Τίτλος:
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Tzetis, M.
Kaliakatsos, M.
Fotoulaki, B.
Papatheodorou, A.
Doudounakis, S.
Tsezou, A.
Makrythanasis, P.
Kanavakis, E.
Nousia-arvanitakis, S.
Περιοδικό:
Application of Clinical Genetics
Λέξεις-κλειδιά:
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
DOI:
10.1111/j.1399-0004.2007.00788.x
