rs61930502
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The minor allele, rs61930502-A, which tended to prevent DDH showed a dominant effect.
|
30511388 |
2019 |
rs1022313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five SNPs rs69306665 (upstream of WISP3), rs1022313 (WISP3), rs1230345 (WISP3), rs17073268 (WISP3) and rs10456877 (downstream of WISP3) were identified for association with DDH, showing significant difference of allele frequencies with similar odds ratio ranging from 0.71 to 0.77 (p < 0.01) between cases and controls.
|
29680248 |
2018 |
rs1230345
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five SNPs rs69306665 (upstream of WISP3), rs1022313 (WISP3), rs1230345 (WISP3), rs17073268 (WISP3) and rs10456877 (downstream of WISP3) were identified for association with DDH, showing significant difference of allele frequencies with similar odds ratio ranging from 0.71 to 0.77 (p < 0.01) between cases and controls.
|
29680248 |
2018 |
rs17073268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five SNPs rs69306665 (upstream of WISP3), rs1022313 (WISP3), rs1230345 (WISP3), rs17073268 (WISP3) and rs10456877 (downstream of WISP3) were identified for association with DDH, showing significant difference of allele frequencies with similar odds ratio ranging from 0.71 to 0.77 (p < 0.01) between cases and controls.
|
29680248 |
2018 |
rs11718863
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three SNPs rs7639618, rs9864422 and rs11718863 (in DVWA) were genotyped using a Taqman 5' allelic discrimination assay on an ABI 7500 real-time polymerase chain reaction (PCR) instrument in 368 children who suffered from Developmental dysplasia of the hip and 508 control subjects, and analyzed their associations.
|
20238217 |
2011 |
rs7639618
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three SNPs rs7639618, rs9864422 and rs11718863 (in DVWA) were genotyped using a Taqman 5' allelic discrimination assay on an ABI 7500 real-time polymerase chain reaction (PCR) instrument in 368 children who suffered from Developmental dysplasia of the hip and 508 control subjects, and analyzed their associations.
|
20238217 |
2011 |
rs9864422
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three SNPs rs7639618, rs9864422 and rs11718863 (in DVWA) were genotyped using a Taqman 5' allelic discrimination assay on an ABI 7500 real-time polymerase chain reaction (PCR) instrument in 368 children who suffered from Developmental dysplasia of the hip and 508 control subjects, and analyzed their associations.
|
20238217 |
2011 |
rs763098832
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis.
|
30740902 |
2019 |
rs867986409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis.
|
30740902 |
2019 |
rs1554944271
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1569198
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For SNP rs1569198, significant differences were observed in both allele frequency and genotype distribution between the DDH group and control group (χ(2)=31.484, df=1, p<0.0001 and χ(2)=30.323, df=2, p<0.0001).
|
24926963 |
2014 |
rs61746008
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Fibrillin 1 gene with R2726W mutation is absent in patients with primary protrusio acetabuli and developmental dysplasia of the hip.
|
19396033 |
2009 |
rs143383
|
|
|
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 |
rs143383
|
|
|
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 |
rs143383
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our study shows that there exists a relationship between GDF5 (SNP rs143383) and DDH in our population.
|
29797005 |
2018 |
rs143383
|
|
|
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 |
rs143384
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP rs143384 of GDF5 gene on chromosome 20 demonstrated the most robust relationship with DDH phenotype in association studies.
|
31522852 |
2020 |
rs8844
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our objective was to evaluate whether single nucleotide polymorphisms (SNPs) of HOXB9 (rs2303486 and rs8844) were associated with DDH i</span>n Chinese population.
|
24600698 |
2014 |
rs2303486
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our objective was to evaluate whether single nucleotide polymorphisms (SNPs) of HOXB9 (rs2303486 and rs8844) were associated with DDH in Chinese population.
|
24600698 |
2014 |
rs711819
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Comparing the genotypic distribution of rs711819, there was significant differences between DDH patients group and control group (χ² = 7.54, df =2, P =0.023), and the association to DDH developing reached significance (P =0.045, OR =1.79, 95 % CI: 1.01-3.17 by dominant mode).
|
22520331 |
2012 |
rs1800796
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Data suggest association between TGFB1 29 T → C transition (rs1800470) and IL6 -572G → C transversion (rs1800796) with DDH, and also a possibility of TGF-beta1 and IL-6 interaction in DDH pathogenesis.
|
25603974 |
2015 |
rs1800796
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Further research is needed to validate the weak association between rs1800796 in IL-6 and DDH.
|
28860542 |
2017 |
rs726252
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our replication study indicated that the association between rs726252 and DDH in Chinese Han population was debatable.
|
24672801 |
2014 |
rs726252
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To further evaluate this possible association, in the present study, we examined the genetic association of rs726252 in PAPPA2 gene with sporadic DDH in Han Chinese population using case-control study, including 310 patients with sporadic DDH and 487 control subjects, and found a significant association between PAPPA2 and DDH.
|
22037112 |
2012 |
rs1553525325
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|