ArticlePediatric surgery international2016
Effects of SEMA3 polymorphisms in Hirschsprung disease patients.
Article in Pediatric surgery international, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- mRNA sequencing provides new insights into the pathogenesis of Hirschsprung's disease in mice.Pediatric surgery international · 2023Article
- NOX5 is expressed aberrantly but not a critical pathogenetic gene in Hirschsprung disease.BMC pediatrics · 2021Article
- Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.The Journal of international medical research · 2021Article
- Correlation of TNF-α and IL-10 gene polymorphisms with primary nephrotic syndrome.Experimental and therapeutic medicine · 2020Article
- Aberrant Expressions and Variant Screening ofFrontiers in pediatrics · 2020Article
- The effect of APTR, Fn14 and CD133 expressions on liver fibrosis in biliary atresia patients.Pediatric surgery international · 2020Article
- Chronic Megacolon Presenting in Adolescents or Adults: Clinical Manifestations, Diagnosis, and Genetic Associations.Digestive diseases and sciences · 2019Review
- microRNA-21 expressions impact on liver fibrosis in biliary atresia patients.BMC research notes · 2019Article
- Semaphorin 3C as a Therapeutic Target in Prostate and Other Cancers.International journal of molecular sciences · 2019Review
- Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease.Orphanet journal of rare diseases · 2019Article
- NRG1 variant effects in patients with Hirschsprung disease.BMC pediatrics · 2018Article
- Outcomes in patients with Hirschsprung disease following definitive surgery.BMC research notes · 2018Article
- The impact of down-regulated SK3 expressions on Hirschsprung disease.BMC medical genetics · 2018Article
- The utility of the hematoxylin and eosin staining in patients with suspected Hirschsprung disease.BMC surgery · 2017Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRecently, genetic markers within a locus on 7q21.11 containing the SEMA3A, SEMA3C, and SEMA3D genes were reported to be associated with Hirschsprung disease (HSCR). Here, we investigated three polymorphisms, rs1583147, rs12707682, and rs11766001, at this locus to determine their potential contributions to the susceptibility of Indonesian HSCR patients.
methodsThree variants were analyzed in 60 non-syndromic HSCR patients and 118 ethnicity-matched controls for association studies by genotyping.
resultsThe risk allele frequencies of SEMA3 rs12707682 (allele C) and rs1583147 (allele T) is higher in cases, 53 and 23 %, than in controls, at 42 and 13 %, respectively. However, these frequency differences were not statistically significant with p value of 0.06 and 0.023, respectively. These findings were consistent with transmission disequilibrium test results with p values of 0.041 and 0.11 for rs12707682 and rs1583147, respectively. Furthermore, the frequencies of SEMA3 rs11766001 risk allele in HSCR cases and controls were 1.7 and 0.8 %, respectively.
conclusionsSEMA3 rs12707682 and rs1583147 variants are not common risk factors for HSCR in Indonesia. The rarity of the SEMA3 rs11766001 polymorphism in Indonesian population might be due to a founder effect.
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