CFTR Polymorphisms in Patients with Alcoholic Chronic Pancreatitis

被引:10
作者
Gouvea da Costa, Marianges Zadrozny [1 ]
Guarita, Dulce Reis [1 ]
Ono-Nita, Suzane Kioko [1 ]
Nogueira, Jeronimo de Alencar [1 ]
Nita, Marcelo Eidi [1 ]
Paranagua-Vezozzo, Denise Cerqueira [1 ]
de Souza, Marcelo Tavares [1 ]
do Carmo, Eliane Pereira [1 ]
de Sa Teixeira, Ana Cristina [1 ]
Carrilho, Flair Jose [1 ]
机构
[1] Univ Sao Paulo, Sch Med, Dept Gastroenterol, BR-05403000 Sao Paulo, Brazil
基金
巴西圣保罗研究基金会;
关键词
Pancreatitis/genetics; Cystic fibrosis transmembrane conductance regulator; Polymorphisms; Alcoholism; CYSTIC-FIBROSIS GENE; SERINE-PROTEASE INHIBITOR; JAPANESE MALE ALCOHOLICS; TYPE-1; SPINK1; GENE; MUTATION ANALYSIS; KAZAL TYPE-1; DISEASE; CANCER; ASSOCIATION; MANAGEMENT;
D O I
10.1159/000178889
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Introduction: Pancreas susceptibility to alcohol is variable and only 5-10% of chronic alcohol abusers develop chronic pancreatitis; the role of genetic factors in this process is unknown. The CFTR gene encodes a protein that acts on epithelial cells and plays a key role in normal exocrine pancreatic function. Methods: This study investigated the frequency of polymorphisms in intron 8 of the CFTR gene in patients with alcoholic chronic pancreatitis. Three groups of patients were studied: group A-68 adult alcoholics with a diagnosis of chronic pancreatitis; group B-68 adult alcoholics without pancreatic disease or liver cirrhosis and group C-104 healthy nonalcoholic adults. Results: T5/T7 genotype was more frequent in group A (11.8%) than in group B (2.9%) (p = 0.0481), and there was no statistical difference when groups A and C (5.8%) were compared (p = 0.1317). The haplotype combination (TG) 10-T7/(TG) 11-T7 was more frequent in groups B (23.5%) and C (20.2%) than in group A (7.3%) (p = 0.0080 and 0.0162). Conclusion: There are differences when these three groups are compared and individuals with T5/T7 genotype might have a greater risk of developing chronic pancreatitis when they become chronic alcoholics. Copyright (C) 2008 S. Karger AG, Basel and IAP
引用
收藏
页码:173 / 181
页数:9
相关论文
共 41 条
[1]  
Ammann RW, 2006, SWISS MED WKLY, V136, P166
[2]   Polymorphism of cytokine genes (TGF-β1, IFN-γ, IL-6, IL-10, and TNF-α) in patients with chronic pancreatitis [J].
Bendicho, MT ;
Guedes, JC ;
Silva, NN ;
Santana, GO ;
dos Santos, RR ;
Lyra, AC ;
Lyra, LG ;
Meyer, R ;
Lemaire, DC .
PANCREAS, 2005, 30 (04) :333-336
[3]  
Bernardino Andrea L Ferreira, 2003, JOP, V4, P169
[4]   Current insights into the pathogenesis of acute and chronic pancreatitis [J].
Bruno, MJ .
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY, 2001, 36 :103-108
[5]   Key concepts in genetic epidemiology [J].
Burton, PR ;
Tobin, MD ;
Hopper, JL .
LANCET, 2005, 366 (9489) :941-951
[6]  
Buscail L, 2003, GASTROEN CLIN BIOL, V27, P391
[7]   Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis? [J].
Casals, T ;
Aparisi, L ;
Martínez-Costa, C ;
Giménez, J ;
Ramos, MD ;
Mora, J ;
Diaz, J ;
Boadas, J ;
Estivill, X ;
Farré, A .
PANCREAS, 2004, 28 (04) :374-379
[8]   Genetic polymorphism of alcohol dehydrogenase 3 in alcohol liver cirrhosis and in alcohol chronic pancreatitis [J].
Cichoz-Lach, H ;
Partycka, J ;
Nesina, I ;
Celinski, K ;
Slomka, M ;
Wojcierowski, J .
ALCOHOL AND ALCOHOLISM, 2006, 41 (01) :14-17
[9]   The role of cystic fibrosis gene mutations in determining susceptibility to chronic pancreatitis [J].
Cohn, JA ;
Mitchell, RM ;
Jowell, PS .
GASTROENTEROLOGY CLINICS OF NORTH AMERICA, 2004, 33 (04) :817-+
[10]   Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes - The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation [J].
Cuppens, H ;
Lin, W ;
Jaspers, M ;
Costes, B ;
Teng, H ;
Vankeerberghen, A ;
Jorissen, M ;
Droogmans, G ;
Reynaert, I ;
Goossens, M ;
Nilius, B ;
Cassiman, JJ .
JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (02) :487-496