|
rs1884302
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The in vitro results suggest that altered BMP2 regulatory function at rs1884302 may contribute to the etiology of sagittal nonsyndromic craniosynostosis.
|
28985029 |
2017 |
|
rs42336
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The allelic association analysis showed eight single nucleotide polymorphisms in the MET gene (rs38850, rs38855, rs38857, rs2237717, rs2402118, rs193688, rs1621, rs42336) with a statistically significant association with CRS.
|
20416453 |
2010 |
|
rs12188164
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistical significance disappeared among Caucasians when stratified by gender, but persisted among African American women (p = 0.047). rs12188164 and rs12793173 were both more prevalent in African Americans with CRS than controls (p = 0.042 and p = 0.020, respectively).
|
28236359 |
2017 |
|
rs34210653
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Most notably, a missense variant in ALOX15 that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P = 8.0 × 10<sup>-27</sup>, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P = 1.1 × 10<sup>-8</sup>, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity.
|
30643255 |
2019 |
|
rs4504543
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two SNPs respectively in RYBP (rs4532099, p = 2.15E-06, OR = 2.59) and AOAH (rs4504543, p = 0.0001152, OR = 0.58) significantly associated with whole CRS cohort.
|
22723975 |
2012 |
|
rs1318358361
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R.
|
9279764 |
1997 |
|
rs3810831
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Major allele homozygosity for CD8A (rs3810831) was associated with a higher frequency of affected relatives (p = 0.052), increased severity as characterized by age at diagnosis (p = 0.009), age at first surgery (p = 0.004), and number of surgeries (p = 0.008), whereas TAPBP (rs2282851) was associated increased risk for CRS (odds ratio [OR] = 2.48, p = 0.0076).
|
23640800 |
2013 |
|
rs75527207
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ivacaftor improves QOL in the R, P, and S domains in G551D CF patients, although QOL instruments validated for CRS may not translate well to CF CRS patients because symptom burden was surprisingly low.
|
30472785 |
2019 |
|
rs213950
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, 9 of the 10 CF carriers had the polymorphism M470V, and M470V homozygotes were overrepresented in the remaining 136 CRS patients (P =.03).
|
11025834 |
2000 |
|
rs886043448
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings showed that c. 8030G>A of DNAH5 may be implicated as the disease-causing gene of CRS and PCD in this Chinese family, which may expand the understanding of clinicians on the pathogenesis of CRS.
|
24150548 |
2014 |
|
rs140598
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A proline-to-alanine change at position 1148 in exon 27 (Pro1148Ala) has been reported in probands with MFS, aortic aneurysm or Marfanoid-craniosynostosis.
|
9150726 |
1997 |
|
rs200215055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, the magnitude of the IFN-γ response elicited by IgG1 antibodies with CRS-inducing potential was determined by donor FcγRIIIa-V158F polymorphism.
|
29953319 |
2019 |
|
rs981703846
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations.
|
12357470 |
2002 |
|
rs981703846
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
|
10951518 |
2000 |
|
rs981703846
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here, we report a novel mutation in exon 8 (IIIc) of FGFR3, p.Ala334Thr, in a young boy with mild craniosynostosis.
|
22038757 |
2011 |
|
rs121909627
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1).
|
10942429 |
2000 |
|
rs121909627
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
9279753 |
1997 |
|
rs756016701
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
|
10951518 |
2000 |
|
rs756016701
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations.
|
12357470 |
2002 |
|
rs768918396
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis.
|
22038757 |
2011 |
|
rs121918487
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases.
|
28790902 |
2017 |
|
rs121918487
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs776587763
|
|
|
0.710 |
GeneticVariation |
BEFREE |
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
|
28849010 |
2017 |
|
rs776587763
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057520044
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |