RGD Reference Report - Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients. - Rat Genome Database

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Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients.

Authors: Piepoli, A  Gentile, A  Valvano, MR  Barana, D  Oliani, C  Cotugno, R  Quitadamo, M  Andriulli, A  Perri, F 
Citation: Piepoli A, etal., World J Gastroenterol. 2006 Oct 21;12(39):6343-8.
RGD ID: 2317157
Pubmed: PMID:17072959   (View Abstract at PubMed)
PMCID: PMC4088144   (View Article at PubMed Central)

AIM: 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. CONCLUSION: UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pancreatic cancer no_associationIAGP 2317157 RGD 
pancreatic cancer no_associationISOCFTR (Homo sapiens)2317157; 2317157 RGD 
pancreatic cancer no_associationIAGP 2317157; 2317157DNA:polymorphisms: :multiple (human)RGD 
pancreatic cancer no_associationISOMANF (Homo sapiens)2317157; 2317157DNA:polymorphisms: :multiple (human)RGD 
pancreatic cancer no_associationISOUGT1A7 (Homo sapiens)2317157; 2317157DNA:polymorphisms: :multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cftr  (CF transmembrane conductance regulator)
Manf  (mesencephalic astrocyte-derived neurotrophic factor)
Ugt1a7c  (UDP glucuronosyltransferase 1 family, polypeptide A7C)

Genes (Mus musculus)
Cftr  (cystic fibrosis transmembrane conductance regulator)
Manf  (mesencephalic astrocyte-derived neurotrophic factor)
Ugt1a7c  (UDP glucuronosyltransferase 1 family, polypeptide A7C)

Genes (Homo sapiens)
CFTR  (CF transmembrane conductance regulator)
MANF  (mesencephalic astrocyte derived neurotrophic factor)
UGT1A7  (UDP glucuronosyltransferase family 1 member A7)


Additional Information