|
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 |
|
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
|
|
G |
0.810 |
GeneticVariation |
GWASCAT |
Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.
|
22566624 |
2012 |
|
rs12982744
|
|
G |
0.810 |
GeneticVariation |
GWASDB |
Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.
|
22566624 |
2012 |
|
rs11842874
|
|
A |
0.810 |
GeneticVariation |
GWASCAT |
Through large-scale replication, we establish a robust association with SNPs in MCF2L (rs11842874, combined odds ratio [95% confidence interval] 1.17 [1.11-1.23], p = 2.1 × 10(-8)) across a total of 19,041 OA cases and 24,504 controls of European descent.
|
21871595 |
2011 |
|
rs11842874
|
|
A |
0.810 |
GeneticVariation |
GWASDB |
Through large-scale replication, we establish a robust association with SNPs in MCF2L (rs11842874, combined odds ratio [95% confidence interval] 1.17 [1.11-1.23], p = 2.1 × 10(-8)) across a total of 19,041 OA cases and 24,504 controls of European descent.
|
21871595 |
2011 |
|
rs4730250
|
|
G |
0.810 |
GeneticVariation |
GWASDB |
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 |
|
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 |
|
rs4730250
|
|
G |
0.810 |
GeneticVariation |
GWASCAT |
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 |
|
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 |
|
rs3815148
|
|
C |
0.810 |
GeneticVariation |
GWASCAT |
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 |
|
rs3815148
|
|
C |
0.810 |
GeneticVariation |
GWASDB |
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 |
|
rs10948172
|
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
|
22763110 |
2012 |
|
rs10948172
|
|
G |
0.800 |
GeneticVariation |
GWASDB |
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
|
22763110 |
2012 |
|
rs11177
|
|
A |
0.800 |
GeneticVariation |
GWASDB |
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
|
22763110 |
2012 |
|
rs11177
|
|
A |
0.800 |
GeneticVariation |
GWASCAT |
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
|
22763110 |
2012 |
|
rs1417066
|
|
G |
0.800 |
GeneticVariation |
GWASDB |
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
|
22763110 |
2012 |
|
rs1417066
|
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
|
22763110 |
2012 |
|
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 |
|
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
|
|
A |
0.720 |
GeneticVariation |
GWASCAT |
A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
|
23989986 |
2014 |
|
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 |
|
rs532464664
|
|
CGCGCGCC |
0.710 |
GeneticVariation |
GWASCAT |
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 |
|
rs10492367
|
|
|
0.710 |
GeneticVariation |
GWASDB |
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
|
22763110 |
2012 |