TY - JOUR
TI - Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
AU - Tzetis, M.
AU - Kaliakatsos, M.
AU - Fotoulaki, B.
AU - Papatheodorou, A.
AU - Doudounakis, S.
AU - Tsezou, A.
AU - Makrythanasis, P.
AU - Kanavakis, E.
AU - Nousia-arvanitakis, S.
JO - Application of Clinical Genetics
PY - 2007
VL - 71
TODO - 5
SP - 451-457
PB - 
SN - null
TODO - 10.1111/j.1399-0004.2007.00788.x
TODO - aprotinin;  transmembrane conductance regulator;  trypsinogen, adolescent;  adult;  article;  child;  chronic pancreatitis;  clinical article;  controlled study;  female;  gene mutation;  genetic association;  genetic screening;  genetic variability;  Greece;  haplotype;  heterozygosity;  high risk patient;  homozygote;  human;  male;  nucleotide sequence;  pathophysiology;  priority journal;  recurrent disease, Adolescent;  Adult;  Carrier Proteins;  Case-Control Studies;  Child;  Child, Preschool;  Cystic Fibrosis Transmembrane Conductance Regulator;  DNA Mutational Analysis;  Female;  Genetic Predisposition to Disease;  Humans;  Male;  Middle Aged;  Mutation;  Pancreatitis, Chronic;  Trypsinogen
TODO - Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area and neighboring intronic regions of the three genes were screened. Seventeen of 25 patients (68%) had mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: nine compound heterozygotes with either mild or severe mutations and eight heterozygotes. Four patients (16%) carried CFTR-modulating haplotypes V470-TG11-T5 and V470-TG12-T7. All were negative for PRSS1 gene mutations, while variants c.486C/T and c.738C/T were found in nine patients each, three homozygotes for the minor alleles. Two carried SPINK1 gene mutation p.N34S, one being transheterozygote with CFTR mutation p.F1052V. The promoter variant -253T>C was found in four individuals (one homozygous for the minor allele), all four being transheterozygotes with mutations in the CFTR gene as well. Finally two carried c.272C/T in the 3′ untranslated region, one being a p.N34S carrier as well. In total, 80% (20/25) of patients had a molecular defect in one or both of the CFTR and SPINK1 genes, suggesting that mutations/variants in the CFTR plus or minus mutations in the SPINK1, but not the PRSS1 gene, may confer a high risk for recurrent pancreatitis. © 2007 The Authors Journal compilation © 2007 Blackwell Munksgaard.
ER -