Genetic mutations in a Spanish population with chronic pancreatitis.
OBJECTIVE
Mutations in the PRSS1 and the SPINK1 genes have variably been associated with alcohol-related, idiopathic and hereditary chronic pancreatitis (CP). The aim of this study was to determine for the first time the significance of PRSS1, SPINK1 mutations and genetic variants of AAT in a group of Spanish patients with CP.


METHODS
104 consecutive patients with CP were included, as well as 84 healthy control subjects. The R122H and N29I mutations in the PRSS1 gene, the N34S mutation in the SPINK1 gene and PiS and PiZ mutations in the AAT gene were analyzed by RFLP-PCR methods.


RESULTS
No R122H mutation was found in the PRSS1 gene, and N29I mutation was detected in 7.7% of CP patients. A N29I mutation was observed in 3.9% of patients with alcohol-related pancreatitis (ACP). A total of 5.8% of CP patients were identified with the N34S mutation. Genotype MS, SS and MZ were detected in 18.3, 3.8 and 1.3% of CP patients, respectively.


CONCLUSIONS
The percentage of N29I mutations in ACP patients was higher than that reported in other studies, while the percentage of N34S and AAT mutations in ACP and idiopathic CP patients was similar.
Mora
Josefina
J
Department of Clinical Chemistry, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. afarre@santpau.es
Comas
Laia
L
Ripoll
Elia
E
Gonçalves
Patricia
P
Queraltó
Josep M
JM
González-Sastre
Francesc
F
Farré
Antoni
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019512:Pancreatitis, Alcoholic / Q000235:genetics; D050500:Pancreatitis, Chronic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D013030:Spain; D014357:Trypsin / Q000235:genetics*; D014359:Trypsin Inhibitor, Kazal Pancreatic; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D002352:Carrier Proteins; C486642:SPINK1 protein, human; D000515:alpha 1-Antitrypsin; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin