|
Osteoporosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The microarray data from the Gene Expression Omnibus database accession number GSE51686, were downloaded and used to identify differentially expressed genes (DEGs) in fracture callus tissue samples obtained from the femora of type I collagen (Col1a1)‑kringle containing transmembrane protein 2 (Krm2) mice and low density lipoprotein receptor‑related protein 5‑/‑ (Lrp5‑/‑) transgenic mice of osteoporosis compared with those in wild‑type (WT) mice.
|
28487939 |
2017 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
COL1A1 gene -1997G/T polymorphism and risk of osteoporosis in postmenopausal women: a meta-analysis.
|
26400328 |
2015 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This population-based study indicates that COL1A1 Sp1 polymorphism may contribute to the development of osteoporosis in combination of osteoporosis risk factors in Turkish postmenopausal women.
|
24566004 |
2014 |
|
Osteoporosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The expression pattern of IL17RC, COL1A1, and ESR1 can be useful in osteoporosis detection, which may help in identifying those populations at high risk for osteoporosis, and in directing treatment of osteoporosis.
|
23731710 |
2013 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the combined genotype analysis, ER1/CALCR TCCC combined genotype was estimated to have protective effect against osteoporosis [p=0.0125, OR=0.323, 95% CI (0.1383-0.755)] whereas BGLAP/Col1A1 CCTT and ER1/CALCR CCTT combined genotypes were estimated as risk factors for osteoporosis in Turkish population (p=0.027, p=0.009 respectively).
|
23137636 |
2013 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to investigate the association between Collagen 1 alpha 1 (COL1A1) polymorphism and osteoporosis in DEXA verified 349 (145 osteoporotic, 87 osteopenic and 117 normal) postmenopausal women of India, who were not taking hormone replacement therapy.
|
22057139 |
2013 |
|
Osteoporosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In comparison to age-matched controls we detected profound changes in the transcriptome in hMSC-OP, e.g. enhanced mRNA expression of known osteoporosis-associated genes (LRP5, RUNX2, COL1A1) and of genes involved in osteoclastogenesis (CSF1, PTH1R), but most notably of genes coding for inhibitors of WNT and BMP signaling, such as Sclerostin and MAB21L2.
|
23028809 |
2012 |
|
Osteoporosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Little of the underlying disease etiology has been elucidated thus far, although several studies have suggested that COL1A1 may play a role based on its importance in bone metabolism and other diseases like osteoporosis and osteogenesis imperfecta.
|
22489040 |
2012 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in the 5' flank of COL1A1 gene have been implicated as genetic markers for susceptibility to osteoporosis, but previous studies have yielded conflicting results.
|
20798928 |
2011 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The Sp1 binding site polymorphism in collagen type I alpha 1 gene (COLIA1) has been associated with osteoporosis (OP) and bone mineral density (BMD).
|
20146006 |
2011 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Collagen type I alpha 1 (COL1a1), which encodes the primary subunit of type I collagen, the main structural and most abundant protein in vertebrates, harbors hundreds of mutations linked to human diseases like osteoporosis and osteogenesis imperfecta.
|
20724381 |
2011 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A G→T polymorphism in the regulatory region of the collagen type I alpha 1 (COLIAI) gene at a recognition site for transcription factor Sp1 has been strongly associated with osteoporosis.
|
21178584 |
2011 |
|
Osteoporosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This is consistent with a model whereby increased COL1A1 transcription predisposes to osteoporosis, probably by increasing production of the alpha 1 chain and disrupting the normal ratio of collagen type 1 alpha 1 and alpha 2 chains.
|
19429913 |
2009 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
[Collagen type I gene polymorphism in children and young adults with neoplastic disease].
|
18634290 |
2008 |
|
Osteoporosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Type I collagen is the most abundant protein of bone matrix, and the collagen type I alpha 1(COLIA1) gene has been considered one of the most important candidate genes for osteoporosis.
|
15570401 |
2005 |
|
Osteoporosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The results obtained until now can be divided into three sections: (1) genetic analysis of bone mass/size/geometry characteristics (OP) and traits related to hand OA; (2) pedigree-based investigation of circulating levels of calciotropic hormones, growth factors, cytokines, and biochemical indices of bone and cartilage remodelling; (3) linkage and linkage disequilibrium study of several candidate genes, such as estrogen receptor alpha, collagen type I alpha 1, genes related to extracellular inorganic pyrophosphate transport and OP/OA phenotypes, including biochemical variables.
|
15621207 |
2005 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Some cases of otosclerosis and osteoporosis could share a functionally significant polymorphism in the Sp1 transcription factor binding site in the first intron of the COL1A1 gene.
|
15241219 |
2004 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrates for the first time that pyrosequencing can be used for rapid identification of the osteoporosis-associated single nucleotide polymorphism (SNP) in the COL1A1 gene.
|
14734826 |
2004 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Some cases of otosclerosis and osteoporosis could share a functionally significant polymorphism in the Sp1 transcription factor binding site in the first intron of the COL1A1 gene.
|
15241219 |
2004 |
|
Osteoporosis
|
0.700 |
Biomarker
|
disease |
LHGDN |
An immunoassay for type I collagen alpha 1 helicoidal peptide 620-633, a new marker of bone resorption in osteoporosis.
|
12584032 |
2003 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Most work in this area of osteoporosis research has focused on the candidate gene approach, which has identified several candidate genes for osteoporosis, including genes encoding the vitamin D receptor (VDR), oestrogen receptors (alpha and beta), apolipoprotein E, collagen type I alpha 1 and methylenetetrahydrofolate reductase, amongst many others.
|
15018490 |
2003 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The collagen type I alpha 1 (COLIA1) gene is a possible risk factor for osteoporosis.
|
12185380 |
2002 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
After adjusting for all other variables, the osteoporosis densitometric criteria variable was the most strongly associated with fracture (OR = 5 [1.8-13.3]) followed by COLIA1 (OR = 2.1 [1-4.3] per copy of the 'T' allele).
|
12107666 |
2002 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
[Analysis of association of Col1a1 gene alleles with the development of osteoporosis].
|
12575457 |
2002 |
|
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the COL1A1 Sp1 polymorphism is a functional genetic variant that predisposes to osteoporosis by complex mechanisms involving changes in bone mass and bone quality.
|
11285309 |
2001 |