|
rs80338700
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs937726878
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1476413
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This study aims to examine whether the presence of polymorphisms in TNF-α (rs361525 and rs1799724) and MTHFR (rs1476413 and rs9651118) genes is associated with the pathogenesis of cerebral palsy (CP).
|
26646537 |
2016 |
|
rs1800795
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism (SNP), rs1800795, in the promoter region of the interleukin-6 (IL6) gene has been implicated in the pathogenesis of CP by mediating IL-6 protein levels in amniotic fluid and cord plasma and within brain lesions.
|
24314052 |
2013 |
|
rs1476413
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Subgroup analysis found statistically significant difference in allele and genotype frequencies between cases with both CP and MR (CP + MR) compared with both CP-only cases and controls at rs4846049, rs1476413 and rs1801131.
|
20962791 |
2011 |
|
rs1800795
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This meta-analysis demonstrated that CP is associated with the genetic polymorphism IL-6 (rs1800795).
|
21291465 |
2011 |
|
rs1005573
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The haplotype CTTG for rs6517135-rs1005573-rs6517137-rs9653711 in OLIG2 was also significantly associated with the occurrence of CP in infants with HIE (p = 0.01, OR = 0.521).
|
30178266 |
2019 |
|
rs1057519583
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome.
|
31245382 |
2019 |
|
rs16944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association Between rs3833912/rs16944 SNPs and Risk for Cerebral Palsy in Mexican Children.
|
29931509 |
2019 |
|
rs6517135
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found marginal association of the SNP rs6517135 with CP (p = 0.044) at the genotype level, and the association was greatly strengthened when we focused on the subgroup of CP infants who suffered from hypoxic-ischemic encephalopathy (HIE) after birth, with p = 0.003 (OR = 0.558) at the allele level and p = 0.007 at the genotype level, indicating a risk-associated role of the T allele of the SNP rs6517135 under HIE conditions.
|
30178266 |
2019 |
|
rs6517137
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The haplotype CTTG for rs6517135-rs1005573-rs6517137-rs9653711 in OLIG2 was also significantly associated with the occurrence of CP in infants with HIE (p = 0.01, OR = 0.521).
|
30178266 |
2019 |
|
rs765462548
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome.
|
31245382 |
2019 |
|
rs9653711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The haplotype CTTG for rs6517135-rs1005573-rs6517137-rs9653711 in OLIG2 was also significantly associated with the occurrence of CP in infants with HIE (p = 0.01, OR = 0.521).
|
30178266 |
2019 |
|
rs10431386
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results of in vitro studies suggest that C alleles of rs10431386 and rs7964786 on MLEC promotes CP by inhibiting M1 to M2 macrophage polarization.
|
28972276 |
2018 |
|
rs10774909
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subgroup analysis revealed differences in genotype frequencies between the CP with neonatal encephalopathy group (CP + NE) and control group for rs10774909, rs3741475, and rs2682826 (after SNPSpD correction, p = 0.004, 0.012, and 0.002, respectively).
|
29940959 |
2018 |
|
rs1800871
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The differences in the rs3024490 (<i>p</i> = 0.033) and rs1800871 (<i>p</i> = 0.033) allele frequencies of <i>IL-10</i> were determined between CP patients and controls.
|
29623066 |
2018 |
|
rs191727850
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We revealed that the rare alleles T of rs3802169 and G of rs191727850 were found to be associated with an increased risk of cerebral palsy (OR=3.71, 95% CI 1.74-7.92 and OR=2.18, 95% CI 1.36-3.49, respectively).
|
29770797 |
2018 |
|
rs201093713
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108).
|
28954305 |
2018 |
|
rs2682826
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subgroup analysis revealed differences in genotype frequencies between the CP with neonatal encephalopathy group (CP + NE) and control group for rs10774909, rs3741475, and rs2682826 (after SNPSpD correction, p = 0.004, 0.012, and 0.002, respectively).
|
29940959 |
2018 |
|
rs3024490
|
|
|
0.010 |
GeneticVariation |
BEFREE |
IL-10 polymorphisms and protein association analysis showed that the TT genotype had higher plasma IL-10 protein levels compared to the GG + GT genotype at rs3024490 (11.14 ± 7.27 vs. 7.44 ± 6.95 pg/ml, <i>p</i> = 0.045, respectively) in CP cases.
|
29623066 |
2018 |
|
rs3741475
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subgroup analysis revealed differences in genotype frequencies between the CP with neonatal encephalopathy group (CP + NE) and control group for rs10774909, rs3741475, and rs2682826 (after SNPSpD correction, p = 0.004, 0.012, and 0.002, respectively).
|
29940959 |
2018 |
|
rs3802169
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We revealed that the rare alleles T of rs3802169 and G of rs191727850 were found to be associated with an increased risk of cerebral palsy (OR=3.71, 95% CI 1.74-7.92 and OR=2.18, 95% CI 1.36-3.49, respectively).
|
29770797 |
2018 |
|
rs7964786
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results of in vitro studies suggest that C alleles of rs10431386 and rs7964786 on MLEC promotes CP by inhibiting M1 to M2 macrophage polarization.
|
28972276 |
2018 |
|
rs6568431
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, mean plasma ATG5 levels were lower in CP patients than in controls, and individuals carrying the AA genotype of rs6568431 that was positively associated with CP had lower plasma ATG5 levels (<i>P</i> < 0.05).
|
29326554 |
2017 |
|
rs1001179
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CAT rs1001179 polymorphism could be used to identify children that have a higher susceptibility to cerebral palsy after perinatal HIE.
|
27302388 |
2016 |