ArticleAfrican journal of paediatric surgery : AJPS
A study on genetic polymorphism of RET proto-oncogene in Hirschsprung's disease in children.
Article in African journal of paediatric surgery : AJPS. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors at 3 institutions in 1 country.
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Abstract
backgroundHirschsprung's disease (HD) is a genetic disorder with a complex pattern of inheritance. Some single-nucleotide polymorphisms (SNPs) are identified to be associated with the risk of Hirschsprung's Disease (HSCR). AIMS AND
objectivesThe aim of this study is to know the association between the rearranged during transfection (RET) proto-oncogene polymorphism and HD and to characterize the SNPs of RET proto-oncogene affecting HD. MATERIALS AND
methodsThe study was conducted in the Department of Pathology in association with the Department of Pediatric Surgery. Blood samples were collected from the patients diagnosed with confirmed HD and from age- and sex-matched controls. This case-control study consisted of 53 HSCR cases and 50 controls. Genotypes of rs1800860 and rs1800861 were analysed in by polymerase chain reaction amplification and sanger sequencing. Associations with the risk of HSCR were estimated by odds ratio (OR) and their 95% confidence intervals (95% CI) using.
resultsWe observed that in the case of rs1800860A > G genotype AG was not associated with the increasing risk of disease (OR with 95% CI = 0.568 [0.238-1.356]) while genotype GG was associated with increasing the risk of the disease (OR with 95% CI = 2.278 [0.967-5.366]). In the case of rs1800861G > T genotype GT was associated with lowering the risk of the disease (OR with 95% CI = 0.230 [0.0981-0.539]) while genotype TT was associated with increasing the risk of the disease (OR with 95% CI = 9.647 [3.830-24.302]). The difference in the genotypic distribution of GT and TT at rs1800861G > T between Short segment disease (SSD) cases and Long Segment Disease (LSD) and total colonic aganglionosis was made by Fisher's exact test and it was statistically significant (P = 0.0476 and 0.0054).
conclusionThe results of this study support the hypothesis that variations in RET pathway might play an important role in the development of HSCR.
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