|
Osteoarthritis, Knee
|
|
0.760 |
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, Knee
|
|
0.760 |
GeneticVariation
|
BEFREE |
The TT genotype of the SNP rs143383 increases the susceptibility to KOA in the population of northern Mexico, according to the recessive segregation model.
|
30044130 |
2018 |
|
Osteoarthritis, Knee
|
|
0.760 |
GeneticVariation
|
BEFREE |
Two thousand four hundred and sixty-two subjects aged 50 years and older were assessed for OA at the knee, were genotyped with two SNPs (GDF5; rs143383 and ADAM12; rs3740199).
|
22284607 |
2012 |
|
Osteoarthritis, Knee
|
|
0.760 |
GeneticVariation
|
BEFREE |
Our results revealed a possible genetic association between GDF5 and KOA, and the TT genotype of rs143383 increased the risk of KOA in Chinese Han population.
|
30777926 |
2019 |
|
Osteoarthritis, Knee
|
|
0.760 |
GeneticVariation
|
BEFREE |
This data suggest that the differential methylation of the +37 CpG site between osteoarthritic hip and knee cartilage may be responsible for the knee-specific effect of rs143383 on OA susceptibility.
|
24861163 |
2014 |
|
Osteoarthritis, Knee
|
|
0.760 |
GeneticVariation
|
BEFREE |
Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects.
|
25467786 |
2014 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Degenerative polyarthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
BMP-14 rs143383 polymorphism may be a protective factor against OA occurrence.
|
29049177 |
2017 |
|
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 |
|
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 |
|
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 |