|
rs11842874
|
|
|
0.810 |
GeneticVariation |
BEFREE |
One of the reported OA association signals is marked by the single nucleotide polymorphism (SNP) rs11842874 at chromosome 13q34. rs11842874 is positioned within a small linkage disequilibrium (LD) block within intron 4 of MCF2L, a gene encoding guanine-nucleotide exchange factor DBS.
|
26584642 |
2015 |
|
rs12982744
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The DOT1L rs12982744 OA risk allele was associated with reduced superior joint space in the subregional shape model (P = 2 × 10<sup>-3</sup> ).
|
29882636 |
2018 |
|
rs3815148
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The C allele of rs3815148 on chromosome 7q22 (minor allele frequency 23%; intron 12 of the COG5 gene) was associated with a 1.14-fold increased risk (95% confidence interval 1.09-1.19) of knee and/or hand OA (P = 8 x 10(-8)) and also with a 30% increased risk of knee OA progression (95% confidence interval 1.03-1.64) (P = 0.03).
|
20112360 |
2010 |
|
rs4730250
|
|
|
0.810 |
GeneticVariation |
BEFREE |
With a cumulative sample size of 6709 cases and 44 439 controls, one genome-wide significant locus was identified on chromosome 7q22 for knee OA (rs4730250, p=9.2 × 10⁻⁹), thereby confirming its role as a susceptibility locus for OA.
|
21068099 |
2011 |
|
rs6094710
|
|
|
0.720 |
GeneticVariation |
BEFREE |
To functionally characterize the osteoarthritis (OA) susceptibility variants that map to a region of high linkage disequilibrium (LD) on chromosome 20q13 marked by the single-nucleotide polymorphism (SNP) rs6094710 and encompassing NCOA3 and SULF2.
|
26211391 |
2015 |
|
rs6094710
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The expression and DNA methylation of NCOA3 in knee OA cartilage and in vitro dedifferentiated chondrocytes with or without rs6094710 SNP were analyzed by qRT-PCR, immunoblotting, methylation-specific PCR and bisulfite sequencing.
|
30261507 |
2018 |
|
rs10492367
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The KLHDC5/PTHLH rs10492367 OA risk allele was associated with a wider upper femur in the whole shape model (P = 1 × 10<sup>-5</sup> ).
|
29882636 |
2018 |
|
rs532464664
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P = 4.0 × 10<sup>-12</sup>, odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs*106), in the CHADL gene that associates through a recessive mode of inheritance (homozygote frequency = 0.15%, P = 4.5 × 10<sup>-18</sup>, OR = 7.71).
|
28319091 |
2017 |
|
rs143383
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |
|
rs143383
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BMP-14 rs143383 polymorphism may be a protective factor against OA occurrence.
|
29049177 |
2017 |
|
rs143383
|
|
|
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 |