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相關基因
COL1A1
位點：RS1800012
CILP
位點：RS2073711
MMP3
位點：RS591058
位點：RS679620
Posthumus M, et al. Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant. 2009
Rojano-Mejía D, et al. JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women. 2013
Urreizti R, et al. COL1A1 haplotypes and hip fracture. 2012
Dvornyk V, et al. Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis. 2004
Long JR, et al. Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes. 2004
Stewart TL, et al. Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women. 2006
Jiang H, et al. Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families. 2007
Kiel DP, et al. Genome-wide association with bone mass and geometry in the Framingham Heart Study. 2007
Posthumus M, et al. Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. 2009
Tranah GJ, et al. Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures. 2008
Jin H, et al. A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture. 2009
Cross DS, et al. Development of a fingerprinting panel using medically relevant polymorphisms. 2009
Richards JB, et al. Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. 2009
te Winkel ML, et al. Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia. 2010
Jin H, et al. Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies. 2011
Zintzaras E, et al. Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system. 2011
Katz J, et al. Genetic polymorphisms and other risk factors associated with bisphosphonate induced osteonecrosis of the jaw. 2011
Singh M, et al. A haplotype derived from the common variants at the -1997G/T and Sp1 binding site of the COL1A1 gene influences risk of postmenopausal osteoporosis in India. 2013
Zintzaras E, et al. Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): the CUMAGAS-BMD information system. 2011
Seki S, et al. A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. 2005
Background[edit]
Kelempisioti A, et al. Genetic susceptibility of intervertebral disc degeneration among young Finnish adults. 2011
Battié MC, et al. Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. 1995
Studies[edit]
Shehab SS, et al. Anti-goldfish glial fibrillary acidic protein (GFAP) recognises astrocytes from rat CNS. 1989
Seki S, et al. A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. 2005
Shehab SS, et al. Anti-goldfish glial fibrillary acidic protein (GFAP) recognises astrocytes from rat CNS. 1989
Min SK, et al. The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas. 2009
Kelempisioti A, et al. Genetic susceptibility of intervertebral disc degeneration among young Finnish adults. 2011
Kelempisioti A, et al. Genetic susceptibility of intervertebral disc degeneration among young Finnish adults. 2011
Summary[edit]
References[edit]
Battié MC, et al. Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. 1995
Jinoian V, et al. [Inlays--onlays--facets. Possibilities with ceramic technic]. 1987
Kelempisioti A, et al. Genetic susceptibility of intervertebral disc degeneration among young Finnish adults. 2011
Matsui H, et al. Familial predisposition for lumbar degenerative disc disease. A case-control study. 1998
Min SK, et al. The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas. 2009
Seki S, et al. A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. 2005
Virtanen IM, et al. Phenotypic and population differences in the association between CILP and lumbar disc disease. 2007
Raleigh SM, et al. Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. 2009
Taylor J, et al. Interactions between metallopeptidase 3 polymorphism rs679620 and BMI in predicting blood pressure in African-American women with hypertension. 2008
Raleigh SM, et al. Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. 2009
Chen Y, et al. Influence of variations across the MMP-1 and -3 genes on the serum levels of MMP-1 and -3 and disease activity in rheumatoid arthritis. 2012
Shibata N, et al. Genetic association between matrix metalloproteinase MMP-9 and MMP-3 polymorphisms and Japanese sporadic Alzheimer's disease. 2005
Cheong JY, et al. Matrix metalloproteinase-3 genotypes influence recovery from hepatitis B virus infection. 2008
Skibola CF, et al. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. 2008
Cole JW, et al. Ischemic stroke risk, smoking, and the genetics of inflammation in a biracial population: the stroke prevention in young women study. 2008
Nan H, et al. Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk. 2008
Beeghly-Fadiel A, et al. No association between matrix metalloproteinase-1 or matrix metalloproteinase-3 polymorphisms and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study. 2009
Yoshida T, et al. Association of genetic variants with chronic kidney disease in Japanese individuals. 2009
Beeghly-Fadiel A, et al. No association between matrix metalloproteinase (MMP)-1, MMP-3, and MMP-7 SNPs and endometrial cancer risk. 2009
Taylor JY, et al. Genetic and environmental risks for high blood pressure among African American mothers and daughters. 2009
Ricketts C, et al. Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma. 2009
Matarin M, et al. Candidate gene polymorphisms for ischemic stroke. 2009
Posthumus M, et al. A functional variant within the MMP3 gene does not associate with human range of motion. 2010
Palmer CN, et al. Combined effect of inflammatory gene polymorphisms and the risk of ischemic stroke in a prospective cohort of subjects with type 2 diabetes: a Go-DARTS study. 2010
Posthumus M, et al. Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture. 2012
Kim SK, et al. Matrix metalloproteinase-3 gene polymorphisms are associated with ischemic stroke. 2012
Menezes-Silva R, et al. Genetic susceptibility to periapical disease: conditional contribution of MMP2 and MMP3 genes to the development of periapical lesions and healing response. 2012
Chen Y, et al. Age at onset of rheumatoid arthritis: association with polymorphisms in the vascular endothelial growth factor A(VEGFA) gene and an intergenic locus between matrix metalloproteinase (MMP) 1 and 3 genes. 2012
Ma AJ, et al. [Association of matrix metalloproteinase-3 gene polymorphisms with subtypes of ischemic stroke]. 2013
Taylor JY, et al. Genetic and BMI risks for predicting blood pressure in three generations of West African Dogon women. 2013
Letra A, et al. MMP3 and TIMP1 variants contribute to chronic periodontitis and may be implicated in disease progression. 2012
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