In:
Clinical Genetics, Wiley, Vol. 71, No. 5 ( 2007-05), p. 451-457
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0009-9163
,
1399-0004
DOI:
10.1111/cge.2007.71.issue-5
DOI:
10.1111/j.1399-0004.2007.00788.x
Language:
English
Publisher:
Wiley
Publication Date:
2007
detail.hit.zdb_id:
2004581-5
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