Cystic fibrosis genotypes and alcoholic pancreatitis
Cystic fibrosis genotypes and alcoholic pancreatitis
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囊性纤维化基因型和酒精性胰腺炎
DOI：
10.1111/j.1440-1746.1998.tb00675.x
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发表时间：
1998
影响因子：
4.1
通讯作者：
Jeremy S. Wilson
中科院分区：
文献类型：
--
作者：
I. Norton;M. Apte;H. Dixson;R. Trent;P. Haber;R. Pirola;Jeremy S. Wilson
胰腺炎和胰腺功能不全与囊性纤维化和酒精中毒有关。酒精性胰腺炎的发病机制尚不清楚，但只有少数酗酒者会发展为胰腺炎，并且已经表明遗传易感性可能在这种疾病中发挥作用。两个观察结果导致了这样的假设，即这种遗传易感性可能是由囊性纤维化基因突变引起的。首先，高加索人群中囊性纤维化突变的患病率（约5%）与重度饮酒者中胰腺炎的患病率相似。其次，在这两种疾病中，胰管损伤是一个突出的特点，并已被假定为最初的损伤部位。因此，本研究的目的是确定酒精性胰腺炎是否发生囊性纤维化基因突变频率增加。在24例酒精性胰腺炎受试者中寻找高加索人群中15种最常见的囊性纤维化突变。这些突变均为纯合子或杂合子。这些发现表明囊性纤维化突变不是酗酒者胰腺损伤的主要遗传因素。
Pancreatitis and pancreatic insufficiency are associated with both cystic fibrosis and alcoholism. The pathogenesis of alcoholic pancreatitis is unknown, but only a minority of alcoholics develop pancreatitis, and it has been suggested that a genetic predisposition may play a role in this disease. Two observations led to the hypothesis that this genetic predisposition could result from mutations in the cystic fibrosis gene. First, the prevalence of cystic fibrosis mutations in the Caucasian population (approximately 5%) is similar to the prevalence of pancreatitis among heavy drinkers. Second, in both diseases, pancreatic duct damage is a prominent feature and has been postulated to be the initial site of injury. Therefore, the aim of this study was to determine whether an increased frequency of mutations in the cystic fibrosis gene occurs in alcoholic pancreatitis. The 15 most common cystic fibrosis mutations in a Caucasian community were sought in 24 subjects with alcoholic pancreatitis. None were homozygous or heterozygous for these mutations. These findings suggest that cystic fibrosis mutations are not a major genetic factor predisposing to pancreatic injury in alcoholics.
影响因子：
9.8
作者：
P. Kristidis;D. Bozon;M. Corey;D. Markiewicz;J. Rommens;Lap-Chee Tsui;P. Durie
通讯作者：
P. Kristidis;D. Bozon;M. Corey;D. Markiewicz;J. Rommens;Lap-Chee Tsui;P. Durie