Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs716508
rs716508
0.020 GeneticVariation BEFREE Of the SNPs, rs716508 in A2BP1 was associated with ROA (OR = 0.7, 95% CI 0.5-0.9) and rs1800470 in TGFB1 with symptomatic DIP OA (1.8, 1.2-2.9). 24825461

2014

dbSNP: rs9340799
rs9340799
0.020 GeneticVariation BEFREE We found an interaction between ESR1 (rs9340799) and occupation: teachers with the minor allele were at an increased risk of symptomatic DIP OA (2.8, 1.3-6.5). 24825461

2014

dbSNP: rs77245812
rs77245812
0.020 GeneticVariation BEFREE The T303M polymorphism of the MATN3 gene, which was initially described as associated with hand osteoarthritis, may be more closely linked to trapeziometacarpal osteoarthritis than to digital osteoarthritis. 20971668

2011

dbSNP: rs716508
rs716508
0.020 GeneticVariation BEFREE Five single-nucleotide polymorphisms (SNPs) had a likelihood of association with hand OA in the discovery stage and one of them (rs716508), was successfully confirmed in the replication stage (meta-analysis p = 1.81x10(-5)). 19508968

2009

dbSNP: rs9340799
rs9340799
0.020 GeneticVariation BEFREE We found no significant association between our OA phenotypes or generalized or severe generalized OA as defined by Ushiyama and heterozygosity for rs2234693 and rs9340799, although in metaanalysis with the former study this heterozygosity remained significantly associated with generalized or severe generalized OA. 19884274

2009

dbSNP: rs77245812
rs77245812
0.020 GeneticVariation BEFREE The originally described association of T303M with the hand osteoarthritis phenotype was not observed in the populations studied. 16396979

2006

dbSNP: rs187084
rs187084
0.010 GeneticVariation BEFREE The results indicated that the A allele of rs187084 is a risk allele for HOA and is likely to be a predisposing factor leading to an increased risk of HOA (adjusted odds ratio with age, gender, and BMI = 1.26, 95% confidence interval = 1.10-1.43). 31066581

2019

dbSNP: rs11096957
rs11096957
0.010 GeneticVariation BEFREE Two significant SNPs, rs11096957 (OR = 1.26, P = 1.35 × 10<sup>-5</sup>) and rs2273650 (OR = 1.2, P = 1.57 × 10<sup>-3</sup>), were significantly associated with HOA risk. 29980729

2018

dbSNP: rs2273650
rs2273650
0.010 GeneticVariation BEFREE Two significant SNPs, rs11096957 (OR = 1.26, P = 1.35 × 10<sup>-5</sup>) and rs2273650 (OR = 1.2, P = 1.57 × 10<sup>-3</sup>), were significantly associated with HOA risk. 29980729

2018

dbSNP: rs781754383
rs781754383
EGF
0.010 GeneticVariation BEFREE We transfected these contructs into the COS-1 or MCT cells, and the results revealed that the HOA-related matrilin-3 mutation (T298M) leads to a high expression level of growth arrest DNA damage-inducible gene 153 (GADD153, also known as CHOP; an endoplasmic reticulum stress marker), as shown by western blot analysis and does not significantly affect protein secretion, as shown by immunofluorescence staining; however, osteochondroplasia, i.e., MED-related (R116W) and SEMD-related (C299S) mutations lead to both high levels of GADD153 expression and protein trafficking into the cytoplasm and form multiple vacuoles in cells, which in turn leads to insufficient protein secretion. 26499313

2015

dbSNP: rs788748
rs788748
0.010 GeneticVariation BEFREE The A allele of rs788748, located 65 kb upstream of the IGFBP3 gene, was associated with lower HOA odds at the genome-wide significance level in the discovery stage (OR 0.71, p=2×10(-8)). 24928840

2015

dbSNP: rs179945
rs179945
0.010 GeneticVariation BEFREE There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the carriage of the minor allele of either of these SNPs was associated with an increased risk of symptomatic DIP OA (2.1, 1.3-2.5). 24825461

2014

dbSNP: rs1800470
rs1800470
0.010 GeneticVariation BEFREE Of the SNPs, rs716508 in A2BP1 was associated with ROA (OR = 0.7, 95% CI 0.5-0.9) and rs1800470 in TGFB1 with symptomatic DIP OA (1.8, 1.2-2.9). 24825461

2014

dbSNP: rs1805013
rs1805013
0.010 GeneticVariation BEFREE As far as the non-erosive hand OA group (n=159) is concerned, the significance level of association of SNP rs1805013 is increased. 20219689

2010

dbSNP: rs2243250
rs2243250
IL4
0.010 GeneticVariation BEFREE With respect to the CMC1 OA group, two SNPs in IL-4 (rs2243250 and rs2243274) showed association with a P-value of 0.027 and 0.018 respectively. 20219689

2010

dbSNP: rs2243274
rs2243274
0.010 GeneticVariation BEFREE With respect to the CMC1 OA group, two SNPs in IL-4 (rs2243250 and rs2243274) showed association with a P-value of 0.027 and 0.018 respectively. 20219689

2010

dbSNP: rs2234693
rs2234693
0.010 GeneticVariation BEFREE We found no significant association between our OA phenotypes or generalized or severe generalized OA as defined by Ushiyama and heterozygosity for rs2234693 and rs9340799, although in metaanalysis with the former study this heterozygosity remained significantly associated with generalized or severe generalized OA. 19884274

2009

dbSNP: rs12885713
rs12885713
0.010 GeneticVariation BEFREE A functional core promoter single nucleotide polymorphism (SNP) -16C/T (rs12885713) was recently associated with hip OA (HOA) in the Japanese population, while no association was found in a British group of patients with HOA. 18452398

2008

dbSNP: rs752149020
rs752149020
0.010 GeneticVariation BEFREE A functional core promoter single nucleotide polymorphism (SNP) -16C/T (rs12885713) was recently associated with hip OA (HOA) in the Japanese population, while no association was found in a British group of patients with HOA. 18452398

2008

dbSNP: rs1508632
rs1508632
0.010 GeneticVariation BEFREE SNP rs1508632 lies in immediate proximity to the TINAG gene, implicating it as a possible hand osteoarthritis susceptibility gene. 17985653

2007

dbSNP: rs1799945
rs1799945
0.010 GeneticVariation BEFREE The HFE H63D variant may explain, at least in part, the prevalence of arthralgia in multiple joints sites, chondrocalcinosis, and hand osteoarthritis in the general population. 17284543

2007

dbSNP: rs2242190
rs2242190
0.010 GeneticVariation BEFREE To investigate SNP5 and two other promising polymorphisms (rs2242190; SNP3, rs8176070; SNP6) for association with radiographic and symptomatic hand osteoarthritis phenotypes, as well as other heritable phenotypes. 16396979

2006

dbSNP: rs8176070
rs8176070
0.010 GeneticVariation BEFREE To investigate SNP5 and two other promising polymorphisms (rs2242190; SNP3, rs8176070; SNP6) for association with radiographic and symptomatic hand osteoarthritis phenotypes, as well as other heritable phenotypes. 16396979

2006

dbSNP: rs1800562
rs1800562
0.010 GeneticVariation BEFREE Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis. 12508400

2003