Applications and research advances of multi-omics for Hirschsprung’s disease

References:

[1] Nagy N,Goldstein AM.Enteric nervous system development:a crest cell’s journey from neural tube to colon[J].Semin Cell Dev Biol,2017,66:94-106.DOI:10.1016/j.semcdb.2017.01.006.
[2] Mueller JL,Goldstein AM.The science of Hirschsprung disease:What we know and where we are headed[J].Semin Pediatr Surg,2022,31(2):151157.DOI:10.1016/j.sempedsurg.2022.151157.
[3] Tilghman JM,Ling AY,Turner TN,et al.Molecular genetic anatomy and risk profile of Hirschsprung’s disease[J].N Engl J Med,2019,380(15):1421-1432.DOI:10.1056/NEJMoa1706594.
[4] Karim A,Tang CSM,Tam PKH.The emerging genetic landscape of Hirschsprung disease and its potential clinical applications[J].Front Pediatr,2021,9:638093.DOI:10.3389/fped.2021.638093.
[5] Chng SH,Pachnis V.Enteric nervous system:lessons from neurogenesis for reverse engineering and disease modelling and treatment[J].Curr Opin Pharmacol,2020,50:100-106.DOI:10.1016/j.coph.2020.02.001.
[6] Stavely R,Bhave S,Ho WLN,et al.Enteric mesenchymal cells support the growth of postnatal enteric neural stem cells[J].Stem Cells,2021,39(9):1236-1252.DOI:10.1002/stem.3388.
[7] 张强,侯丹杰,陈广生,等.Calretinin、S100免疫组化染色及二者联合检测在新生儿先天性巨结肠诊断中的应用价值研究[J].现代消化及介入诊疗,2020,25(10):1363-1366.DOI:10.3969/j.issn.1672-2159.2020.10.022. Zhang Q,Hou DJ,Chen GS,et al.Application of Calretinin,S100 immunohistochemical staining and their combined detection in the diagnosis of Hirschsprung’s disease in neonates[J].Mod Interv Diagn Treat Gastroenterol,2020,25(10):1363-1366.DOI:10.3969/j.issn.1672-2159.2020.10.022.
[8] 谢华,唐维兵.规范、统一先天性巨结肠分型的建议[J].临床小儿外科杂志,2021,20(3):212-216.DOI:10.12260/lcxewkzz.2021.03.003. Xie H,Tang WB.Unifying the classification of Hirschsprung’s disease[J].J Clin Ped Sur,2021,20(3):212-216.DOI:10.12260/lcxewkzz.2021.03.003.
[9] O’Connor LM,O’Connor BA,Lim SB,et al.Integrative multi-omi-cs and systems bioinformatics in translational neuroscience:a data mining perspective[J].J Pharm Anal,2023,13(8):836-850.DOI:10.1016/j.jpha.2023.06.011.
[10] Klein M,Varga I.Hirschsprung’s disease-recent understanding of embryonic aspects,etiopathogenesis and future treatment avenues[J].Medicina (Kaunas),2020,56(11):611.DOI:10.3390/medicina56110611.
[11] 王泰垚,郑丽飞.先天性巨结肠的易感基因及表观遗传调控的研究进展[J].基础医学与临床,2023,43(4):700-705.DOI:10.16352/j.issn.1001-6325.2023.04.0700. Wang TY,Zheng LF.Advance in susceptibility genes and epigenetic regulation in Hirschsprung’s disease[J].Basic Clin Med,2023,43(4):700-705.DOI:10.16352/j.issn.1001-6325.2023.04.0700.
[12] 庞文帅,马建苏,刘晓丽,等.先天性巨结肠患儿不同肠管中SOX-2、SOX-10、GDNF的表达及其临床意义[J].中国现代医学杂志,2021,31(19):14-18.DOI:10.3969/j.issn.1005-8982.2021.19.003. Pang WS,Ma JS,Liu XL,et al.Expression and significance of SOX-2,SOX-10 and GDNF in different intestines of children with congenital megacolon[J].China J Mod Med,2021,31(19):14-18.DOI:10.3969/j.issn.1005-8982.2021.19.003.
[13] 傅润熹,王阳,蔡威.DLL3基因遗传多态性与先天性巨结肠易感性的相关性分析[J].临床小儿外科杂志,2023,22(4):351-355.DOI:10.3760/cma.j.cn101785-202203030-010. Fu RX,Wang Y,Cai W.Association study of delta-ligand 3(DLL3) gene with the susceptibility of Hirschsprung’s disease [J].J Clin Ped Sur,2023,22(4):351-355.DOI:10.3760/cma.j.cn101785-202203030-010.
[14] Chatterjee S,Karasaki KM,Fries LE,et al.A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease[J].Genome Res,2021,31(12):2199-2208.DOI:10.1101/gr.275667.121.
