Association of Neuregulin 1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C Polymorphisms with Susceptibility to Non-Syndromic Hirschsprung's Disease

被引：2
|
作者：
Hosseini-Jangjou, Seyed Hamed [1 ]
Dastgheib, Seyed Alireza [2 ]
Aflatoonian, Majid [3 ]
Amooee, Abdolhamid [4 ]
Bahrami, Reza [5 ]
Salehi, Elham [6 ]
Sadeghizadeh-Yazdi, Jalal [7 ]
Neamatzadeh, Hossein [8 ,9 ]
机构：
[1] Shahid Beheshti Univ Med Sci, Dept Pediat, Tehran, Iran
[2] Shiraz Univ Med Sci, Sch Med, Dept Med Genet, Shiraz, Iran
[3] Shahid Sadoughi Univ Med Sci, Dept Pediat, Yazd, Iran
[4] Shahid Sadoughi Univ Med Sci, Dept Surg, Yazd, Iran
[5] Shiraz Univ Med Sci, Neonatol Res Ctr, Shiraz, Iran
[6] Ardakan Univ, Fac Vet Med, Dept Basic Sci, Ardakan, Iran
[7] Shahid Sadoughi Univ Med Sci, Sch Publ Hlth, Dept Food Sci & Technol, Yazd, Iran
[8] Shahid Sadoughi Univ Med Sci, Dept Med Genet, Yazd, Iran
[9] Shahid Sadoughi Univ Med Sci, Mother & Newborn Hlth Res Ctr, Yazd, Iran
来源：
FETAL AND PEDIATRIC PATHOLOGY | 2021年 / 40卷 / 03期
关键词：
Hirschsprung's disease; non-syndromic; Neuregulin; 1; association; polymorphism; RET-PROTOONCOGENE; NRG1; GENETICS;
D O I：
10.1080/15513815.2019.1692113
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
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.
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收藏
页码：198 / 205
页数：8
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