Associations of SLC6A20 genetic polymorphisms with Hirschsprung's disease in a Southern Chinese population

被引：0
作者：
Xie, Xiaoli [1 ]
He, Qiuming [1 ]
Huang, Lihua [1 ]
Li, Le [1 ]
Yao, Yuxiao [1 ]
Xia, Huimin [1 ]
Zhao, Jinglu [1 ]
Zhong, Wei [1 ]
Zhang, Yan [1 ]
机构：
[1] Guangzhou Med Univ, Guangzhou Inst Pediat, Dept Pediat Surg, Guangzhou Women & Childrens Med Ctr, Guangzhou 510623, Guangdong, Peoples R China
来源：
BIOSCIENCE REPORTS | 2019年 / 39卷
基金：
中国国家自然科学基金; 中国博士后科学基金;
关键词：
IDENTIFICATION; EXPRESSION; BOWEL; RET;
D O I：
10.1042/BSR20182290
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Hirschsprung's disease (HSCR) is a neurodevelopmental disorder characterized by the absence of nerves in intestine with strong genetic components. SLC6A20 was found to be associated with HSCR in Korean population waiting for replication in an independent cohort. In the present study, ten single nucleotide polymorphisms (SNPs) in the SLC6A20 were selected from Southern Chinese with 1470 HSCR cases and 1473 ethnically matched healthy controls. Our results indicated that SNP rs7640009 was associated with HSCR and SLC6A20 has a gene-dose effect in the extent of the aganglionic segment during enteric nervous system (ENS) development. It is the first time to reveal the relationship between SNP rs2191026 and HSCR-associated enterocolitis (HAEC) susceptibility.
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页数：9
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共 29 条
  • [11] Tension-dependent regulation of mammalian Hippo signaling through LIMD1
    Ibar, Consuelo
    Kirichenko, Elmira
    Keepers, Benjamin
    Enners, Edward
    Fleisch, Katelyn
    Irvine, Kenneth D.
    [J]. JOURNAL OF CELL SCIENCE, 2018, 131 (05)
  • [12] KIM JW, 2014, PLOS ONE, V9
  • [13] Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease
    Lee, Jin Sol
    Oh, Jung-Tak
    Kim, Jeong-Hyun
    Seo, Jeong-Meen
    Kim, Dae-Yeon
    Park, Kwi-Won
    Kim, Hyun-Young
    Jung, Kyuwhan
    Park, Byung Lae
    Koh, InSong
    Shin, Hyoung Doo
    [J]. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2016, 62 (01) : 64 - 70
  • [14] CDX2 increases SLC7A7 expression and proliferation of pig intestinal epithelial cells
    Li, Xiang-guang
    Xu, Gao-feng
    Zhai, Zhen-ya
    Gao, Chun-qi
    Yan, Hui-chao
    Xi, Qian-yun
    Guan, Wu-tai
    Wang, Song-bo
    Wang, Xiu-qi
    [J]. ONCOTARGET, 2016, 7 (21) : 30597 - 30609
  • [15] Nationwide Population-Based Epidemiologic Study of Hirschsprung's Disease in Taiwan
    Lin, Yu-Cheng
    [J]. PEDIATRICS AND NEONATOLOGY, 2016, 57 (03) : 165 - 166
  • [16] CDX-1 and CDX-2 are expressed in human colonic mucosa and are down-regulated in patients with Hirschsprung's disease associated enterocolitis
    Lui, VCH
    Li, L
    Sham, MH
    Tam, PKH
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2001, 1537 (02): : 89 - 100
  • [17] Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia
    Munakata, K
    Iwamoto, K
    Bundo, M
    Kato, T
    [J]. BIOLOGICAL PSYCHIATRY, 2005, 57 (05) : 525 - 532
  • [18] Nationwide survey of outcome in patients with extensive aganglionosis in Japan
    Obata, Satoshi
    Ieiri, Satoshi
    Akiyama, Takashi
    Urushihara, Naoto
    Kawahara, Hisayoshi
    Kubota, Masayuki
    Kono, Miyuki
    Nirasawa, Yuji
    Honda, Shohei
    Nio, Masaki
    Taguchi, Tomoaki
    [J]. PEDIATRIC SURGERY INTERNATIONAL, 2019, 35 (05) : 547 - 550
  • [19] Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes
    Raj, Towfique
    Rothamel, Katie
    Mostafavi, Sara
    Ye, Chun
    Lee, Mark N.
    Replogle, Joseph M.
    Feng, Ting
    Lee, Michelle
    Asinovski, Natasha
    Frohlich, Irene
    Imboywa, Selina
    Von Korff, Alina
    Okada, Yukinori
    Patsopoulos, Nikolaos A.
    Davis, Scott
    McCabe, Cristin
    Paik, Hyun-il
    Srivastava, Gyan P.
    Raychaudhuri, Soumya
    Hafler, David A.
    Koller, Daphne
    Regev, Aviv
    Hacohen, Nir
    Mathis, Diane
    Benoist, Christophe
    Stranger, Barbara E.
    De Jager, Philip L.
    [J]. SCIENCE, 2014, 344 (6183) : 519 - 523
  • [20] Coordinated Expression of Phosphoinositide Metabolic Genes during Development and Aging of Human Dorsolateral Prefrontal Cortex
    Rapoport, Stanley I.
    Primiani, Christopher T.
    Chen, Chuck T.
    Ahn, Kwangmi
    Ryan, Veronica H.
    [J]. PLOS ONE, 2015, 10 (07):
123