[15] Villalba-Benito L,Torroglosa A,Luz�鮪-Toro B,et al.ChIP-seq-based approach in mouse enteric precursor cells reveals new potential genes with a role in enteric nervous system development and hirschsprung disease[J].Int J Mol Sci,2020,21(23):9061.DOI:10.3390/ijms21239061.
[16] Tang CSM,Li P,Lai FPL,et al.Identification of genes associated with Hirschsprung disease,based on whole-genome sequence analysis,and potential effects on enteric nervous system development[J].Gastroenterology,2018,155(6):1908-1922.e5.DOI:10.1053/j.gastro.2018.09.012.
[17] Gui HS,Schriemer D,Cheng WW,et al.Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes[J].Genome Biol,2017,18(1):48.DOI:10.1186/s13059-017-1174-6.
[18] Tang CS,Zhuang XH,Lam WY,et al.Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing[J].Eur J Hum Genet,2018,26(6):818-826.DOI:10.1038/s41431-018-0129-z.
[19] Le TL,Galmiche L,Levy J,et al.Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans[J].J Clin Invest,2021,131(6):e145837.DOI:10.1172/JCI145837.
[20] Meng XY,Wang J,Zhu TQ,et al.Long-term outcomes of single-incision laparoscopic technique in Soave procedure compared with heart-shaped anastomosis for Hirschsprung disease[J].Int J Colorectal Dis,2020,35(6):1049-1054.DOI:10.1007/s00384-020-03565-3.
[21] 张文果,王大佳,张志波,等.第二代测序技术在先天性巨结肠症家系致病基因筛查中的应用[J].中华小儿外科杂志,2018,39(6):434-439.DOI:10.3760/cma.j.issn.0253-3006.2018.06.007. Zhang WG,Wang DJ,Zhang ZB,et al.Next generation sequencing technology for detecting a new RET gene mutation in two families of Hirschsprung’s disease[J].Chin J Pediatr Surg,2018,39(6):434-439.DOI:10.3760/cma.j.issn.0253-3006.2018.06.007.
[22] 王大佳,张志波,白玉作.巨结肠家系RET基因突变功能研究[J].中华小儿外科杂志,2023,44(8):676-682.DOI:10.3760/cma.j.cn421158-20221107-00670. Wang DJ,Zhang ZB,Bai YZ.Functional study of a novel RET mutation in a Hirschsprung disease family[J].Chin J Pediatr Surg,2023,44(8):676-682.DOI:10.3760/cma.j.cn421158-20221107-00670.
[23] 丁辉阳,雷雯,许露,等.先天性巨结肠家系EDNRB基因重复突变1例报道并文献复习[J].国际医药卫生导报,2023,29(17):2381-2386.DOI:10.3760/cma.j.issn.1007-1245.2023.17.004. Ding HY,Lei W,Xu L,et al.Identification of a novel heterozygous mutation in EDNRB in a Chinese family with Hirschsprung’s disease:one case report with a literature review[J].Int Med Health Guid News,2023,29(17):2381-2386.DOI:10.3760/cma.j.issn.1007-1245.2023.17.004.
[24] Emison ES,Garcia-Barcelo M,Grice EA,et al.Differential contributions of rare and common,coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability[J].Am J Hum Genet,2010,87(1):60-74.DOI:10.1016/j.ajhg.2010.06.007.
[25] Wu Q,Zhao JL,Zheng Y,et al.Associations between common genetic variants in microRNAs and Hirschsprung disease susceptibility in Southern Chinese children[J].J Gene Med,2021,23(2):e3301.DOI:10.1002/jgm.3301.
[26] Tang CSM,Karim A,Zhong YX,et al.Genetics of Hirschsprung’s disease[J].Pediatr Surg Int,2023,39(1):104.DOI:10.1007/s00383-022-05358-x.
[27] Fadista J,Lund M,Skotte L,et al.Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus[J].Eur J Hum Genet,2018,26(4):561-569.DOI:10.1038/s41431-017-0053-7.
[28] Soret R,Schneider S,Bernas G,et al.Glial cell-derived neurotrophic factor induces enteric neurogenesis and improves colon structure and function in mouse models of Hirschsprung disease[J].Gastroenterology,2020,159(5):1824-1838.e17.DOI:10.1053/j.gastro.2020.07.018.
[29] Watanabe Y,Stanchina L,Lecerf L,et al.Differentiation of mouse enteric nervous system progenitor cells is controlled by endothelin 3 and requires regulation of Ednrb by SOX10 and ZEB2[J].Gastroenterology,2017,152(5):1139-1150.e4.DOI:10.1053/j.gastro.2016.12.034.
[30] Chatterjee S,Fries LE,Yaacov O,et al.RET enhancer haplotype-dependent remodeling of the human fetal gut development program[J].PLoS Genet,2023,19(11):e1011030.DOI:10.1371/journal.pgen.1011030.
