|
rs143383
|
|
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 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
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 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We observed nominally significant associations (P < 0.05) with 3 previously reported OA loci: rs143383 in GDF5 (OR 1.12 [95% CI 1.04-1.21], P = 2.13 × 10<sup>-3</sup> ), rs835487 in CHST11 (OR 0.93 [95% CI 0.85-0.99], P = 0.03), and rs8044769 in FTO (OR 1.10 [95% CI 1.03-1.19], P = 6.13 × 10<sup>-3</sup> ).
|
27696742 |
2017 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A functional single nucleotide polymorphism (SNP) +104T/C in the 5'-UTR of GDF5 (rs143383) was reported to be associated with osteoarthritis susceptibility in Han Chinese and Japanese populations.
|
28886316 |
2017 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The growth differentiation factor 5 gene GDF5 was one of the first reported OA susceptibility signals that showed consistent association to OA, with the transcript single nucleotide polymorphism (SNP) rs143383 demonstrating association in Asians and Europeans.
|
28481944 |
2017 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
BMP-14 rs143383 polymorphism may be a protective factor against OA occurrence.
|
29049177 |
2017 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results demonstrate that SNP rs143383 of GDF5 is a compelling risk factor for both knee and hand OA, and provide further support for GDF5 in the etiology of OA.
|
25894512 |
2015 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383.
|
24861163 |
2014 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A genetic deficit mediated by SNP rs143383 that leads to reduced expression of GDF5 is strongly associated with large-joint osteoarthritis.
|
24466161 |
2014 |
|
rs143383
|
|
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 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, we have identified four trans-acting factors that are binding to GDF5, three of which are modulating GDF5 expression via the OA susceptibility locus rs143383.
|
23825960 |
2013 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The rs143383 polymorphism was significantly associated with OA [fixed: OR and 95% CI: 1.193 (1.139-1.249), p < 0.001; random: OR and 95% CI: 1.204 (1.135-1.276), p < 0.001], 2) no evidence that this association was accounted for by any one study, and 3) no evidence for publication bias.
|
23423687 |
2013 |
|
rs143383
|
|
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 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The derived alleles of rs143384 and rs143383, which are associated with a risk of osteoarthritis and decreased height, have high frequencies in non-Africans and show strong extended haplotype homozygosity and high population differentiation in East Asian.
|
22905146 |
2012 |
|
rs143383
|
|
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 |
|
rs143383
|
|
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 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recently, a functional polymorphism (rs143383) of the 5'-untranslated region of GDF5 (Growth/Differentiation Factor 5) - previously reported to be associated with osteoarthritis - has been associated with CDH in a Chinese population.
|
20633687 |
2010 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In agreement with previous reports, the major allele at rs143383 (GDF5) was associated with a higher risk of knee OA in our samples (OR(MH) = 1.29, 95% CI 1.14 to 1.47 p = 8 x 10(-5)).
|
19054821 |
2009 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
rs143383 and three highly correlated single nucleotide polymorphisms (SNPs) in the GDF5 region were found to be independently associated with OA, height, bone size and fracture risk in women.
|
19029166 |
2009 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Single-nucleotide polymorphism (SNP) rs143383 (T to C) in the 5'-untranslated region (5'-UTR) of GDF5 has recently been reported to be associated with osteoarthritis (OA) susceptibility, with lower expression of the risk-associated T allele observed in vitro and in vivo.
|
19565498 |
2009 |
|
rs143383
|
|
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 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our data implied that the +104T/C; rs143383 GDF5 core promoter polymorphism is not a risk factor for OA etiology in Greek Caucasians.
|
17676627 |
2008 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A functional single nucleotide polymorphism (SNP) in the 5'-untranslated region of GDF5 (rs143383) was reported to be associated with osteoarthritis susceptibility.
|
18947434 |
2008 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
It provides compelling evidence for a positive association between a functional single-nucleotide polymorphism (SNP) in the 5'-UTR of GDF5 (+104T/C; rs143383) and osteoarthritis (OA) in European and Asian populations.
|
18299287 |
2008 |
|
rs143383
|
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A compelling genetic association with osteoarthritis (OA) of a functional SNP (rs143383, T/C) in the 5'-UTR of the GDF5 gene was recently reported in case-control cohorts from Japan and China.
|
17616513 |
2007 |