|
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 |
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 |
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 |
RET rs2435357 also showed significant frequency differences by gender, segment length of aganglionosis and familiality.
|
25666438 |
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 |
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 |
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 |
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
|
|
|
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 |
|
rs77316810
|
|
|
0.760 |
GeneticVariation |
BEFREE |
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
|
22584707 |
2012 |
|
rs77316810
|
|
|
0.760 |
GeneticVariation |
BEFREE |
This family added a novel RET missense mutation (C620S) predisposing to the association of MEN 2A and Hirschsprung's disease.
|
10549772 |
1999 |
|
rs77316810
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We report an extensive molecular study of patients, two with HSCR and FMTC carrying a Cys620Arg or Ser mutation and two with MEN-2B and gastrointestinal symptoms carrying a Met918Thr mutation.
|
9681852 |
1998 |
|
rs77316810
|
|
|
0.760 |
GeneticVariation |
BEFREE |
In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.
|
9745455 |
1998 |
|
rs77316810
|
|
|
0.760 |
GeneticVariation |
BEFREE |
An initial report linked HSCR1 in MEN 2A solely to the C618R and C620R RET mutations.
|
9384613 |
1998 |
|
rs77316810
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR.
|
7633441 |
1995 |
|
rs77503355
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In three families second germline mutations were detected: Cys620Phe (exon 10) in MEN2A family, Met918Thr (exon 16) in MEN2B family, and Ser649Leu (exon 11) in HSCR patient.
|
19826964 |
2009 |
|
rs77503355
|
|
|
0.730 |
GeneticVariation |
BEFREE |
This family added a novel RET missense mutation (C620S) predisposing to the association of MEN 2A and Hirschsprung's disease.
|
10549772 |
1999 |
|
rs77503355
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.
|
9745455 |
1998 |
|
rs77724903
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y791F, n=3) had sporadic short-segment HD with normal thyroid US and serum calcitonin.
|
23744765 |
2013 |
|
rs77724903
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Detection of the Tyr791Phe mutation in MEN2/MTC and also in HSCR families leads to the question whether this mutation has a dual character (gain-of-function as well as loss-of-function).
|
19826964 |
2009 |
|
rs9282834
|
|
|
0.710 |
GeneticVariation |
BEFREE |
When in trans with the RET intron 1 enhancer risk allele, rs9282834 increases the risk of HSCR from 1.1 to 26.7.
|
27702942 |
2016 |