2017
DOI: 10.18632/aging.101294
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Abstract: Hischsprung disease (HSCR) is an intestinal disorder with strong genetic components. RET was considered as the strongest contributor. Multiple single nucleotide polymorphisms (SNP) were demonstrated as associated with HSCR in different populations. However, whether the associations of reported SNPs derived from one causal variants or congregations of multiple variants were still not clear. In this study, we successfully genotyped 16 SNPs in RET with a largest case-control study to date, totaling 1470 HSCR and … Show more

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Cited by 10 publications
(16 citation statements)
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References 20 publications
(23 reference statements)
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“… proved the interaction of variants in RET and NRG1 increases the risk to HSCR development. In our previous study, we also proved the intragenic epistasis in RET common variants elevated the risk to HSCR . Epistasis between the same or different genes provides us a new perspective for exploring hidden genetic influence.…”
Section: Discussionmentioning
confidence: 62%
“… proved the interaction of variants in RET and NRG1 increases the risk to HSCR development. In our previous study, we also proved the intragenic epistasis in RET common variants elevated the risk to HSCR . Epistasis between the same or different genes provides us a new perspective for exploring hidden genetic influence.…”
Section: Discussionmentioning
confidence: 62%
“…A meta-analysis study from Liang et al reported that the SNPs of (rs1800858, rs1800860, rs10900297 and rs2435357) RET polymorphisms was significantly associated with an increased risk of HSCR [49]. Subsequently, Zhang et al [35] found that the risk of RET SNPs in S-HSCR patients was significantly higher than in patients with L-HSCR and TCA in the sporadic cases. However, we found that the rs2682818 polymorphism significantly reduced HSCR susceptibility in the L-HSCR population in the stratified analysis based on ganglion length.…”
Section: Discussionmentioning
confidence: 99%
“…These patients were diagnosed as HSCR in the pediatric outpatient clinic of Guangzhou Women and Children Children's Hospital (Guangzhou, China). The description of specific diagnostic criteria for HSCR could be found in our previous studies [35]. Participants without a history of HSCR and neurological disease were used as controls.…”
Section: Study Subjectsmentioning
confidence: 99%
“…Different association studies (case‐control and/or trios) on isolated sporadic HSCR cases have been performed They have been focused on RET gene and haplotype sharing was found for a region including 4 kb of the 5′UTR, exon 1, intron 1 and exon 2 of RET . Specifically, one SNP (c.73+9277C>T, rs2435357) within highly conserved enhancer like sequence intron 1 (MCS + 9.7) is most likely a low‐penetrant disease‐causing variant implicated in HSCR development .…”
Section: Ret/gdnf/gfra1 Signaling Pathwaymentioning
confidence: 99%
“…9 Additional studies led to discover that the ancestral haplotype linked to disease contains two SNPs at −5 and − 1 from the transcription start site (−5 A>G, rs19000296 and − 1 C>A, rs10900297). 11,[57][58][59][60] Different association studies (case-control and/or trios) on isolated sporadic HSCR cases have been performed 12,57,60,61 They have been focused on RET gene and haplotype sharing was found for a region including 4 kb of the 5 0 UTR, exon 1, intron 1 and exon 2 of RET. Specifically, one SNP (c.73+9277C>T, rs2435357) within highly conserved enhancer like sequence intron 1 (MCS + 9.7) is most likely a low-penetrant disease-causing variant implicated in HSCR development.…”
Section: One Of the Most Important Signaling Pathways Involved In Ensmentioning
confidence: 99%