Genetics Research
rs16879552
Population Frequencies12
African
C 0.77836T 0.22164CC 0.606809CT/TC 0.343108TT 0.050083pop=63,974
African American
C 0.77961T 0.22039CC 0.608579CT/TC 0.342052TT 0.049369pop=61,780
African Others
C 0.7434T 0.2566CC 0.556974CT/TC 0.372835TT 0.070191pop=2,194
Asian
C 0.39489T 0.60511CC 0.178183CT/TC 0.433408TT 0.388409pop=14,356
East Asian
C 0.34865T 0.65135CC 0.130122CT/TC 0.437062TT 0.432817pop=10,836
European
C 0.977593T 0.022407CC 0.955738CT/TC 0.04371TT 0.000552pop=547,202
Latin American 1
C 0.9083T 0.0917CC 0.8254CT/TC 0.16589TT 0.00871pop=9,874
Latin American 2
C 0.88475T 0.11525CC 0.784136CT/TC 0.201222TT 0.014642pop=22,264
Other
C 0.88397T 0.11603CC 0.805645CT/TC 0.156657TT 0.037699pop=29,338
Other Asian
C 0.5372T 0.4628CC 0.326136CT/TC 0.422159TT 0.251705pop=3,520
South Asian
C 0.9274T 0.0726CC 0.862468CT/TC 0.12982TT 0.007712pop=3,112
Studies46
Unread Studies46 ▼
1
Hirschsprung disease (HSCR) is a congenital neurodevelopmental disorder characterized by segmental aganglionosis due to impaired developmental processes of enteric neural crest …
2
Hirschsprung disease (HSCR) is a congenital enteric neuropathy with distal aganglionosis and dysmotility. Germline mutations explain many familial cases, but …
3
Penyakit Hirschsprung (HSCR) adalah kelainan kongenital yang menyebabkan obstruksi usus akibat ketiadaan sel ganglion di pleksus myenterikus dan submukosa. HSCR …
4
… for Sequence-variant Classification (ESCAT) scale as likely benign (rs3924999—intron region; rs7832768—promoter region) or uncertain significance (rs10503929 and rs16879552—…
5
This case report describes a rare occurrence of Hirschsprung's disease presenting in a 26-year-old pregnant woman from a rural area in Indonesia. Initially asymptomatic for pregnancy-…
6
SNP rs2439302 (NRG1) and rs2435357 (RET) were genotyped in 470 HSCR cases. The expression of NRG1 and RET was investigated in the colon of HSCR patients. …
7
As a congenital and genetically related disease, many single nucleotide polymorphisms (SNPs) have been reported to be associated with the risk of HSCR. Our previous …
8
Since Swenson (1) first successfully performed surgical treatment for Hirschsprung’s disease (HSCR) in 1948, many modifications and advanced techniques have been used to improve …
9
The extent of surgical treatment for most patients with thyroid cancer (TC) remains controversial and varies widely. As an emerging technology, genetic testing …
10
Hirschsprung’s disease (HSCR) is a heterogeneous congenital malformation of the enteric nervous system with a complex genetic etiology. We investigated if there was an …
11
NRG1 is a gene that encodes for a protein that binds to a receptor of the tyrosine kinase family which is essential for the survival of the central nervous system development during …
12
Hirschsprung disease (HSCR) is a developmental disorder of the enteric nervous system (ENS) characterized by congenital aganglionosis arising from coding variants in ENS …
13
A doença de Hirschsprung, também conhecida como megacólon aganglionar congênito, é uma desordem rara caracterizada pela heterogeneidade genética e associação com …
14
… Strong association of common SNPs (rs7835688 and rs16879552) lowering expression of NRG1 was first identified in a GWAS on Chinese population and was widely replicated across …
15
Hirschsprung disease (HSCR) is a neurodevelopmental disorder with a strong genetic component. Common variants of NRG1 contributed to HSCR risk in Asians, and rare …
16
… For within locus analysis, given the rarity of risk alleles at the significant NRG1 variants rs16879552 and rs16879576, we didn’t assess their effect. Risk alleles across all significant …
17
Specific genetic variants at RET (rs2435357) and NRG1 (rs7835688, rs16879552) are associated with Hirschsprung disease (HSCR) in Indonesia. This study aimed to …
18
Hirschsprung’s disease (HSCR) and African degenerative leiomyopathy (ADL) are rare gastrointestinal disorders affecting neonates and young children. HSCR is …
19
… GWAS-identified SNP rs16879552 and rs7835688 are more … independence contribution of rs16879552 was not identified. … which is similar to SNP rs16879552, it is also contributed to …
20
Hirschsprung's disease ( HSCR ) is a rare and complex congenital disorder characterized by the absence of the enteric neurons in lower digestive tract with an incidence of 1/5 000. …
21
Hirschsprung's disease (HSCR) is a congenital disorder, defined by partial or complete loss of the neuronal ganglion cells in the intestinal tract, which is caused by the failure of neural …
22
