|
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
|
GWASCAT |
Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.
|
30664745 |
2019 |
|
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
|
GWASCAT |
Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
|
30374069 |
2018 |
|
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 |
|
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 |
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 |
|
Body Height
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Characterizing rare and low-frequency height-associated variants in the Japanese population.
|
31562340 |
2019 |
|
Height
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common variants in the GDF5-UQCC region are associated with variation in human height.
|
18193045 |
2008 |
|
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 |
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 |
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 |
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 |
BMP-14 rs143383 polymorphism may be a protective factor against OA occurrence.
|
29049177 |
2017 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |