rs143383, GDF5

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Degenerative polyarthritis
CUI: C0029408
Disease: 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
Degenerative polyarthritis
CUI: C0029408
Disease: 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
CUI: C0029408
Disease: 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
CUI: C0029408
Disease: Degenerative polyarthritis
0.100 GeneticVariation BEFREE GDF5 is involved in synovial joint development, maintenance and repair, and the rs143383 C/T single nucleotide polymorphism (SNP) located in the 5'UTR of GDF5 is associated, at the genome-wide significance level, with osteoarthritis susceptibility, and with other musculoskeletal phenotypes including height, congenital hip dysplasia and Achilles tendinopathy. 21642387 2011
Degenerative polyarthritis
CUI: C0029408
Disease: 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
CUI: C0029408
Disease: Degenerative polyarthritis
0.100 GeneticVariation BEFREE Evidence of an association between the GDF5 rs143383 polymorphism and OA is substantially strong, but the genetic effects are consistent across different populations only for knee OA. 19479880 2009
Congenital Dysplasia Of The Hip
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
0.040 GeneticVariation BEFREE GDF5 is involved in synovial joint development, maintenance and repair, and the rs143383 C/T single nucleotide polymorphism (SNP) located in the 5'UTR of GDF5 is associated, at the genome-wide significance level, with osteoarthritis susceptibility, and with other musculoskeletal phenotypes including height, congenital hip dysplasia and Achilles tendinopathy. 21642387 2011
Osteoarthritis of hip
CUI: C0029410
Disease: Osteoarthritis of hip
0.040 GeneticVariation BEFREE An association between LDD and the SNP rs143383 was identified in women, with the same risk allele as in knee and hip OA (odds ratio 1.72 [95% confidence interval 1.15-2.57], P = 0.008). 21360499 2011
Congenital Dysplasia Of The Hip
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
0.040 GeneticVariation BEFREE We genotyped three tagSNPs (rs224334, rs143384, rs143383) in 239 cases and 239 controls from western Brittany (France) where CDH is frequent, and tested the association using both single-locus and haplotype-based approaches. 20633687 2010
Osteoarthritis of hip
CUI: C0029410
Disease: Osteoarthritis of hip
0.040 GeneticVariation BEFREE For rs143383, the total number of cases and controls, respectively, was 5,789 and 7,850 for hip OA, 5,085 and 8,135 for knee OA, and 4,040 and 4,792 for hand OA. 19479880 2009
Congenital Dysplasia Of The Hip
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
0.040 GeneticVariation BEFREE Our study shows that there exists a relationship between GDF5 (SNP rs143383) and DDH in our population. 29797005 2018
Osteoarthritis of hip
CUI: C0029410
Disease: Osteoarthritis of hip
0.040 GeneticVariation BEFREE A SNP in the 5' UTR of GDF5 (+104T/C; rs143383) showed significant association (P = 1.8 x 10(-13)) with hip osteoarthritis in two independent Japanese populations. 17384641 2007
Congenital Dysplasia Of The Hip
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
0.040 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 of hip
CUI: C0029410
Disease: Osteoarthritis of hip
0.040 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
Degeneration of lumbar intervertebral disc
0.030 GeneticVariation BEFREE GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women. 21360499 2011
Degeneration of lumbar intervertebral disc
0.030 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
Degeneration of lumbar intervertebral disc
0.030 GeneticVariation BEFREE Association between <i>GDF5</i> single nucleotide polymorphism rs143383 and lumbar disc degeneration. 30186416 2018
Lumbar disc disease
CUI: C0221775
Disease: Lumbar disc disease
0.020 GeneticVariation BEFREE In conclusion, CC mutant type at rs143383 in <i>GDF5</i> gene has a strong association with the incidence of LDD, and a high prevalence risk, but it has no evident correlation with pathological grades. 30186416 2018
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.020 GeneticVariation BEFREE An association between LDD and the SNP rs143383 was identified in women, with the same risk allele as in knee and hip OA (odds ratio 1.72 [95% confidence interval 1.15-2.57], P = 0.008). 21360499 2011
Lumbar disc disease
CUI: C0221775
Disease: Lumbar disc disease
0.020 GeneticVariation BEFREE An association between LDD and the SNP rs143383 was identified in women, with the same risk allele as in knee and hip OA (odds ratio 1.72 [95% confidence interval 1.15-2.57], P = 0.008). 21360499 2011
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.020 GeneticVariation BEFREE In conclusion, CC mutant type at rs143383 in <i>GDF5</i> gene has a strong association with the incidence of LDD, and a high prevalence risk, but it has no evident correlation with pathological grades. 30186416 2018
Prolapsed lumbar disc
CUI: C0281899
Disease: Prolapsed lumbar disc
0.010 GeneticVariation BEFREE The aim of the present study is to assess whether the single nucleotide polymorphism in the GDF5 (+104T/C; rs143383) is associated with the symptomatic lumbar disc herniation in the Chinese Han population and the identification of the mechanisms of its action. 24105021 2014
Diabetes Mellitus, Insulin-Dependent
0.010 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
Intervertebral disc disorder
CUI: C0158252
Disease: Intervertebral disc disorder
0.010 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
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
0.010 GeneticVariation BEFREE We genotyped three tagSNPs (rs224334, rs143384, rs143383) in 239 cases and 239 controls from western Brittany (France) where CDH is frequent, and tested the association using both single-locus and haplotype-based approaches. 20633687 2010