title: Lipoprotein lipase mutation S447X associated with pancreatic calcification and steatorrhea in hyperlipidemic pancreatitis.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  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).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Yu-Ting
authors.initials: YT
authors.lastname: Chang
authors.forename: Ming-Chu
authors.initials: MC
authors.lastname: Chang
authors.forename: Ta-Chen
authors.initials: TC
authors.lastname: Su
authors.forename: Po-Chin
authors.initials: PC
authors.lastname: Liang
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.forename: Chun-Hung
authors.initials: CH
authors.lastname: Kuo
authors.forename: Shu-Chen
authors.initials: SC
authors.lastname: Wei
authors.forename: Jau-Min
authors.initials: JM
authors.lastname: Wong
mesh_terms: D000328:Adult; D053304:Apolipoprotein C-II / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics* / Q000473:pathology; D015228:Hypertriglyceridemia / Q000235:genetics / Q000473:pathology; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010179:Pancreas / Q000473:pathology; D010195:Pancreatitis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D045602:Steatorrhea / Q000235:genetics; D013624:Taiwan
chemical_list: D053304:Apolipoprotein C-II; D008071:Lipoprotein Lipase