Seyed Hamed Hosseini-Jangjou1, Seyed Alireza Dastgheib2, Majid Aflatoonian3, Abdolhamid Amooee4, Reza Bahrami5, Elham Salehi6, Jalal Sadeghizadeh-Yazdi7, Hossein Neamatzadeh8,9. 1. Department of Pediatrics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 2. Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. 3. Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. 4. Department of Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. 5. Neonatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. 6. Department of Basic Science, Faculty of Veterinary Medicine, Ardakan University, Ardakan, Iran. 7. Department of Food Sciences and Technology, School of Public Health, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. 8. Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. 9. Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Abstract
BACKGROUND: 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 association between Neuregulin-1 (NRG1) rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms and the risk of HSCR. Methods: We determined and compared the frequency of NRG1 polymorphisms rs7835688 G > C, rs16879552 T > C and rs2439302 G > C in 70 children with HSCR and 90 controls by TaqMan SNPs genotyping assays. Results: No significant differences in allele or genotype frequencies of NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were observed between HSCR cases and controls. Analyses showed that the NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were not significantly associated with an increased risk of non-syndromic HSCR. Conclusions: Our findings suggested that NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms are not a risk factor in development of HSCR.
BACKGROUND: 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 association between Neuregulin-1 (NRG1) rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms and the risk of HSCR. Methods: We determined and compared the frequency of NRG1 polymorphisms rs7835688 G > C, rs16879552 T > C and rs2439302 G > C in 70 children with HSCR and 90 controls by TaqMan SNPs genotyping assays. Results: No significant differences in allele or genotype frequencies of NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were observed between HSCR cases and controls. Analyses showed that the NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were not significantly associated with an increased risk of non-syndromic HSCR. Conclusions: Our findings suggested that NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms are not a risk factor in development of HSCR.