|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, individuals with five or six risk alleles at RET rs2506030, rs2435357 and NRG1 rs7835688 showed ∼45-fold higher HSCR risk than those with 0 or 1 or 2 risk alleles.
|
30502294 |
2019 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
GWASCAT |
Excluding the rare variant carriers from the genome-wide association analysis did not appreciably change the association of rs2435357 with Hirschsprung disease.
|
30031151 |
2019 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Excluding the rare variant carriers from the genome-wide association analysis did not appreciably change the association of rs2435357 with Hirschsprung disease.
|
30031151 |
2019 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
RET rs2506030 (GG genotype) and rs2435357 (TT genotype), in combination with NRG1 rs2439302 (GG genotype), were strongly associated with the highest risk of HSCR (OR = 56.53, P = 4.50E-07) compared with the two loci or a single SNP of either RET or NRG1.
|
28256518 |
2017 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results strengthen the proof that the RET rs2435357 variant is a genetic risk for HSCR in Indonesia.
|
27338539 |
2016 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
RET rs2435357 also showed significant frequency differences by gender, segment length of aganglionosis and familiality.
|
25666438 |
2015 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Colon tissue DNA samples showed similar frequency of SNPs as that of the blood DNA samples in HSCR patients, both of which are significantly higher than the control blood group (rs2435357 TT genotype: 71.2%, 74.7% versus 22.0% in HSCR blood, HSCR colon and control blood DNA respectively, P=0.000; rs2506004 AA genotype: 72.4%, 83.1% versus 25.5%, P=0.000; rs2506030 GG genotype: 79.7%, 77.2% versus 54.2%, P=0.000 and 0.004).
|
26191260 |
2015 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Two locus analyses of variants showed significant interactions with increased and decreased disease risks of HSCR at NRG1 but conditional on rs2435357 genotype.
|
25475805 |
2014 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Particularly variant alleles of rs1864410, rs2435357, rs2506004 (intron 1), rs1800858 (exon 2), rs1800861 (exon 13), and rs2565200 (intron 19) were strongly associated with increased risk of HSCR (p<0.00000) and were over-represented in males vs. females.
|
24897126 |
2014 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
No correlation between the rs2435357 polymorphism of RET and the expression of Hirschsprung disease was found.
|
24845202 |
2014 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This study focuses on variations of specific RET intron, 1 SNPs (viz, SNP1 [rs2506004] and SNP2 [rs2435357]) in DS-HD.
|
22325379 |
2012 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The RET-protooncogene rs2435357 (TT genotype) in combination with the NRG1 rs2439305 (GG genotype) was strongly associated with an increased risk of HSCR with a P-value of 1.99E-04 (OR=20.34, 95% CI; 2.54-162.78) when compared with a single SNP of the RET-protooncogene or NRG1.
|
22377709 |
2012 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In addition Taqman technology was applied for the genotyping of 3 RET CVs previously associated to HSCR, including a variant lying in an enhancer domain within RET intron 1 (rs2435357).
|
21995290 |
2011 |
|
rs2435357
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Two noncoding variations in RET-the T allele of the single nucleotide polymorphism (SNP) rs2435357 (Enh1:C>T) and the A allele of the SNP rs2506004 (Enh2:C>A)-are associated with Hirschsprung's disease.
|
20977903 |
2011 |
|
rs2435357
|
|
C |
0.900 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs16879552
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Specific genetic variants at RET (rs2435357) and NRG1 (rs7835688, rs16879552) are associated with Hirschsprung disease (HSCR) in Indonesia.
|
30502294 |
2019 |
|
rs16879552
|
|
|
0.850 |
GeneticVariation |
BEFREE |
In this study, using 1470 HSCR and 1473 control subjects in South Chinese population, we replicated two variants in NRG1 (rs16879552, P = 1.05E-04 and rs7835688, P = 1.19E-07), and further clarified the two replicated SNPs were more essential for patients with short-segment aganglionosis (SHSCR) (P = 2.37E-05).
|
29377512 |
2018 |
|
rs16879552
|
|
|
0.850 |
GeneticVariation |
BEFREE |
We investigated the effects of RET (rs2506030 and rs2435357), NRG1 (rs2439302, rs16879552 and rs7835688) and NRG3 (rs10748842, rs10883866 and rs6584400) polymorphisms in a Chinese population with HSCR.
|
28256518 |
2017 |
|
rs16879552
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Furthermore, pooled data based on segment length indicated that individuals with rs7835688 experienced a significantly higher risk for short-segment HSCR in all genotypes; but rs16879552 was only found to be associated with long-segment HSCR/ total colonic aganglionosis at the allele level.
|
28855726 |
2017 |
|
rs16879552
|
|
|
0.850 |
GeneticVariation |
BEFREE |
NRG1 rs7835688 was modestly associated with HSCR only by case-control analysis (p=4.3 × 10(-3)), whereas rs16879552 demonstrated no association (p>0.097).
|
25475805 |
2014 |
|
rs16879552
|
|
G |
0.850 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
|
19196962 |
2009 |
|
rs16879552
|
|
G |
0.850 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
|
19196962 |
2009 |
|
rs2742234
|
|
T |
0.800 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
|
19196962 |
2009 |
|
rs2742234
|
|
T |
0.800 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
|
19196962 |
2009 |
|
rs77316810
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.
|
29020875 |
2017 |