Organizational performance in the manufacturing industry is directly influenced by quality; and through an examination of literature, critical success factors that lead to the …
23
… NRG1 variants rs7835688 and rs16879552 and Hirschsprung's … Nine case-control studies (8 for both and 1 for rs16879552 … Rs16879552 was significantly associated with HSCR in per-…
24
… All associations were first identified in European patients with HSCR except for rs16879552 and rs7835688 at NRG1, which were first identified in Chinese patients (9.). TaqMan human …
25
… Here, we investigated three common genetic markers: RET rs2506030 and NRG1 rs7835688 and rs16879552, to determine their potential interactions to the susceptibility of HSCR in …
26
The RET proto-oncogene was identified as a major locus involved in Hirschsprung disease (HSCR). A genome-wide association study (GWAS) and whole exome sequencing identified …
27
… Other examples are NRG1 common variants rs16879552 and rs7835688. These polymorphisms have been related to Hirschsprung disease in Asian ancestry cases 14–16 ; however, …
28
… Recent evidence has revealed an association between two SNPs (rs16879552 and rs7835688) located in intron 1 of the NRG1 gene and the occurrence of HD in the Chinese …
29
Hirschsprung disease (HSCR) is the most common cause of neonatal intestinal obstruction. It is characterized by the absence of ganglia in the nerve plexuses of the lower …
30
… There have been other examples differential association of SNPs with a disease in different ethnic background, an example being NRG1 SNPs, rs16879552 and rs7835688. NRG1 has …
31
… is a second susceptibility locus identified through a genome-wide association study (GWAS) in Asian subjects with two common, independent risk variants, rs7835688 and rs16879552, …
32
… P-MB-17 Rapid detection of the rs16879552 and rs7835688 of the neuregulin 1 in hirschsprung disease using real-time PCR with taqman minor groove binder probes …
33
… platforms, only NRG1 rs16879552 in our GWAS was matched and could be compared to that of the previous GWAS. This study showed a nominal relevance at rs16879552 (Table S2), …
34
… We do not believe this result to be anomalous since rs16879552 shows high variation within … We assert this because the allele frequency of rs16879552 in Indonesian cases (82%) is …
35
Based on the function of neuregulin 1 (NRG1) in neurodevelopment, susceptibility to bipolar disorder presumably involves this gene. The 3′ region of NRG1 contains the …
36
… We also included the tagSNP rs2439305, which was in the same LD block as rs16879552 and rs7835688, according to the HapMap database. The SNPs were located within the …
37
… The patient with this mutation is homozygous for the NRG1 rs16879552 or rs7835688 risk alleles although it is too early to assess whether this has any bearing in the manifestation of …
38
… in the Chinese population, being this supported by the fact that great differences are observed among the frequencies of the studied variants between both populations (rs16879552 …
39
First described by Danish pediatrician Harald Hirschsprung, Hirschsprung disease (HSCR) is a disorder of the enteric nervous system characterized by the absence of variable length of …
40
… Beyond the region set by rs10088313 and rs16879552, we did not found any SNPs of similar levels of LD and significance. Thus, fine mapping coupled with imputation identified 5 …
41
… Within the region, the strongest associations were found for two physically close SNPs, rs16879552 and rs7835688 with association values of p=1.80x10-8 and p=1.12x10-9, …
42
… Results: Aside from SNPs in RET, the strongest overall associations were found for two SNPs located in intron 1 of the neuregulin1 gene (NRG1) on 8p12, with rs16879552 and …
43
… associations were found for two SNPs (rs16879552 and rs7835688) located in intron 1 of … -9) for the heterozygous risk genotypes of rs16879552 and rs7835688 respectively under the …
44
Genes for RET and its ligands. The tyrosine kinase receptor, RET (proto-oncogene tyrosine-protein kinase receptor; rearranged during transfection), is expressed by enteric neural …
45
… NRG1 rs7835688 was significantly associated with HSCR and rs16879552 was only marginally associated with HSCR at p-values of 3.93E-03 (OR=2.04, 95% CI=1.25-3.33) and 9.50E-…
46
Hirschsprung disease (HSCR) is a congenital enteric neuropathy with distal aganglionosis and dysmotility. Germline mutations explain many familial cases, but …
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
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Unused Studies0 ▼
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