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 |
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 |
rs5443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Unique to our study is the establishment of an association between CRS in this patient population and GNB3 SNP rs5443, a variation in an established G protein component downstream of bitterant receptor signal transduction.
|
31137020 |
2019 |
rs7528947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For two SNPs in a gene recently associated with bitterant signaling regulation, RGS21, there were no associations with CRS (although the frequency of the minor allele of RGS21, rs7528947, was seen to increase with increasing Lund-Mackay CT staging score).
|
31137020 |
2019 |
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 |
rs37973
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs37973 polymorphism is related to postoperative recovery from CRS for individual sensitivity to glucocorticoids.
|
30256538 |
2018 |
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 |
rs12793173
|
|
|
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 |
rs12883884
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A trend was also observed for decreased prevalence of rs12883884 in CRS patients compared with controls in the African American subgroup (p = 0.086).
|
28236359 |
2017 |
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 |
rs1015443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919).
|
24415641 |
2014 |
rs10246939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study replicates previous work which showed that the coding SNP rs10246939 in the TAS2R38 gene is associated with CRS.
|
24415641 |
2014 |
rs12226919
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919).
|
24415641 |
2014 |
rs12226920
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919).
|
24415641 |
2014 |
rs2917454
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS.
|
24595210 |
2014 |
rs6907229
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS.
|
24595210 |
2014 |
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 |
rs2282851
|
|
|
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 |
rs28933372
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral-facial-digital syndrome, and non-syndromic polydactyly.
|
23633388 |
2013 |
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 |
rs121918501
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Several of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are attributable to a loss-of-function mechanism in contrast to the frequently reported gain-of-function receptor function associated with mutated FGF receptors in craniosynostosis.
|
22872266 |
2012 |
rs1224606327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
|
21928350 |
2012 |
rs1350033384
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
|
21928350 |
2012 |
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 |
rs4532099
|
|
|
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 |