Literature DB >> 19407484

Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan.

Ming-Chu Chang1, Yu-Ting Chang, Shu-Chen Wei, Po-Chin Liang, I-Shiow Jan, Yi-Ning Su, Chun-Hung Kuo, Jau-Min Wong.   

Abstract

BACKGROUND/AIMS: Variations and haplotypes of the chymotrypsin C (CTRC) gene in Chinese patients with chronic pancreatitis (CP) and control subjects with genotype-phenotype correlation were investigated.
METHODS: One hundred and twenty-six patients with CP were analyzed. The entire sequence of coding regions of exons 2, 3 and 7 and their neighboring intronic regions in introns 1, 2 and 6 of the CTRC gene were analyzed using PCR sequence-specific primers and direct sequencing. The exonic region of exon 7 and the neighboring intronic region of intron 6 were also analyzed in 90 geographically matched healthy control subjects.
RESULTS: In total, 4 novel variations were identified in exons 2, 3 and 7 in 3 CP patients. A total of 2.3% (3/126) of our CP patients carried variations of the CTRC gene. We also first identified six new intronic variations in intron 6 which had not been reported before. The GAGGGG, GAGGAG and GAGTAG haplotypes assembled by six locus intronic variations c.640-41/c.640-40/c.640-39/c.640-37/c.640-36/c.640-35 in intron 6 were associated with a significantly higher susceptibility risk of CP (OR 66.75, 37.00, and 9.37, respectively).
CONCLUSION: Novel CTRC gene variations and haplotypes are associated with CP in a Chinese population. (c) 2009 S. Karger AG, Basel.

Entities:  

Mesh:

Substances:

Year:  2009        PMID: 19407484     DOI: 10.1159/000199437

Source DB:  PubMed          Journal:  Pancreatology        ISSN: 1424-3903            Impact factor:   3.996


  9 in total

Review 1.  Chymotrypsin C mutations in chronic pancreatitis.

Authors:  Jiayi Zhou; Miklós Sahin-Tóth
Journal:  J Gastroenterol Hepatol       Date:  2011-08       Impact factor: 4.029

Review 2.  Genetic risk factors for pancreatic disorders.

Authors:  David C Whitcomb
Journal:  Gastroenterology       Date:  2013-06       Impact factor: 22.682

3.  Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Authors:  Sebastian Beer; Jiayi Zhou; András Szabó; Steven Keiles; Giriraj Ratan Chandak; Heiko Witt; Miklós Sahin-Tóth
Journal:  Gut       Date:  2012-09-01       Impact factor: 23.059

4.  Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry.

Authors:  Anna Evans Phillips; Jessica LaRusch; Phil Greer; Judah Abberbock; Samer Alkaade; Stephen T Amann; Michelle A Anderson; John Baillie; Peter A Banks; Randall E Brand; Darwin Conwell; Gregory A Coté; Christopher E Forsmark; Timothy B Gardner; Andres Gelrud; Nalini Guda; Michele Lewis; Mary E Money; Thiruvengadam Muniraj; Bimaljit S Sandhu; Stuart Sherman; Vikesh K Singh; Adam Slivka; Gong Tang; C Mel Wilcox; David C Whitcomb; Dhiraj Yadav
Journal:  Pancreatology       Date:  2018-05-19       Impact factor: 3.996

Review 5.  Genetic risk for alcoholic chronic pancreatitis.

Authors:  Marianges Zadrozny Gouvêa da Costa; Dulce Reis Guarita; Suzane Kioko Ono-Nita; Denise Cerqueira Paranaguá-Vezozzo; Guilherme Eduardo Gonçalves Felga; Martha Regina Arcon Pedroso; Marcelo Moreira Tavares de Souza; Paulo Dominguez Nasser; Camila da Silva Ferreira; Flair José Carrilho
Journal:  Int J Environ Res Public Health       Date:  2011-06-30       Impact factor: 3.390

6.  The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.

Authors:  Jessica LaRusch; Antonio Lozano-Leon; Kimberly Stello; Amanda Moore; Venkata Muddana; Michael O'Connell; Brenda Diergaarde; Dhiraj Yadav; David C Whitcomb
Journal:  Clin Transl Gastroenterol       Date:  2015-01-08       Impact factor: 4.488

7.  Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.

Authors:  Wei Wang; Xiao-Tian Sun; Xiao-Ling Weng; Dai-Zhan Zhou; Chang Sun; Tian Xia; Liang-Hao Hu; Xiao-Wei Lai; Bo Ye; Mu-Yun Liu; Fei Jiang; Jun Gao; Lu-Min Bo; Yun Liu; Zhuan Liao; Zhao-Shen Li
Journal:  BMJ Open       Date:  2013-09-03       Impact factor: 2.692

8.  The genetic predisposition and its impact on the diabetes mellitus development in patients with alcoholic chronic pancreatitis.

Authors:  Agnieszka Madro; Marzanna Ciesielka; Krzysztof Celinski; Maria Slomka; Grazyna Czechowska; Jacek Kurzepa; Beata Kaszelan-Szczerbinska; Grzegorz Buszewicz; Roman Madro
Journal:  Gastroenterol Res Pract       Date:  2015-03-09       Impact factor: 2.260

Review 9.  Hereditary pancreatitis: current perspectives.

Authors:  Kara L Raphael; Field F Willingham
Journal:  Clin Exp Gastroenterol       Date:  2016-07-26
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.