Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis

Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis
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DOI：
10.1097/01.mpa.0000160960.21580.ml
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发表时间：
2005-05-01
期刊：
PANCREAS
影响因子：
2.9
通讯作者：
Funakoshi, A
Funakoshi, A
中科院分区：
医学4区
文献类型：
--
作者：
Miyasaka, K;Ohta, M;Funakoshi, A

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目的：酒精滥用导致人类胰腺损伤。然而，只有5%的酒精中毒患者有胰腺炎的临床表现，酒精相关性胰腺炎的遗传易感性仍然难以捉摸。乙醇的非氧化代谢产物脂肪酸乙酯（FAEEs）可能在胰腺损伤中起重要作用。已知羧酸酯脂肪酶（CEL）催化脂肪酸和乙醇合成FAEE。在酒精性胰腺炎患者（n = 100）、无胰腺炎的酒精性胰腺炎患者（n = 52）、非酒精性胰腺炎患者（n = 50）、结果：酒精性胰腺炎患者NN-型（野生型）基因频率显著低于其他组。酒精性胰腺炎患者中L等位基因的频率显著高于其他组。CEL基因多态性的分布在对照组、无胰腺炎的酗酒者、非酒精性胰腺炎患者和高脂血症患者之间没有差异。结论：CEL基因多态性，尤其是L等位基因频率的增加，与酒精性胰腺炎有关。
Objectives: Alcohol abuse causes pancreatic damage in humans. However, only 5% of alcoholic patients have a clinical manifestation of pancreatitis, and the genetic predisposition of alcohol-associated pancreatitis remains elusive. Nonoxidative metabolites of ethanol, fatty acid ethyl esters (FAEEs), might play an important role in pancreatic damage. Carboxylester lipase (CEL) has been known to catalyze FAEE synthesis from fatty acids and ethanol.Methods: The variable number of tandem repeat ( VNTR) polymorphism in the coding region of the CEL gene was studied in patients with alcoholic pancreatitis (n = 100), in alcoholics without pancreatitis ( n = 52), in patients with nonalcoholic pancreatitis ( n = 50), in hyperlipidemia patients ( n = 96), and control subjects ( n = 435).Results: The frequency of the NN-type (wild-type) gene was significantly decreased in patients with alcoholic pancreatitis than in other groups. The frequency of subjects who had the L allele in patients with alcoholic pancreatitis was significantly higher than in other groups. The distribution of the CEL gene polymorphism was not different among the control subjects, alcoholics without pancreatitis, patients with nonalcoholic pancreatitis, and patients with hyperlipidemia.Conclusions: The CEL gene polymorphism, especially an increase in the frequency of the L allele, was found to be associated with alcohol-induced pancreatitis.