|
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 |
|
rs1553525325
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
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 |
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 |
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 |
|
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 |
|
rs1800470
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found SNP rs1800470 in TGFB1 (OR = 1.255, P = 0.0004) and rs1800796 (OR = 0.84, P = 0.0228) in IL-6 to be significantly associated with DDH in this cohort.
|
28860542 |
2017 |
|
rs1800796
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Further research is needed to validate the weak association between rs1800796 in IL-6 and DDH.
|
28860542 |
2017 |
|
rs1800470
|
|
|
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 |
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 |
|
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 |
|
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 |
|
rs3782499
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To conclude, polymorphism rs3782499 of WIF1 gene is a functional variant regulating the expression of WIF1 in DDH in Chinese Han population, which might be a potential biomarker for the early diagnosis of DDH.
|
30670715 |
2019 |
|
rs61930502
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The minor allele, rs61930502-A, which tended to prevent DDH showed a dominant effect.
|
30511388 |
2019 |
|
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 |
|
rs764256352
|
|
|
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 |
|
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 |
|
rs10456877
|
|
|
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 |
|
rs6060373
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study demonstrates common variants of UQCC, specifically rs6060373, are associated with DDH in Han Chinese population.
|
25848760 |
2015 |
|
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 |
|
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 |