[31] 彭雪妮,沈淳.先天性巨结肠转录组学研究进展[J].中华小儿外科杂志,2019,40(6):567-573.DOI:10.3760/cma.j.issn.0253-3006.2019.06.019. Peng XN,Shen C.Research advances in transcriptomics of Hirschsprung’s disease[J].Chin J Pediatr Surg,2019,40(6):567-573.DOI:10.3760/cma.j.issn.0253-3006.2019.06.019.
[32] Yang QW,Wang FW,Wang ZF,et al.mRNA sequencing provides new insights into the pathogenesis of Hirschsprung’s disease in mice[J].Pediatr Surg Int,2023,39(1):268.DOI:10.1007/s00383-023-05544-5.
[33] Pan WK,Zhang YF,Yu H,et al.Identifying key genes associated with Hirschsprung’s disease based on bioinformatics analysis of RNA-sequencing data[J].World J Pediatr,2017,13(3):267-273.DOI:10.1007/s12519-017-0002-0.
[34] Shen ZY,Peng L,Zhu ZX,et al.Downregulated expression of long non-coding RNA LOC101926975 impairs both cell proliferation and cell cycle and its clinical implication in Hirschsprung disease patients[J].Int J Med Sci,2016,13(4):292-297.DOI:10.7150/ijms.14187.
[35] Shen Z,Du C,Zang R,et al.Microarray expression profiling of dysregulated long non-coding RNAs in Hirschsprung’s disease reveals their potential role in molecular diagnosis[J].Neurogastroenterol Motil,2016,28(2):266-273.DOI:10.1111/nmo.12722.
[36] Huang SG,Cheng Y,Li DS,et al.Systematic screen of potential circular RNA biomarkers of Hirschsprung’s disease[J].Transl Pediatr,2022,11(1):10-19.DOI:10.21037/tp-21-392.
[37] 张嘉杰,刘俊,王建峰,等.先天性巨结肠血浆外泌体分子生物学及生物信息分析的初步研究[J].中华小儿外科杂志,2022,43(7):651-656.DOI:10.3760/cma.j.cn421158-20220309-00155. Zhang JJ,Liu J,Wang JF,et al.Molecular biology and bioinformatics of plasma exosomes in Hirschsprung’s disease[J].Chin J Pediatr Surg,2022,43(7):651-656.DOI:10.3760/cma.j.cn421158-20220309-00155.
[38] Lan CT,Wu YX,Liu YQ,et al.Establishment and identification of an animal model of Hirschsprung disease in suckling mice[J].Pediatr Res,2023,94(6):1935-1941.DOI:10.1038/s41390-023-02728-6.
[39] Kuil LE,Kakiailatu NJM,Windster JD,et al.Unbiased characterization of the larval zebrafish enteric nervous system at a single cell transcriptomic level[J].iScience,2023,26(7):107070.DOI:10.1016/j.isci.2023.107070.
[40] Haas R,Zelezniak A,Iacovacci J,et al.Designing and interpreting ’multi-omic’ experiments that may change our understanding of biology[J].Curr Opin Syst Biol,2017,6:37-45.DOI:10.1016/j.coisb.2017.08.009.
[41] 李林,邓娜,张博,等.多组学技术及其在食品研究中的应用[J].食品与机械,2023,39(2):17-24.DOI:10.13652/j.spjx.1003.5788.2022.80785. Li L,Deng N,Zhang B,et al.Advances of multi-omics and its researches in food[J].Food & Machinery,2023,39(2):17-24.DOI:10.13652/j.spjx.1003.5788.2022.80785.
[42] Gao H,He XJ,Wu M,et al.Proteomic analysis of differentially expressed proteins between stenotic and normal colon segment tissues derived from patients with Hirschsprung’s disease[J].Protein J,2011,30(2):138-142.DOI:10.1007/s10930-011-9314-4.
[43] Gao H,Liu XM,Chen D,et al.Comparative study of Hsp27,GSK3β,Wnt1 and PRDX3 in Hirschsprung’s disease[J].Int J Exp Pathol,2014,95(3):229-237.DOI:10.1111/iep.12075.
[44] Fan Y,Wang LL,Zhang Y,et al.Comparative proteomics of Hirschsprung’s disease[J].J Proteomics,2013,84:176-184.DOI:10.1016/j.jprot.2013.03.024.
[45] Torroglosa A,Villalba-Benito L,Luzón-Toro B,et al.Epigenetic mechanisms in Hirschsprung disease[J].Int J Mol Sci,2019,20(13):3123.DOI:10.3390/ijms20133123.
[46] 黄露,刘远梅,金祝,等.MEG3启动子甲基化在先天性巨结肠发病机制中的作用[J].中华小儿外科杂志,2020,41(12):1106-1112.DOI:10.3760/cma.j.cn421158-20190827-00520. Huang L,Liu YM,Jin Z,et al.Role of MEG3 promoter methylation in the pathogenesis of Hirschsprung’s disease[J].Chin J Pediatr Surg,2020,41(12):1106-1112.DOI:10.3760/cma.j.cn421158-20190827-00520.