Mutation Analysis of SPINK1 and CFTR Gene in Korean Patients with Alcoholic Chronic Pancreatitis

2005 ◽  
Vol 50 (10) ◽  
pp. 1852-1856 ◽  
Author(s):  
Kwang Hyuck Lee ◽  
Ji Kon Ryu ◽  
Won Jae Yoon ◽  
Jun Kyu Lee ◽  
Yong-tae Kim ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Mutation Analysis ◽  
Cftr Gene ◽  
Korean Patients ◽  
Alcoholic Chronic Pancreatitis

Polymorphisms of the MCP-1 and HSP70-2 Genes in Korean Patients with Alcoholic Chronic Pancreatitis

2007 ◽  
Vol 53 (6) ◽  
pp. 1721-1727 ◽  
Author(s):  
Sang Hyub Lee ◽  
Ji Kon Ryu ◽  
Ji Bong Jeong ◽  
Kyeung-Yeup Lee ◽  
Sang Myung Woo ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Korean Patients ◽  
Alcoholic Chronic Pancreatitis

scholarly journals Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese

2015 ◽  
Vol 309 (4) ◽  
pp. G260-G269 ◽  
Author(s):  
Shiho Kondo ◽  
Kotoyo Fujiki ◽  
Shigeru B. H. Ko ◽  
Akiko Yamamoto ◽  
Miyuki Nakakuki ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Chronic Pancreatitis ◽  
Normal Subjects ◽  
Cftr Gene ◽  
Xenopus Laevis Oocytes ◽  
Transport Activity ◽  
Coding Region ◽  
Functional Characteristics ◽  
Alcoholic Chronic Pancreatitis ◽  
Exchange Activity

Although cystic fibrosis is rare in Japanese, measurement of sweat Cl− has suggested mild dysfunction of cystic fibrosis transmembrane conductance regulator (CFTR) in some patients with chronic pancreatitis. In the present study, we have investigated the association of CFTR variants and chronic pancreatitis in Japanese and the functional characteristics of a Japanese- and pancreatitis-specific CFTR variant, L1156F. Seventy patients with alcoholic chronic pancreatitis, 18 patients with idiopathic chronic pancreatitis, and 180 normal subjects participated. All exons and their boundaries and promoter region of the CFTR gene were sequenced. Human embryonic kidney-293 cells were transfected with three CFTR variants (M470V, L1156F, and M470V+L1156F), and the protein expression was examined. Xenopus laevis oocytes were injected with the CFTR variants, and bicarbonate (HCO3−) transport activity was examined. CFPAC-1 cells were transfected with the CFTR variants and Cl−/HCO3− exchange activity was examined. Six variants (E217G, I556V, M470V, L1156F, Q1352H, and R1453W) were identified in the coding region of the CFTR gene. Cystic fibrosis-causing mutations were not found. The allele frequencies of L1156F and Q1352H in alcoholic chronic pancreatitis (5.0 and 7.9%) were significantly ( P < 0.01) higher than those in normal subjects (0.6 and 1.9%). L1156F was linked with a worldwide CFTR variant, M470V. Combination of M470V and L1156F significantly reduced CFTR expression to ∼60%, impaired CFTR-mediated HCO3−/Cl− transport activity to 50–60%, and impaired CFTR-coupled Cl−/HCO3− exchange activity to 20–30%. The data suggest that the Japanese-specific CFTR variant L1156F causes mild dysfunction of CFTR and increases the risk of alcoholic chronic pancreatitis in Japanese.

Prevalence of CFTR gene metations in patients with idiopathic chronic pancreatitis

2001 ◽  
Vol 120 (5) ◽  
pp. A646-A646
Author(s):  
F MAIRE ◽  
T BIENVENU ◽  
C AQUAVIVA ◽  
F TRIVIN ◽  
P LEVY
Keyword(s):  
Chronic Pancreatitis ◽  
Cftr Gene ◽  
Idiopathic Chronic Pancreatitis

scholarly journals Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis

PLoS ONE ◽  
2016 ◽  
Vol 11 (11) ◽  
pp. e0165567 ◽  
Author(s):  
Karianne Fjeld ◽  
Sebastian Beer ◽  
Marianne Johnstone ◽  
Constantin Zimmer ◽  
Joachim Mössner ◽  
...  
Keyword(s):  
Liver Cirrhosis ◽  
Chronic Pancreatitis ◽  
Tandem Repeats ◽  
Alcoholic Liver Cirrhosis ◽  
Alcoholic Chronic Pancreatitis

Analysis of risk factors for pancreatic duct stones formation in patients with alcoholic chronic pancreatitis

Pancreatology ◽  
2014 ◽  
Vol 14 (2) ◽  
pp. 109-113 ◽  
Author(s):  
Guo-wei Zhang ◽  
Jian-hua Lin ◽  
Jian-ping Qian ◽  
Jie Zhou
Keyword(s):  
Risk Factors ◽  
Chronic Pancreatitis ◽  
Pancreatic Duct ◽  
Alcoholic Chronic Pancreatitis ◽  
Pancreatic Duct Stones

scholarly journals Mutation Analysis of SPG4 and SPG3A Genes and Its Implication in Molecular Diagnosis of Korean Patients With Hereditary Spastic Paraplegia

2005 ◽  
Vol 62 (7) ◽  
pp. 1118 ◽  
Author(s):  
Su-Yon Park ◽  
Chang-Seok Ki ◽  
Hee-Jin Kim ◽  
Jong-Won Kim ◽  
Duk Hyun Sung ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Mutation Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Korean Patients
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