title: Genetic Susceptibility in Acute Pancreatitis: Genotyping of GSTM1, GSTT1, GSTP1, CASP7, CASP8, CASP9, CASP10, LTA, TNFRSF1B, and TP53 Gene Variants.
abstract: Genetic testing could play a critical role in diagnosis and prognosis of acute pancreatitis (AP) and guide effective therapeutic interventions. We hypothesized that genetic polymorphisms in apoptosis and oxidative stress genes could determine incidence or severity in AP.
  
  
  
  We conducted a hospital-based case-control study in a white Portuguese population (133 AP patients and 232 age- and sex-matched healthy controls) to evaluate the role of 15 gene polymorphisms (2 deletions and 13 single nucleotide polymorphisms [SNPs]) in oxidative stress (GSTM1, GSTT1, GSTP1) and apoptosis genes (CASP7, CASP8, CASP9, CASP10, LTA, TNFRSF1B, TP53) in AP. Criteria for AP were abdominal pain, hyperamylasemia, and contrast-enhanced computed tomography.
  
  
  
  The presence of GSTM1 is associated with increased susceptibility for AP, and the GSTP1 Val105Ile SNP is associated with an increased risk for AP in men. CASP9 Phe136Leu/Phe136Phe SNPs (heterozygotes) increases the risk for mild AP (odds ratio, 3.616; 95% confidence interval, 1.151-11.364; P < 0.05), whereas the homozygotic genotype of CASP9 Ala28Val decreases risk for mild AP (odds ratio, 0.296; 95% confidence interval, 0.091-0.963; P < 0.05).
  
  
  
  Our results suggest that variations in GSTM1, GSTP1, and CASP9 may influence risk for AP.
authors.affiliation: From the *Centro Hospitalar de Lisboa Central, Hospital Santo António dos Capuchos, Alameda de Santo António dos Capuchos; †NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa; and ‡Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.
authors.forename: Francisco
authors.initials: F
authors.lastname: Dʼ Oliveira Martins
authors.forename: Bruno Costa
authors.initials: BC
authors.lastname: Gomes
authors.forename: António Sebastião
authors.initials: AS
authors.lastname: Rodrigues
authors.forename: José
authors.initials: J
authors.lastname: Rueff
mesh_terms: D000208:Acute Disease; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D020169:Caspases / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010195:Pancreatitis / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011174:Portugal; D047889:Receptors, Tumor Necrosis Factor, Type II / Q000235:genetics; D012307:Risk Factors; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D007527:Isoenzymes; D047889:Receptors, Tumor Necrosis Factor, Type II; C415902:TNFRSF1B protein, human; D016159:Tumor Suppressor Protein p53; D005982:Glutathione Transferase; D020169:Caspases