala‐Kokko,et al.  Association Between the Aggrecan Gene Variable Number of Tandem Repeats Polymorphism and Intervertebral Disc Degeneration , 2007, Spine.

[37]  Yusuke Nakamura,et al.  A functional polymorphism in the 5′ UTR of GDF5 is associated with susceptibility to osteoarthritis , 2007, Nature Genetics.

[38]  P. Sham,et al.  Association of the Taq I Allele in Vitamin D Receptor With Degenerative Disc Disease and Disc Bulge in a Chinese Population , 2006, Spine.

[39]  A. Borthakur,et al.  In vivo quantification of human lumbar disc degeneration using T1ρ-weighted magnetic resonance imaging , 2006, European Spine Journal.

[40]  P. Sham,et al.  The TRP2 Allele of COL9A2 is an Age-Dependent Risk Factor for the Development and Severity of Intervertebral Disc Degeneration , 2005, Spine.

[41]  S. Garantziotis,et al.  Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits , 2005, Journal of Medical Genetics.

[42]  Yusuke Nakamura,et al.  A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease , 2005, Nature Genetics.

[43]  C. Chatzis,et al.  The Role of Collagen IX Tryptophan Polymorphisms in Symptomatic Intervertebral Disc Disease in Southern European Patients , 2004, Spine.

[44]  Toshihiro Tanaka.  The International HapMap Project , 2003, Nature.

[45]  A. Uitterlinden,et al.  Collagen type I α1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women , 2003 .

[46]  T. Spector,et al.  Risk factors for progression of lumbar spine disc degeneration: the Chingford Study. , 2003, Arthritis and rheumatism.

[47]  H. Matsui,et al.  The Association of Lumbar Disc Disease with Vitamin-D Receptor Gene Polymorphism , 2002, The Journal of bone and joint surgery. American volume.

[48]  C. Pfirrmann,et al.  Magnetic Resonance Classification of Lumbar Intervertebral Disc Degeneration , 2001, Spine.

[49]  H. Haro,et al.  The association of degeneration of the intervertebral disc with 5a/6a polymorphism in the promoter of the human matrix metalloproteinase-3 gene. , 2001, The Journal of bone and joint surgery. British volume.

[50]  J. Ott,et al.  Identification of a novel common genetic risk factor for lumbar disk disease. , 2001, JAMA.

[51]  R. Nicholls.  The impact of genomic imprinting for neurobehavioral and developmental disorders. , 2000, The Journal of clinical investigation.

[52]  J. Ott,et al.  An allele of COL9A2 associated with intervertebral disc disease. , 1999, Science.

[53]  F. Luyten,et al.  Mechanisms of GDF-5 action during skeletal development. , 1999, Development.

[54]  T. Spector,et al.  Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins. , 1999, Arthritis and rheumatism.

[55]  L. Peltonen,et al.  1998 Volvo Award Winner in Basic Science Studies: Intragenic Polymorphisms of the Vitamin D Receptor Gene Associated With Intervertebral Disc Degeneration , 1998, Spine.

[56]  C. Coureau,et al.  Abnormal Sulfate Metabolism in Vitamin D-deficient Rats Abnormal Sulfate Metabolism in Vitamin D–deficient Rats Words: Vitamin D Deficiency @bullet Na-so 4 Cotransporter @bullet Sul- Fate Homeostasis @bullet Parathyroid Hormone , 2022 .

[57]  S. Coulter,et al.  A Human-specific Polymorphism in the Coding Region of the Aggrecan Gene , 1997, The Journal of Biological Chemistry.

[58]  S. Grant,et al.  Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α 1 gene , 1996, Nature Genetics.

[59]  M. Battié,et al.  Determinants of Lumbar Disc Degeneration: A Study Relating Lifetime Exposures and Magnetic Resonance Imaging Findings in Identical Twins , 1995, Spine.

[60]  D. Haynor,et al.  Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. , 1995, The Journal of bone and joint surgery. American volume.

[61]  D. Altman,et al.  Multiple significance tests: the Bonferroni method , 1995, BMJ.

[62]  T Videman,et al.  Digital assessment of MRI for lumbar disc desiccation. A comparison of digital versus subjective assessments and digital intensity profiles versus discogram and macroanatomic findings. , 1994, Spine.

[63]  H. Matsui,et al.  Familial Predisposition and Clustering for Juvenile Lumbar Disc Herniation , 1992, Spine.

[64]  B. Flannigan,et al.  Magnetic Resonance Imaging in the Diagnosis of Disc Degeneration: Correlation with Discography , 1987, Spine.

[65]  F. Sanger,et al.  DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[66]  W. Gilbert,et al.  A new method for sequencing DNA. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[67]  J. Kellgren,et al.  Radiological Assessment of Osteo-Arthrosis , 1957, Annals of the rheumatic diseases.

[68]  Juan Lin,et al.  Interleukin-10 promoter polymorphisms associated with susceptibility to lumbar disc degeneration in a Chinese cohort. , 2011, Genetics and molecular research : GMR.

[69]  N. Kim,et al.  The association of aggrecan gene polymorphism with the risk of intervertebral disc degeneration , 2010, Acta Neurochirurgica.

[70]  Michael J Meaney,et al.  Epigenetics and the biological definition of gene x environment interactions. , 2010, Child development.

[71]  J. Kelsey,et al.  Familial predisposition for herniation of a lumbar disc in patients who are less than twenty-one years old. , 1991, The Journal of bone and joint surgery. American volume.