Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients.
OBJECTIVE
To investigate simultaneously UGT1A7, UGT1A9, ARP, SPINK and CFTR genes to verify whether genetic polymorphisms predispose to the development of pancreatic cancer (PC).


METHODS
Genomic DNA of 61 pancreatic cancer patients and 105 healthy controls (HC) were analyzed. UGT1A7 genotyping was determined by PCR-RFLP analysis. Specific PCR and sequencing were used to analyze genetic variants of UGT1A9, ARP, SPINK1 and CFTR genes.


RESULTS
Four different alleles (*1: WT; *2: N129K and R131K; *3: N129K, R131K, and W208R; and *4: W208R) in UGT1A7 and three different alleles (*1: WT; *4: Y242X; and *5: D256N) in UGT1A9 were detected. All UGT1A polymorphisms were observed at similar frequency in PC patients and HC. Seven different alleles in ARP were found in PC patients and HC at similar frequency. The SPINK1 mutations N34S and P55S occurred in five PC patients with a prevalence (4.1%) not significantly different from that observed (2.0%) in HC. The only CFTR DeltaF508 mutation was recognized in three PC patients with a prevalence (4.9%) similar to HC.


CONCLUSIONS
UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.
Piepoli
Ada
A
Research Laboratory Department of Gastroenterology, "Casa Sollievo della Sofferenza" Hospital, IRCCS, San Giovanni Rotondo, Italy. a.piepoli@operapadrepio.it
Gentile
Annamaria
A
Valvano
Maria Rosa
MR
Barana
Daniela
D
Oliani
Cristina
C
Cotugno
Rosa
R
Quitadamo
Michele
M
Andriulli
Angelo
A
Perri
Francesco
F
D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009414:Nerve Growth Factors; D010190:Pancreatic Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D012307:Risk Factors; D012907:Smoking; D014359:Trypsin Inhibitor, Kazal Pancreatic; D000090264:UDP-Glucuronosyltransferase 1A9
C505032:CFTR protein, human; D002352:Carrier Proteins; C099695:MANF protein, human; D009414:Nerve Growth Factors; D011506:Proteins; C486642:SPINK1 protein, human; C000715591:UGT1A9 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014453:Glucuronosyltransferase; D000090264:UDP-Glucuronosyltransferase 1A9; C107611:UDP-glucuronosyltransferase, UGT1A7