Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The absence of rare variants informs us that within the regions of the gene that we have sequenced GDF5 does not harbour any novel variants that are able to contribute, at a population level, to the OA association signal mediated by rs143383 nor does it harbour, at a population level, any novel variants that can influence OA susceptibility independent of rs143383.
|
21281725 |
2011 |
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The discovery of a novel variant near the NCOA3 (nuclear receptor coactivator 3) gene associated with hip OA and the regulation of GDF5 gene by four transcription factors via the OA susceptibility locus rs143383 are among important findings in OA genetics.
|
25456297 |
2014 |
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Patients with drinking and Bbody mass index (MI )≥ 24 also showed significant relationship between rs143383 and osteoarthritis (OA) under the following models: TT vs CC (<i>P</i>=0.000, <i>P</i>=0.018), TT/CT vs CC (<i>P</i>=0.043), TT vs CT/CC (<i>P</i>=0.000, <i>P</i>=0.009), and T vs C (<i>P</i>=0.024, <i>P</i>=0.000).
|
30777926 |
2019 |
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
GDF5 is involved in synovial joint development, maintenance and repair, and the rs143383 C/T single nucleotide polymorphism (SNP) located in the 5'UTR of GDF5 is associated, at the genome-wide significance level, with osteoarthritis susceptibility, and with other musculoskeletal phenotypes including height, congenital hip dysplasia and Achilles tendinopathy.
|
21642387 |
2011 |
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
As GDF5 codes for a cartilage anabolic protein, this reduced expression may explain why the T-allele of rs143383 is an OA risk factor.
|
22929025 |
2013 |
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Evidence of an association between the GDF5 rs143383 polymorphism and OA is substantially strong, but the genetic effects are consistent across different populations only for knee OA.
|
19479880 |
2009 |
Congenital Dysplasia Of The Hip
|
|
0.040 |
GeneticVariation
|
BEFREE |
GDF5 is involved in synovial joint development, maintenance and repair, and the rs143383 C/T single nucleotide polymorphism (SNP) located in the 5'UTR of GDF5 is associated, at the genome-wide significance level, with osteoarthritis susceptibility, and with other musculoskeletal phenotypes including height, congenital hip dysplasia and Achilles tendinopathy.
|
21642387 |
2011 |
Osteoarthritis of hip
|
|
0.040 |
GeneticVariation
|
BEFREE |
An association between LDD and the SNP rs143383 was identified in women, with the same risk allele as in knee and hip OA (odds ratio 1.72 [95% confidence interval 1.15-2.57], P = 0.008).
|
21360499 |
2011 |
Congenital Dysplasia Of The Hip
|
|
0.040 |
GeneticVariation
|
BEFREE |
We genotyped three tagSNPs (rs224334, rs143384, rs143383) in 239 cases and 239 controls from western Brittany (France) where CDH is frequent, and tested the association using both single-locus and haplotype-based approaches.
|
20633687 |
2010 |
Osteoarthritis of hip
|
|
0.040 |
GeneticVariation
|
BEFREE |
For rs143383, the total number of cases and controls, respectively, was 5,789 and 7,850 for hip OA, 5,085 and 8,135 for knee OA, and 4,040 and 4,792 for hand OA.
|
19479880 |
2009 |
Congenital Dysplasia Of The Hip
|
|
0.040 |
GeneticVariation
|
BEFREE |
Our study shows that there exists a relationship between GDF5 (SNP rs143383) and DDH in our population.
|
29797005 |
2018 |
Osteoarthritis of hip
|
|
0.040 |
GeneticVariation
|
BEFREE |
A SNP in the 5' UTR of GDF5 (+104T/C; rs143383) showed significant association (P = 1.8 x 10(-13)) with hip osteoarthritis in two independent Japanese populations.
|
17384641 |
2007 |
Congenital Dysplasia Of The Hip
|
|
0.040 |
GeneticVariation
|
BEFREE |
That has proven to be the case for the GDF5 polymorphism rs143383, a risk factor for knee osteoarthritis and several other common conditions, including lumbar-disc degeneration and developmental dysplasia of the hip.
|
21542882 |
2011 |
Osteoarthritis of hip
|
|
0.040 |
GeneticVariation
|
BEFREE |
The discovery of a novel variant near the NCOA3 (nuclear receptor coactivator 3) gene associated with hip OA and the regulation of GDF5 gene by four transcription factors via the OA susceptibility locus rs143383 are among important findings in OA genetics.
|
25456297 |
2014 |
Degeneration of lumbar intervertebral disc
|
|
0.030 |
GeneticVariation
|
BEFREE |
GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women.
|
21360499 |
2011 |
Degeneration of lumbar intervertebral disc
|
|
0.030 |
GeneticVariation
|
BEFREE |
That has proven to be the case for the GDF5 polymorphism rs143383, a risk factor for knee osteoarthritis and several other common conditions, including lumbar-disc degeneration and developmental dysplasia of the hip.
|
21542882 |
2011 |
Degeneration of lumbar intervertebral disc
|
|
0.030 |
GeneticVariation
|
BEFREE |
Association between <i>GDF5</i> single nucleotide polymorphism rs143383 and lumbar disc degeneration.
|
30186416 |
2018 |
Lumbar disc disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
In conclusion, CC mutant type at rs143383 in <i>GDF5</i> gene has a strong association with the incidence of LDD, and a high prevalence risk, but it has no evident correlation with pathological grades.
|
30186416 |
2018 |
Lhermitte-Duclos disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
An association between LDD and the SNP rs143383 was identified in women, with the same risk allele as in knee and hip OA (odds ratio 1.72 [95% confidence interval 1.15-2.57], P = 0.008).
|
21360499 |
2011 |
Lumbar disc disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
An association between LDD and the SNP rs143383 was identified in women, with the same risk allele as in knee and hip OA (odds ratio 1.72 [95% confidence interval 1.15-2.57], P = 0.008).
|
21360499 |
2011 |
Lhermitte-Duclos disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
In conclusion, CC mutant type at rs143383 in <i>GDF5</i> gene has a strong association with the incidence of LDD, and a high prevalence risk, but it has no evident correlation with pathological grades.
|
30186416 |
2018 |
Prolapsed lumbar disc
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of the present study is to assess whether the single nucleotide polymorphism in the GDF5 (+104T/C; rs143383) is associated with the symptomatic lumbar disc herniation in the Chinese Han population and the identification of the mechanisms of its action.
|
24105021 |
2014 |
Diabetes Mellitus, Insulin-Dependent
|
|
0.010 |
GeneticVariation
|
BEFREE |
Stratified analyses based on disease type showed a significant association between the GDF5 rs143383 polymorphism and increased risk of IDD and OA under all genetic models studied.
|
30217184 |
2018 |
Intervertebral disc disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
Stratified analyses based on disease type showed a significant association between the GDF5 rs143383 polymorphism and increased risk of IDD and OA under all genetic models studied.
|
30217184 |
2018 |
Congenital diaphragmatic hernia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We genotyped three tagSNPs (rs224334, rs143384, rs143383) in 239 cases and 239 controls from western Brittany (France) where CDH is frequent, and tested the association using both single-locus and haplotype-based approaches.
|
20633687 |
2010 |