Chang Yu-Ting, Chang Ming-Chu, Su Ta-Chen, Liang Po-Chin, Su Yi-Ning, Kuo Chun-Hung, Wei Shu-Chen, Wong Jau-Min
Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
J Clin Gastroenterol. 2009 Jul;43(6):591-6. doi: 10.1097/MCG.0b013e3181734a30.
The factors that whether and how genes involving lipid metabolism including lipoprotein lipase (LPL) and apolipoprotein CII (apo CII) influence occurrence of acute attack of pancreatitis and chronic pancreatitis is not clear.
The aim of this study was to determine the association of LPL and apo CII genes with acute attack of pancreatitis and chronic pancreatitis in patients with hyperlipidemic pancreatitis (HLP) and hypertriglyceridemia (HTG).
We performed genetic analysis of 134 patients in Taiwan with HTG (53 with HLP and 81 without HLP). The entire coding and intronic regions of the LPL and apo CII genes were identified with heteroduplex analytical techniques or high resolution melting analysis. All mutations were confirmed by sequencing analysis. Correlation of phenotype and genotype was also analyzed.
The frequency of LPL gene mutation rates in HLP patients (17.0%, 9 of 53) was significantly higher than that without HLP attack (4.9%, 4 of 81) (P<0.0001). A total of 10.4% (14 of 134) of our HTG patients carried LPL or apo CII mutation. The most common LPL gene mutation was S447X. There is a high prevalence (77.8%) of HLP attack in HTG patients carrying S447X mutation. Multivariate analysis in HLP patients indicated that the presence of LPL mutation and episode of acute attack were independent risks for pancreatic calcification and steatorrhea.
This is the first complete genetic study analyzing the association of LPL and apo CII mutation in a HLP population. LPL S447X mutation is associated with a higher risk of pancreatic calcification and steatorrhea than those previously known factors in HLP patients.
包括脂蛋白脂肪酶（LPL）和载脂蛋白CII（apo CII）在内的参与脂质代谢的基因是否以及如何影响胰腺炎急性发作和慢性胰腺炎的发生尚不清楚。
本研究旨在确定高脂血症性胰腺炎（HLP）和高甘油三酯血症（HTG）患者中LPL和apo CII基因与胰腺炎急性发作和慢性胰腺炎的相关性。
我们对台湾134例HTG患者（53例HLP患者和81例非HLP患者）进行了基因分析。采用异源双链分析技术或高分辨率熔解分析鉴定LPL和apo CII基因的整个编码区和内含子区。所有突变均经测序分析证实。还分析了表型与基因型的相关性。
HLP患者中LPL基因突变率（17.0%，53例中的9例）显著高于无HLP发作患者（4.9%，81例中的4例）（P<0.0001）。我们的HTG患者中共有10.4%（134例中的14例）携带LPL或apo CII突变。最常见的LPL基因突变是S447X。携带S447X突变的HTG患者中HLP发作的患病率很高（77.8%）。HLP患者的多变量分析表明，LPL突变的存在和急性发作是胰腺钙化和脂肪泻的独立危险因素。
这是第一项分析HLP人群中LPL和apo CII突变相关性的完整基因研究。与HLP患者先前已知的因素相比，LPL S447X突变与胰腺钙化和脂肪泻的风险更高相关。
